Blog Archive

Archived posts for 2015

Recordati Rare Diseases who are they and how do they help Acute Porphyrias

Tuesday - December 29, 2015 @ 10:30:23


Recordati Rare Diseases, the groups American subsidiary offers a portfolio of products for the treatment
of a number of rare diseases as from 2013. Also in the U.S.A. the organization works closely with specialists,
healthcare professionals, patients families and patient groups to meet the needs of people affected by these diseases and to spread the scarce knowledge available. Recordatis commitment to making its
products available to patients suffering from rare diseases was recognized by the National Organization for Rare Disorders (NORD) in the U.S.A. with its 2011 Corporate Award. This important award was granted in recognition of the introduction into the United States of Carbaglu, the first specific treatment approved by the FDA (Food and Drug Administration) for NAGS deficiency, a very rare inherited metabolic disease.


The acquisition and diffusion of specific scientific knowledge is fundamental for the identification of a rare disease and is of great importance in the research for new therapies. Recordati is committed to support families suffering from the impact of a rare disease both through the research and development of new treatments as well as through the diffusion of knowledge within the scientific community.

Working in the field of rare diseases is an important responsibility to patients and healthcare professionals and we put this at the heart of our strategy. The Academy was launched to provide unconditional grants for training in rare disease. High-level courses are created under the authority of a scientific committee. The overall aim is to share experience in the management and outcome of rare disorders where individual experience is by its nature limited. The Academy offers specialists the opportunity to enrich their knowledge, develop new ideas and establish scientific relationships. Four live events are held each year bringing together clinicians and scientists from all over the world to discuss innovations and new diagnostic and management strategies. The Academy also provides online e-learning courses which aim to provide physicians, world-wide, with clinically useful and the most up-to-date information concerning current knowledge and recommendations for care. 

"Remember.Research is the key to your cure!"

Healthwell Foundation Offers Financial Assistance To Acute Porphyria Patients

Sunday - December 27, 2015 @ 10:30:07

Healthwell Foundation Offers Financial Assistance To Acute Porphyria Patients

 Krista Zoset, President Healthwell Foundation
Krista Zodet, President
HealthWell Foundation

We are pleased to join forces with the American Porphyria Foundation to increase porphyria awareness and spread the word about resources available through the HealthWell Foundation for people living with porphyria. Since 2006, the HealthWell Foundation has provided copayment and premium assistance to eligible acute porphyria patients. Through our fully-automated grants process, patients are able to determine eligibility and apply online.  Patients also have the option to contact our hotline at 800-675-8416 to speak directly with a HealthWell representative. The HealthWell Foundation is an independent, 501(c)(3) charitable organization that provides financial assistance to insured individuals who struggle with high out-of-pocket medical expenses. You can learn more about the HealthWell Foundation by visiting us at

"Remember..Research is the key to your cure!"

Tracy Yelen ~ Research Experience with AIP

Thursday - December 24, 2015 @ 10:30:11

Tracy Yelen ~ Research Experience

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
"If you're at all interested in what they are doing to me in this Panhematin trial, I am happy to share. During the entire stay, the medical team accessed my port.  They drew all the blood they wanted without all the usual IV sticks, which is nice. Every morning after breakfast we did the infusions, which may or may not be a placebo.  Neither the nurses nor I were allowed to see what was pumping into me.  So I am blindfolded and there are sheets hung in the room to cover the medicine and tinfoil around the lines. It takes only a couple hours to complete.  I snoozed and chatted with the sweet nurse.  Outside of that, the dextrose fluids are flowing in through my port 24/7. Otherwise, it was pretty uneventful.  Why do I tell you this?  Basically, I want to remind you of how important it is to volunteer as a research patient if you ever get the opportunity. There are lots of trials that even perfectly well people can do for various different studies and various different medical reasons."
~Tracy Yelen, AIP

We need Acute Porphyria Research Volunteers for the Panhematin study.  Please call the APF to learn more 1-866-APF-3635

             "Remember.Research is the key to your cure!"

We wish you a Merry Christmas, Happy Holidays and a Happy, Healthy New Year!

Friday - December 18, 2015 @ 10:30:28

We wish you a Merry Christmas, Happy Holidays and a Happy, Healthy New Year!
It has been our pleasure to provide you and your families with the most up to date porphyria information available and to offer support for your needs.  We also have enjoyed meeting so many of you over the past thirty years and have been blessed by the lasting friendships we have cultivated.  We look forward to meeting many more of you and serving you in the future.
Please contact us if we can help in any way 713.266.9617!
Your friends at the American Porphyria Foundation.

"Remember.Research is the key to your cure!"

Who is the Scientific Advisory Board made up of?

Thursday - December 17, 2015 @ 22:50:26

Scientific Advisory Board

 Who is the Scientific Advisory Board made up of?  Please read the profiles of the Doctors.  Please get involved in Research so you can meet An APF expert or a PTF DR.  

Karl E. Anderson, MD, Chairman (profile)
University of Texas Medical Branch
D. Montgomery Bissell, MD (profile)
University of California
Joseph R. Bloomer, MD
University of Alabama
Sylvia S. Bottomley, MD
University of Oklahoma
Robert J. Desnick, PhD, MD (profile)
Mount Sinai School of Medicine
John H. Epstein, MD (profile)
University of California
Richard Galbraith, MD, PhD
University of Vermont
Micheline M. Mathews-Roth, MD (profile)
Harvard University School of Medicine
Claus A. Pierach, MD
University of Minnesota
Neville Pimstone, MD, PhD
University of California
Maureen B. Poh-Fitzpatrick, MD
University of Tennessee
Steven Shedlofsky, MD (profile)
University of Kentucky

Protect the Future
The following doctors and scientists are participants in the APF Protect the Future program to develop the next generation of porphyria experts. They work directly with members of the APF Scientific Advisory Board as part of a rigorous program of study, clinical and laboratory work, research and publishing. Read more about this pioneering project.
Manisha Balwani, MD
Mount Sinai Medical Center
Bradley Freilich, MD
Kansas City, MO
Charles Marques Lourenço, MD
University of São Paulo, Brazil
Tarun Narang, MD
Carolinas Medical Center
Manish Thapar, MD
University of Missouri
Jeffrey Wickliffe, PhD
Tulane University

Below is a list of some of the Porphyrias Research Consortium (PC) publications.  The PC includes Drs.  Karl Anderson, Montgomery Bissell, Joseph Bloomer, Herbert Bonkovsky, Robert Desnick, John Phillips. There are a number of other texts ready for publication.   All PC members are also members of the APF Scientific Advisory Board.  We hope as you read this list of publications, you will appreciate the depth of knowledge of our experts and their dedication to porphyria patients.  At a recent meeting, the experts said,  "Because our retirement is approaching, we must train as many future experts as possible lest our fifty years of expertise is lost."   

RDCRN Porphyrias Consortium Publication List

Peer Reviewed
1.    Gunn GB, Anderson KE, Patel AJ, Gallegos J, Hallberg C, Sood G, Hatch SS, Sanguineti, G: Severe radiation therapy-related soft tissue toxicity in a patient with porphyria cutanea tarda: case report and review of the literature. Head and Neck. 2010; 32:1112-7. PMID: 19536857; PMCID: PMC2891307
2.    Hou W, Tian Q, Zheng J, Bonkovsky HL. Zinc mesoporphyrin induces rapid proteasome-mediated degradation of hepatitis C non-structural 5A protein in human hepatoma cells. Gastroent. 2010; 138:1909-19. PMID: 19909748; PMCID: PMC2860067
3.    Jalil S; Grady JJ, Lee C, Anderson KE, Associations among behavior-related susceptibility factors in porphyria cutanea tarda.  Clin Gastroenterol Hepatol. 2010; 8:297-302. PMID: 19948245; PMCID: PMC2834813
4.    Bishop DF, Clavero S, Mohandas N, Desnick RJ.  Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.  Mol Med. 2011; 17:748-56. PMID: 21365124; PMCID: PMC3146604
5.    Boynton TO, Gerdes S, Craven SH, Neidle EL, Phillips JD, Dailey HA. Discovery of a Gene Involved in a Third Bacterial Protoporphyrinogen Oxidase Activity through Comparative Genomic Analysis and Functional Complementation.  Appl Environ Microbiol. 2011;77:4795-801. PMID: 21642412; PMCID: PMC3147383
6.    Dailey HASepter ANDaugherty LThames DGerdes SStabb EVDunn AKDailey TAPhillips JD. The Escherichia coli Protein YfeX Functions as a Porphyrinogen Oxidase, Not a Heme Dechelatase. MBio. 2011; 8; 2. PMID: 22068980; PMCID: PMC3215433
7.    Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ.  Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.  J Inherit Metab Dis. 2011; 34:225-31. PMID: 21103937; PMCID: PMC3091031
8.    Huang ZChen KXu TZhang JLi YLi WAgarwal AKClark AMPhillips JDPan X. Sampangine inhibits heme biosynthesis in both yeast and human. Eukaryot Cell. 2011; 10:1536-44. PMID: 21908598; PMCID: PMC3209050
9.    Hwang SI, Lee YY, Park JO, Norton HJ, Clemens E, Schrum LW, Bonkovsky HL.  Effects of a single dose of oral iron on hepcidin concentrations in human urine and serum analyzed by a robust LC-MS/MS method.  Clin Chim Acta. 2011; 412: 2241-2247. PMID:  21867695; PMCID: PMC3207492
10.  Lakner, A, Bonkovsky HL, Schrum L.  MiRNAs:  fad or future of liver disease.  World J Gastroent. 2011;17: 2536-42. PMID: 21633658; PMCID: PMC3103811
11.  Li T, Bonkovsky HL, Guo J-T.  Structural analysis of heme proteins:  implications for design and prediction. BMC Struct Biol. 2011; 11:13. PMID: 21371326; PMCID: PMC3059290
12.  Lorenzo FR, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT. Molecular Basis of Two Novel Mutation Found in Type I Methemoglobinemia. Blood Cells Mol Dis. 2011; 46:277-81. PMID: 21349748; PMCID: PMC3075332
13.  Phillips JD, Kushner JP, Bergonia HA, Franklin MR. Uroporphyria in the Cyp1a2-/- mouse.Blood Cells Mol Dis. 2011; 15:249-254. PMID: 21880518; PMCID: PMC3223295 
14.  Tian Q, Li T, Hou W, Zheng J, Schrum LW, Bonkovsky HL.  Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells.  J Biol Chem. 2011; 286:26424-30. PMID: 21659532; PMCID: PMC3143606
15.  To-Figueras J, Phillips JD, Gonzalez-López JM, Badenas C, Madrigal I, González-Romarís EM, Ramos C, Aguirre JM, Herrero C. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. Br J Dermatol. 2011; 165:499-505. PMID: 21668429
16.  Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips J, Khalimonchuk O, Paw BH, Ward DM, Kaplan J. Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria. Blood. 2011; 117:5494-502. PMID: 21310927; PMCID: PMC3109720
17.  Wang Y, Langer NB, Shaw GC, Yang G, Li L, Kaplan J, Paw BH, and Bloomer JR:  Abnormal Mitoferrin-1 expression in patients with erythropoietic protoporphyria.  Exp Hematology. 2011; 39:784-794. PMID: 21627978; PMCID: PMC3143264
18.  Wickliffe JK, Abdel-Rahman SZ, Lee C, Kormos-Hallberg C, Sood G, Grady JJ, Desnick RJ, Anderson KE, CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Mol Med. 2011; 17:241-247. PMID: 20957336; PMCID: PMC3060985
19.  Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C.  A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. J Chromatogr B Analyt Technol Biomed Life Sci. 2011; 879:2389-96. PMID: 21783436; PMCID: PMC3269068
20.  Caballes FR, Hossein S, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int. 2012; 32:880-93. PMID: 22510500; PMCID: PMC3418709
21.  Bonkovsky HL. Risk factors for porphyria cutanea tardathe iron/HFE connection. Liver Int. 2012; 33:162. PMID: 23121614
22.  Balwani M. Desnick R.J. The Porphyrias: Advances in Diagnosis and Treatment. Hematology Am Soc Hematol Educ Program. 2012; 2012:19-27. PMID: 23233556
23.  Balwani M. Desnick R.J. The Porphyrias: Advances in Diagnosis and Treatment. Blood. 2012; 120:4496-504. PMID: 22791288; PMCID: PMC3512229
24.  Singal AK, Kormos-Hallberg C, Lee C, Sadagoparamanujam VM, Grady JJ, Freeman DH, Anderson KE.  Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2012; 10:1402-9. PMID: 22985607; PMCID: PMC3501544
25.  Singal AK, Gou E, Albuerne M, Hallberg CK, Anderson KE. Relapse of PCT after achieving remission with phlebotomy or low dose hydroxychloroquine. Hepatology 2013; 58:299A
26.  Bonkovsky HL, Hou W, Steuerwald N, Tian Q, Parsons J, Hamilton A, Hwang S, Schrum L.  Heme status affects human hepatic messenger RNA and microRNA expression.  World J Gastroenterology 2013; 19: 1593-1601.  PMID 23538684; PMCID: PMC3602476
27.  Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ. Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria. Mol Med. 2013; 19:26-35. PMID: 23364466; PMCID: PMC3646094
28.  Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase gain-of-function mutations causing X-Linked Protoporphyria. Mol Med. 2013; 19:18-25. PMID: 23348515; PMCID: PMC3592931
29.  Larion S, Caballes FR, Hwang S-I, Lee J-G, Rossman WE, Parsons J, Steuerwald N, Li T, Maddukuri V, Groseclose G, Finkielstein CV, Bonkovsky HL. Circadian rhythms in acute intermittent porphyriaa pilot study. Eur J Clin Invest. 2013; 43:727-39.  PMID: 23650938; PMCID PMC3687345
30.  Clavero, S., Ahuja, Y., Bishop, D.F., Giger, U., Kwait, B., Haskins, M.E., and Desnick, R.J.: Feline Porphyria: Two novel mutations causing acute intermittent porphyria. Molecular studies faciltate accurate diagnosis of erythrodontia. Vet. Med. 2013 Epub ahead of print PMID: 24239138 PMCID: PMC3963809
31.  Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Liver transplantation in the management of porphyria. Hepatology. 2014. 60: 1082-89 PMID: 24700519
32.  Yasuda M, Gan L, Chen B, Kadirvel S, Yu C, Phillips JD, New MI, Liebow A, Fitzgerald K, Querbes W, Desnick RJ. RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. PNAS. 2014 Epub ahead of print. PMID: 24821812
33.  Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ. Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium. Am J Med. 2014. Epub ahead of print.PMID: 25016127
34.  Bissell DM, Lai JC, Meister RK, Blanc PD. Role of Delta-aminolevulinic Acid in the Symptoms of Acute Porphyria. Am J Med. 2014 Nov 8. Epub ahead of print PMID: 25446301
35.  Besur S, Hou W, Schmeltzer P, Bonkovsky HL.  Clinically important features of porphyrin and heme metabolism and the porphyrias.  Metabolites, 2014; 4:977-1006. PMID: 25372274
36.  Brancaleoni VBalwani MGranata FGraziadei GMissineo PFiorentino VFustinoni S,Cappellini MDNaik HDesnick RJPierro ED. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked Protoporphyria. Clin Genet. 2015. Epub ahead of print. PMID: 25615817

Chapters in Medical Textbooks
37.  Phillips, J.D., Kushner, J.P.  The porphyrias. In: Hematology of Infancy and Childhood, Saunders, 2008.
38.  Sood G, Anderson KE: Porphyrias. in Crowther MA, Ginsberg J, Schunemann H, Meyer RM, Lottenberg R (eds): Evidence-Based Hematology, Hoboken, Wiley, 2008. pp 229-237.
39.  Sood, G, Anderson KE: Porphyria Cutanea Tarda.  In: Best Practice, BMJ Publishing Group, 2008. 
40.  Anderson KE, Sood, G: Acute intermittent porphyria.  In: Best Practice, BMJ Publishing Group, 2008. 
41.  Phillips, J.D., Anderson, K.  Porphyria. In: A practical handbook to Williams Hematology, McGraw-Hill 2010, Chapter 57, pp 839-863.
42.  Phillips JD, Anderson KE.  The porphyrias (Chapter 57).  In: Kaushansky K, Lichtman MA, Beutler E, Kipps TJ, Seligson U, Prchal JT, eds.  Williams Hematology, 8th edition.  New York: McGraw-Hill 2010: 839-863. 
43.  Anderson KE, Lee C, Balwani M, Desnick RJ.  The porphyrias (Chapter 85).  In: Kliegman RM, Stanton BMD, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics, 19th edition. Philadelphia: Elsevier, 2011, pp 517e1-e17. 
44.  Anderson KE. The porphyrias (Chapter 217). In: L. Goldman and A.I. Schafer, eds. Goldmans Cecil Medicine, 24th edition, Philadelphia, Elsevier Saunders 2012:1363-71. 
45.  Lourenco, CM, Lee, C, Anderson KE. Disorders of heme biosynthesis (Chapter 37). In: Saudubray J-M, Van den Berghe G, Walter, JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th edition. Berlin:Springer-Verlag; 2012: 519-532. 
46.  Phillips, J.D.  Side chain modification during heme biosynthesis. In: Handbook of Porphyrin Sciences, Academic Press 2012, Vol. 19, Chapter 91, pp 283-337. 
47.  Bonkovsky HL, Hou W, Guo J-T, Narang T, Thapar M. Porphyrin and heme metabolism and the porphyrias. In Wolkoff A, Lu S, and Omary B (Eds). Comprehensive Physiology, 3:1-37, 2013. PMID: 23720291
48.  Gou E, Anderson KE. The Porphyrias.  In: Hamblin MR, Huang YY, eds. Handbook of Photomedicine. Philadelphia, CRC Press, Taylor and Francis, 2014: 123-132.
49.  Besur S, Bonkovsky HL. The porphyrias. Encyclopedia of Life Sciences, John Wiley and Co, London, UK, 2014.
50.  Bissell DM. The porphyrias. In Rosenberg RN, Pascual JM, eds. Rosenbergs Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th Edition. Academic Press, Chapter 66, pp 725-43. 2014.
51.  Desnick RJ, Balwani MB, Anderson KE. Heme Biosynthesis and the Porphyrias. In: Liver Diseases in Children, Fourth Ed., Suchy FJ, Sokol RJ, Balistreri WF, eds., Cambridge University Press, 2014:509-525
52.  Anderson KE. Clinical and Laboratory Diagnosis of the Porphyrias, In: Ferreira GC, Kadish KM, Smith K, Guilard R eds. Handbook of Porphyrin Science. Hackensack, World Scientific Publishing Co., 2013: 370-415
53.  Anderson KE. Porphyrias acute manifestations, In: Loriaux L, ed. Endocrine Emergencies. New York, Springer/Humana Press, Contemporary Endocrinology Vol. 74, 2014: 241-261.
54.  Singal AK, Phillips J. Porphyria cutanea tarda and related disorders. In: The Porphyrins Handbook. Eds. Kadish K, Smith K, Guilard R, Ferrira G, Elsevier Science, 2014; 29: 219-262

Online resources
55.  Anderson KE: Porphyria an Overview.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010
56.  Bloomer JR.  ALAD Porphyria.  National Organization for Rare Disorders (NORD) Database, Danbury, CT, 2010.
57.  Singal, AK, Anderson KE: Porphyria cutanea tarda and hepatoerythropoietic porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010
58.  Singal, AK, Anderson KE: Variegate Porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010
59.  Sood, G, Anderson KE: Etiology and pathogenesis of acute intermittent porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010. 
60.  Sood, G, Anderson KE: Clinical manifestations and diagnosis of acute intermittent porphyria. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010. 
61.  Sood, G, Anderson KE: Management of acute intermittent porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2010. 
62.  Bloomer JR: Managing acute porphyrias: practice considerations in inpatient and outpatient settings. Medscape Education Gastroenterology, 2010.
63.  Mittal, S, Anderson KE: Erythropoietic protoporphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2011.
64.  Balwani M, Bloomer J, Desnick RJ. Porphyrias Consortium of the RDCRN. Erythropoietic Protoporphyria, Autosomal Recessive. Gene Reviews, 2012. Updated October 2014 PMID 23016163
65.  Bissell M, Wang B, Cimino T, Lai J. Porphyrias Consortium of the RDCRN. Hereditary Coproporphyria. Gene Reviews, 2012. PMID 23236641
66.  Anderson KE: Congenital erythropoietic porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2013
67.  Anderson KE: ALA dehydratase porphyria.  In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2013. 
68.  Anderson KE: Porphyria, variegate.  National Organization for Rare Disorders (NORD) Rare Disease Database, Danbury, CT, 2010, updated 2013.
69.  Balwani M, Bloomer J, Desnick RJ. Porphyrias Consortium of the RDCRN. X-Linked Protoporphyria. Gene Reviews, 2013. PMID 23409301
70.  Liu L, Phillips J, Bonkovsky HL. Porphyrias Consortium of the RDCRN. Porphyria Cutanea Tarda, Type II. Gene Reviews, 2013. PMID 23741761
71.  Liu L, Phillips J, Bonkovsky HL. Porphyrias Consortium of the RDCRN. Hepatoerythropoietic Porphyria. Gene Reviews, 2013. PMID 24175354
72.  Singal AK, Anderson KE: Porphyrias Consortium of the RDCRN. Variegate Porphyria. Gene Reviews, 2013. PMID 23409300
73.  Erwin A, Balwani M, Desnick RJ: Porphyrias Consortium of the RDCRN. Congenital Erythropoietic Porphyria. Gene Reviews, 2013. PMID 24027798

Presented Abstracts
74.  Bishop DF, Tchaikovskii V, Nazarenko I, Balwani M, Doheny D, Desnick RJ.  Expression and characterization of the ALAS2 carboxy-terminal gain-of-function mutations causing X-linked Protoporphyria. Presented at the 12th International Congress of Human Genetics/The American Society of Human Genetics 61st Annual Meeting, Montreal, Canada, October 14, 2011.
75.  Doheny D., Nazarenko I., Balwani M., Liu L., Naik H., Anderson K., Bissell D.M., Bloomer J., Bonkovsky H., Kushner J., Phillips J., Bishop D., Desnick R.J.  Erythropoietic Protoporphyrias:  Frequency of Mutations in the Ferrochelatase Gene Causing Autosomal Recessive Erythropoietic Protoporphyria and Mutations in the 5-Aminolevulinate Synthase 2 Gene Causing X-Linked Protoporphyria. Presented at the 12th International Congress of Human Genetics/The American Society of Human Genetics 61st Annual Meeting, Montreal, Canada, October 13, 2011.
76.  Hou W, Tian Q, Lu QL, Schrum WL, Bonkovsky HL. Zinc protoporphyrin, a novel endogenous HCV NS3-4A protease inhibitor, displays anti-viral activity.  Presented at the 62ndAnnual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.
77.  Tian Q, Hou W, Steuerwald NM, Schrum WL, Bonkovsky HL. Heme markedly up-regulates RNA-binding motif protein 24 gene expression in human hepatocytes.  Presented at the 62ndAnnual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.
78.  Tian Q, Hou W, Zheng J, Schrum WL, Bonkovsky HL. LONP1-dependent breakdown of mitochondrial 5-aminolevulinicacid synthase protein by heme in human liver cells.  Presented at the 62nd Annual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.
79.  Hwang S-I, Lee Y-Y, Park J-O, Norton HJ, Clemens E, Schrum LW, Bonkovsky HL.  The measurement of hepcidin from human urine and serum to study effects of a single dose of oral iron by an optimized LC-MS/MS method. Presented at the 62nd Annual Meeting of AASLD, San Francisco, CA, November 4-8, 2011.
80.  Singh, A, Pierson, K, Wilkinson, G, Anderson, K. Porphyrias: Prevalence and Frequency of Testing in a National Health Care Database. Presented at the 63rd Annual Meeting of AASLD, Boston, MA, November 9-13, 2012.
81.  Ludtke A, Yasuda M, Lin G, Clavero S, Nazarenko I, Jungmin K, Doheny D, Balwani M, Desnick RJ. Acute Intermittent Porphyria: Identification of 23 Novel Hydroxymethylbilane Synthase Mutations and Functional Characterization of Six Novel Missense Mutations. Presented at the ACMG Annual Clinical Genetics Meeting, Phoenix, AZ, March 19-23, 2013.
82.  Balwani M, Bishop DF, Nazarenko I, Yasuda M, Doheny D, Dailey HA, Liu L, Anderson KE, Bissell DM, Bloomer JR, Bonkovsky HL, Phillips JD, Desnick RJ. Mutation analysis of 155 North American Patients with Erythropoietic Protoporphyria reveals novel Ferrochelatase Mutations and a high prevalence of X-Linked Protoporphyria due to previous and novel 5-Aminolevulinate Synthase 2 mutations.  Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
83.  Balwani M, Naik H, Peter I, Anderson KE, Bissell DM, Bloomer JR, Bonkovsky HL, Phillips JD, Desnick RJ. Erythropoietic Protoporphyria and X-Linked Protoporphyria in the United States: Results from the Longitudinal Study of the NIH/RDCRN Porphyrias Consortium. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
84.  Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
85.  Gou EW, Singh A, Pierson KS, Wilkinson GS, Anderson KE. Frequency of Porphyria Testing in a National Health Care Database. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
86.  Larion S, Caballes FR, Hwang S-I, Lee J-G, Rossman WE, Parsons J, Steuerwald N, Li T, Maddukuri V, Yazici C, Groseclose G, Finkielstein CV, Bonkovsky HL.  Circadian rhythms in acute intermittent porphyriaa pilot study. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
87.  Mittal S, Yasuda M, Desnick RJ, Anderson KE. Metabolic Analysis in Transgenic Mouse Models of Acute Intermittent Porphyria (AIP). Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
88.  Naik H, Balwani M, Doheny D, Liu L, Desnick RJ. Experience with a Pilot Skype Internet Support Group for Symptomatic Patients with Acute Intermittent Porphyria. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
89.  Ludtke A, Yasuda M, Gan L, Clavero-Villarrub S, Nazarenko I, Kim J, Doheny D, Balwani M, Desnick RJ. Acute Intermittent Porphyria: Identification of 19 Novel Hydroxymethylbilane Synthase Mutations and Functional Characterization of Four Novel Missense Mutations. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
90.  Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Desnick RJ, Phillips JD, Naik H, Gandolfo L, Light C, Bonkovsky HL.  Acute intermittent porphyria [AIP] in the United States:  features of the first 82 cases enrolled in the longitudinal study of the porphyria consortium [PC].  Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
91.  Phillips JD, Warby C, Bergonia H, Marcero J, Parker C, Franklin M. Porphyria studies in Cyp1A2-/- and wild type mice suggest that heme regulation of ALA-synthase transcription and mitochondrial membrane translocation can be separated based on heme supply-and-demand. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
92.  Singal AK, Jampana SC, Kormos-Hallberg C, Anderson KE. Low-dose hydroxychloroquine to treat or prevent relapse of porphyria cutanea tarda during hepatitis C treatment. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
93.  Singal AK, Gou EW, Albuerne M, Kormos-Hallberg C, Anderson KE. Relapse of porphyria cutanea tarda after achieving remission with phlebotomy or low dose hydroxychloroquine. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
94.  Yazici C, Maddukuri VC, Anderson KE, Bissell DM, Bloomer JR, Desnick RJ, Phillips JD, Naik H, Gandolfo L, Light C, Bonkovsky HL.  Hereditary coproporphyria [HCP] and variegate porphyria [VP] in the United States:  Initial results from the longitudinal study of the porphyria consortium [PC].  Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
95.  Wang B, Bissell DM, Lai J, Cimino T, Porphyrias Consortium. A Combined Clinical Index for the Diagnosis of Acute Porphyria. Presented at the Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias, Lucerne, Switzerland, May 16-18, 2013.
96.  Ludtke A, Yasuda M, Balwani M, Liu L, Arvelakis A, Naik H, Clavero S, Bishop D, Phillips J, Ramanujam S, Anderson K, Yu C, Florman SS, Desnick RJ. First US Orthotopic Liver Transplant for Intractable Acute Intermittent Porphyria. Presented at The American Society of Human Genetics 63rd Annual Meeting, Boston, MA, October 22-26, 2013.
97.  Gou E , Weng C, Phillips JD, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, Naik H, Anderson KE. Variability in erythrocyte and plasma porphyrin levels in erythropoietic protoporphyria and x-linked protoporphyria. Presented at the American College of Gastroenterology Annual Meeting, Philadelphia, PA, October 20-22, 2014.


EPP Patient Letter Writing Campaign Update

Wednesday - December 16, 2015 @ 10:30:00

EPP Patient Letter Writing Campaign Update

Dear EPP Family,
As you all know, we are collecting EPP patient experiences in letter-form so that we can take them collectively to the FDA to ask them for the accelerated approval of the drug Afamelanotide. To date we have collected 214 patient letters with a few more on the way.
Please take a minute to write a letter today. You can scan or/and send it to us by replying to this email. You can also fax it to us at 713.840.9552. Today is the very last chance to make a difference!
Your contributions to previous letter campaigns worked.  They convinced the FDA to approve Phase III of the drug trials in the USA, and our American letters helped convince the European Medicines Agency to grant approval of the drug in the European Union.  Now it is our turn to seek approval for Afamelanotide by the FDA in the USA!
If you have any questions, please reach out to the APF 713.266.9617.  Let's make this happen.  Patient advocacy works. THANK YOU FOR PARTICIPATING!

"Remember.Research is the key to your cure!"

Patient Education Meeting in Orlando Florida a huge success

Monday - December 14, 2015 @ 10:30:00

Patient Education Meeting in Orlando Florida a huge success

The Patient Educational Meeting that we held last weekend in Orlando Florida in conjunction with the ASH convention, was a huge success. We had a great turn out there was standing room only! A special thank you to Drs Phillips, Parker and Silver, and the Recordati Company for coming to the meeting. The questions asked by the members were excellent, showing that the more you ask and the more you learn then the better equipped you are to care for yourself! We would like to thank the doctors who presented at the meeting as well as our long-term APF member Amy Chapman for helping us to organize it. Also, special thanks to everyone who attend with their families and friends.
Watch the APF E-news for the announcements about the upcoming meetings. Make sure your membership is up to date, so you receive all news.

Please get involved and take action now and sign up for research so that we can learn more and ultimately find a cure!  

Researchâ?¦.is the key to your cure!



An update of clinical management of acute intermittent porphyria

Friday - December 11, 2015 @ 10:30:01

An update of clinical management of acute intermittent porphyria


Acute intermittent porphyria (AIP) is a rare inherited metabolic disease due to a deficiency of the hydroxymethylbilane synthase (HMBS) in heme biosynthesis. AIP manifests after the puberty with occasional neuropsychiatric crises associated with accumulation of porphyrin precursors such as δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) which are released from the liver into the circulation, (Figure 1). The diagnosis is often delayed, because clinical manifestations are unspecific and commonly mimic acute encephalopathy or abdominal crisis of other origin.
Figure 1
Precipitating factors and pathogenesis of an acute attack in AIP.
AIP is the most common type of acute porphyrias in most of the countries worldwide. The major clinical manifestation of AIP is an acute attack, which is clinically indistinguishable from those caused by other acute porphyrias: variegate porphyria (VP) and hereditary coproporphyria (HCP). The management of an acute attack in each disease is similar, and thus, more specific classification of an acute porphyria can be done in remission. Photosensitivity and skin fragility found in patients with cutaneous porphyrias, VP and HCP, occur independently of acute attacks and do not occur in AIP.,
When acute porphyria is suspected, biochemical plasma or urinalyses of porphyrin precursors are mandatory to confirm the diagnosis of an acute porphyric attack. More than five-fold elevation of urinary PBG excretion together with typical symptoms of an acute attack is sufficient to start a treatment, but in each case other causes of abdominal crisis must be excluded before a specific treatment of an acute attack is administered. Plasma porphyrin spectrum is a valuable tool to confirm the diagnosis in the early phase and helps to identify different subtypes of acute porphyrias during an acute attack. In AIP emission peak is only transient, and if taken late, may be negative leading to misdiagnosis. AIP and HCP cannot be distinguished by plasma analysis. Mutation screening can be done at the quiescent phase of the disease (Table 1).
Table 1
The laboratory investigations to confirm AIP and other acute porphyrias
Currently, the prognosis of patients with AIP is good even in severe attacks,, but physicians should be aware of a potentially fatal outcome of the disease. During remission the majority of the patients experience no clinical symptoms. Hypertension, chronic kidney insufficiency, chronic pain syndromes, and hepatocellular carcinoma (HCC) may be long-term complications of AIP.,,
The management of patients with AIP include following strategies:
  1. During an acute attack: 1) treatment with heme preparations, if an acute attack is severe or moderate; 2) symptomatic treatment of autonomic dysfunctions, sensorimotor neuropathy and encephalopathy; 3) exclusion of precipitating factors; and 4) adequate nutrition and fluid therapy.
  2. During remission: 1) exclusion of precipitating factors (education of patients and family doctors), 2) information about on-line drug lists, and 3) mutation screening for family members and education about precipitating factors in mutation-positive family members which can diminish mortality and prevent subsequent attacks among them.
  3. Management of patients with recurrent attacks: 1) evaluation of the lifestyle, 2) evaluation of hormonal therapy in women, 3) prophylactic heme therapy, and 4) liver transplantation in AIP patients with severe recurrent attacks.
  4. Follow-up of the AIP patients for long-term complications: chronic hypertension, chronic kidney insufficiency, chronic pain syndrome, and HCC.

Clinical manifestations and pathogenesis of an acute attack

The majority of acute attacks manifest as a combination of abdominal pain, mild mental symptoms, and autonomic dysfunction., Both acute peripheral neuropathy and severe encephalopathy may develop, if an acute attack proceeds,, (Figure 2). It is usually iatrogenic, mainly due to administration of porphyrinogenic drugs when the diagnosis of acute porphyria is delayed.,, Both endogenous and exogenous factors, such as certain medications, alcohol, infections, low caloric intake, or changes in sex hormone balance during the menstrual cycle or pregnancy, can provoke clinical manifestations in AIP, (Figures 1 and and2).2). All these factors induce heme synthesis either directly or indirectly via activation of ALA synthase in the liver resulting in accumulation of porphyrins and their precursors in the tissues and circulation.
Figure 2
Staging of an acute attack in connection with precipitating factors and recommendations of heme therapy.
Excess of ALA is the most potential candidate to cause neuronal damage and could be responsible for autonomic and peripheral neuropathy and encephalopathy via multiple mechanisms. Results from both the experimental and clinical data support the direct neurotoxicity of ALA, but also modification of γ-aminobutyric acid (GABA)-ergic system due to the structural similarity of ALA and GABA/glutamate, as well as formation of free radicals and reactive oxygen species from ALA may play a role in the pathogenesis of an acute attack.
Heme preparations, in the current treatment, lead to a rapid decrease of synthesis of porphyrin precursors via negative feedback (Figure 1). Reduced transcription of ALA synthase in the liver achieved by heme results in cessation of an acute attack within few days. Dose-dependent administration of glucose has also been shown to downregulate ALA synthase in experimental conditions via peroxisome-proliferator-activated receptor γ coactivator 1α (PGC-1α), a protein which directly induces transcription of ALA synthase 1.Subsequently, glucose infusions have been used to prevent fasting and may be sufficient in mild attacks. Despite the fact that recombinant human-HMBS-enzyme (rh-HMBS) therapy decreased the plasma level of PBG rapidly, it had no effect on the ALA level or the patients acute symptoms. In contrast, liver transplantation immediately corrects porphyrin metabolism to normal demonstrating the dominant role of liver as a source of ALA.
The exact mechanism of cyclic attacks in women is unknown. Despite the level of sex hormones is at the highest during the second and third trimester, acute attacks are rare during pregnancy.,,, Although, especially, progesterone is known to be a potent inducer of ALA synthase, the direct role of sex hormones as sole precipitating factors is unlikely. Moreover, cyclical attacks occur mainly in premenstruum when the levels of estrogen and progesterone fluctuate the most, and usually are resolved during early menstruation., Individual variation in the progesterone metabolism may play a role in clinical manifestations of AIP. Cytochrome-P450 activities in the liver also vary individually and can result in an abnormal level or ratio of sex hormones affecting the feedback mechanism to hypothalamus. Several neurotransmitters control the menstrual cycle through the regulation of pulsatile release of gonadotropin-releasing hormone (GnRH) and other clock mechanisms in the hypothalamus. This interaction may activate abnormal liver metabolism, and consequently precipitate acute attacks by the central mechanism making AIP a central nervous system disorder in addition to a liver disease.

Diagnosis of AIP

The clinical criteria of an acute attack include the paroxysmal nature of the symptoms with abdominal or back pain associated with one or more signs of autonomic dysfunction, hyponatremia, muscle weakness, or mental symptoms (Table 2).
Table 2
The key symptoms indicating acute porphyria
The biochemical criteria of an acute attack include more than a fivefold increase of urinary PBG excretion (Table 1), which can be detected by a simple Watson-Schwartz or Hoesch qualitative test. The results should be confirmed by a quantitative measurement of urinary PBG, since false positive results in these screening tests are possible, especially, if perchloric acid instead of amyl alcohol is used as an extract.If the urine samples are not sheltered from the light, urinalysis may become false negative.
Urinary excretion of PBG is elevated in 88% of the patients with AIP in remission. During an acute attack PBG excretion increases commonly at least two- to fourfold from the values found in remission. Urinary ALA is always increased during an acute attack but remains elevated only in 61% of AIP cases in remission. In AIP, urinary excretion of uroporphyrins is increased, including both I and III isomers, and exceeds that of coproporphyrins I and III.
Of note, abnormal metabolism of porphyrin and their precursors may also be detected in patients with hepatopathy or heavy metal intoxications., The clinical manifestations may even resemble AIP, but biochemically only a mild to moderate coproporphyrinuria is present, and porphyrin precursors are commonly only transiently elevated., If urinary ALA level exceeds that of PBG significantly, lead intoxication should be excluded.
In AIP, plasma porphyrin emission spectrum test with excitation wave length of 405 nm shows a peak at 615620 nm during an acute attack similar to HCP but it can be less frequently found in remission.,Emission peak is due to porphyrins ability to absorb light at wave length around 400 nm and their emission as red fluorescence, at around 600 nm. Plasma emission spectrum test is used mainly to exclude symptomatic V P, since it has a unique 624627 nm spectrum due to protein-associated plasma porphyrins.,, Of note, emission peak is commonly negative at the asymptomatic phase of VP.
Around 20% of the patients with AIP have moderately increased excretion of fecal protoporphyrin, which is less prominent than that of VP patients., Since fecal coproporphyrin level is usually normal in AIP,more than tenfold excretion of coproporphyrin (isoform III:I >2) in feces together with protoporphyrin suggests HCP.
In 84%95% of patients with AIP,, erythrocyte HMBS (Erc-HMBS) activity has been lower than normal. In the variant form of AIP (5%16% of all patients),, Erc-HMBS activity was normal due to an alternative splicing of the HMBS gene in erythroid cells. HMBS activity should be assayed in remission, since erythropoiesis may be enhanced during an attack as well as in hypochromic or hemolytic anemias and hepatopathy., In contrast, it can be decreased in non-porphyric individuals with sideropenia.
DNA analysis is the most reliable method to confirm AIP in the patients and their symptom-free relatives., The direct sequencing of the HMBS gene is used to identify a mutation in the proband and the asymptomatic gene carriers among the family members. The sensitivity of the mutation analysis is 90%100%.,, To date, 391 mutations have been reported in the HMBS gene, and therefore DNA testing in an index case of a family is perhaps more laborious and time consuming, but afterward mutation analysis may easily reveal several family members at risk.

Treatment of an acute attack

Current treatment options include heme preparations during an acute attack, which may be life-saving, especially if encephalopathy or polyneuropathy develop. The treatment should be started immediately during a severe or moderate acute attack after the demonstration of typical symptoms of acute porphyria and more than fivefold elevation of urine PBG shown by qualitative tests. Other causes of abdominal crises and neuropsychiatric symptoms often demanding other specific and rapid interventions should always be excluded.
Only around 30%50% of the patients with a mutation in the HMBS gene have mild or moderate clinical symptoms of AIP during their life span.,, Less commonly, around 3%5% of the patients with AIP, have recurrent severe attacks, and no time for neuronal recovery. These patients are at a high risk for chronic pain syndrome. The onset and clinical outcome of an attack is commonly influenced by several exogenous factors simultaneously, and endogenous factors, such as the residual activity of a mutated protein, individual differences in other metabolic pathways in the liver and in neuronal protection capacity, may modify the clinical outcome.,


Heme preparations have been used for acute attacks for more than three decades without tolerance.,,,Hemin is isolated and purified from human red cell concentrates. In Europe, Asia, and South Africa, hemin is commercially available as heme arginate (Normosang, Orphan Europe SARL, Puteaux, France) and in Northern America as lyophilized hematin (Panhematin, Ovation Pharmaceuticals Inc., Deerfield, IL, USA).
In an open series of 22 patients, the patients treated with heme arginate recovered more rapidly in comparison with those treated with glucose infusions in the earlier series. Safety and efficiency of lyophilized hematin has also been demonstrated in six open-labeled studies involving over 200 AIP patients. The only study using a placebo-controlled series found insignificant benefit of heme arginate for the analgesic requirement, pain score, and duration of the hospital stay. The validity of the trial has been questioned due to small number of patients (eleven patients treated with heme and ten with a placebo), a high proportion of the patients with peripheral neuropathy in this series (43%), delayed administration of preparation (>2 days after admission), and difficulties in arranging a placebo, which resembles heme arginate.
Heme arginate and lyophilized hematin are usually infused daily (34 mg/kg) into a large peripheral vein or venous access port for 34 consequent days, but a repetitive course may be required if porphyric symptoms are still progressing, (Table 3). Concentrated solution of heme arginate is mixed with 100 mL physiological saline, and lyophilized hematin is reconstituted with sterile water before infusion.,,Lyophilized hematin should be used immediately after reconstitution. Heme arginate should also be used soon after dilution, since it becomes unstable and may aggregate. In both cases, addition of human serum albumin may be beneficial in order to diminish the risk of phlebitis at the site of infusion. After infusion, the vein should be washed with saline for 1015 minutes. For the long-term use of heme, a central access catheter (tunneled catheter or portacat) may be useful. Low molecular weight heparin can be used subcutaneously to prevent or treat thrombophlebitis.
Table 3
Clinical manifestations and treatment of an acute attack
The treatment with heme preparations should be started without delay, but even in the late stage of progressing motor neuropathy, it is efficient. If a patients neurological condition has stabilized (plateau phase, Figure 2), an additional treatment with heme is rarely necessary but other causes such as infections may deteriorate the patients clinical condition and should be treated properly.
The reported side effects include mild coagulopathy, thrombophlebitis, and anaphylactic shock in one case.

High carbohydrate loading and supportive treatment

The treatment of acute attacks with high carbohydrate diet or infusions (300500 g/day) has been in use in order to downregulate the activity of ALA synthase and prevent fasting. High dose of glucose should be infused continuously 24 hours per day with an automatic syringe, and blood sugar level should be monitored regularly to avoid hyper- or hypoglycemia causing additional neurological complications. If a patient is able to eat, carbohydrate rich meals may similarly have a beneficial effect.
Currently, the use of glucose is limited only to mild attacks (ie, mild pain, no paresis, seizures, or hyponatremia) according to the guidelines for the treatment of an acute attack in the USA and South Africa, or if heme arginate or hematin are not available locally, (Table 3). In mild cases, the dose of glucose can be lower than discussed earlier. If glucose infusions do not result in clinical remission within a day or two, or if an acute attack is severe at the onset, heme preparations should be used. Mild or clearly resolving attacks with minor pain or anxiety may be treated symptomatically.
Low to moderate dose of glucose and saline infusions should be used as supportive treatment to prevent dehydration and during fasting if the patient is unable to drink. The amount of daily fluids may vary from restricted fluid intake in a case of inappropriate antidiuretic hormone secretion to rapid restoration of intravascular volume and correction of electrolyte disturbances in rhabdomyolysis-induced renal failure.Thus, fluid restoration must be tailored individually and careful monitoring of water and electrolyte balance, including sodium, potassium, and magnesium, and renal function should be done (Table 4). Mild to severe hyponatremia is a rather common phenomenon (25%60%) during an acute attack,,, and should be corrected slowly (<12 mmol/L/24 h), because of potential pontine myelinolysis, a condition also described in a patient with AIP.
Table 4
Signs, symptoms, and metabolites followed during an acute attack
Rhabdomyolysis during an acute attack is often neglected, but can be easily diagnosed by measurement of plasma myoglobin or creatinine kinase level and should be treated according to the guidelines. Acute kidney insufficiency is a rare but a severe complication of an acute attack, and may proceed to hemodialysis.,,

Elimination of precipitating factors

All potentially precipitating factors such as drugs, smoking, and alcohol should be eliminated during an acute attack. Infections should be treated promptly and caloric intake of a patient should be sufficient to avoid fasting.,, Administration of porphyrinogenic drugs commonly results in proceeding of an acute attack to neuropathy or encephalopathy (Figure 2). Several lists of potentially safe and unsafe drugs are available on the Internet.
Some drugs, such as barbiturates and sulfonamides, are strictly forbidden since their use has been associated with several severe attacks. Most of the drugs, however, are classified as potentially porphyrinogenic, since clinical data about their safety in acute porphyria is lacking. The majority of the patients, especially asymptomatic, tolerate many drugs well; thus, total avoidance of drugs for the safety reasons leads to inappropriate treatment of patients other diseases. Antibiotics excluding sulfonamides, drugs for cardiovascular diseases, and pain killers are usually well tolerated in addition to preparations used in oncology. The follow-up of urinary excretion of porphyrin precursors may elucidate the effect of a drug on the heme biosynthesis but increased excretion of porphyrin metabolites without clinical symptoms should not solely determine its use. In each case the potential risk and advantage of a drug should be evaluated by a clinician.

Symptomatic therapy

Symptomatic therapy for pain, hypertension, tachycardia, nausea, and vomiting is commonly required (Table 3)., Abdominal pain is usually intensive (visual analog scale, VAS >7 cm, scale from 0 to 10 cm) and opiates are needed. Morphine, pethidine, oxycodone, tramadol, and fentanyl have been used without complication. Paracetamol and anti-inflammatory drugs can be used in mild cases.
Beta blockers are commonly used for tachycardia and to prevent arrhythmia. If a hypertensive crisis develops, it can be treated with beta blockers or clonidine or other drugs recommended by the current guidelines. Nausea and vomiting can be controlled by olanzapine, lorazepam, or prochlorperazine.,Domperidone has been used during an acute attack, but interactions with opiates and other drugs increasing the risk for arrhythmias may prevent its use. Metoclopramide has been associated with neuropathy and encephalopathy during a few acute attacks, but some patients have used it without complications.Urinary retention is quite common and can be treated with catheterization. Blood pressure, heart rate, pain score by visual analog scale, and severity of the muscle weakness should be evaluated daily at the bed side. Bulbar paresis, proceeding muscle weakness, and arrhythmia are signs of progression of an acute attack and the patient should be transferred to the intensive care unit. Respiratory insufficiency as a sign of motor neuropathy increases risk of pneumonia and may require early mechanical ventilation. Patients with paresis due to neuropathy or encephalopathy require rehabilitation therapy even in the early phase.
Epileptic seizures, which are usually generalized, can be treated with intravenous diazepam, gabapentin, levetiracetam, or propofol if status epilepticus develops.,, Usually there is a single or few transient seizures, which associate with acute encephalopathy visualized as posterior reversible syndrome in brain magnetic resonance imaging (MRI) and does not require anticonvulsive treatment in the follow-up.Correction of hyponatremia may be beneficial in patients with seizures (Tables 3 and and4).4). Insomnia and anxiety are usually mild and do not require additional medications but can be treated with benzodiazepines, such as lorazepam. Hallucinations are also signs of acute encephalopathy and should be treated with phenothiazine or olanzapine.

Prognosis of an acute attack

Duration of the diagnostic delay of an acute attack correlates with a fatal outcome mainly due to the administration of drugs known to precipitate AIP for a misdiagnosed attack. The causes of death are related to complications of prolonged ventilation and cardiac arrest.,,,, The majority of patients display full functional recovery even after a severe attack.
The mortality has decreased dramatically during the last decades among diagnosed AIP patients by 5%20% during an acute attack,, but it is still a potentially fatal disease.

Prevention of acute attacks

Avoidance of precipitating factors

In remission, patients may tolerate medications classified as potentially unsafe and alcohol, but if porphyric symptoms appear their use should be restricted.,, The education of patients and their family doctors about precipitating factors, including the information of safe and unsafe drugs, necessity of prompt treatment of infections, healthy lifestyle with regular normocaloric diet, avoidance of alcohol, if porphyric symptoms occur, and smoking, reduction of excessive stress are essential for patients prognosis.,, In the treatment of obesity, the patients with AIP should include carbohydrates into their diet, and the weight reduction should be done slowly.
DNA diagnostics among family members is recommended before the adulthood, since it decreases the likelihood of an acute attack to 5% in patients diagnosed at the presymptomatic phase. The prenatal screening in families with AIP is not recommended because of a low risk of severe attacks among mutation carriers and good therapy options even if acute attacks would develop.

Prevention of cyclical recurrent attacks

In women with AIP, the menstrual cycle is the most common precipitating factor (10%39%) manifesting usually with 13 months interval in premenstruum., In the majority cases, these attacks are mild and do not require hospitalization. Irregular cycles due to hormonal imbalance may predispose to cyclical attacks. However, in 3%5% of the women cyclical attacks are severe and frequent (up to 24 weeks interval),,which disable their lives. If the patient has recurrent attacks preventive therapy is needed.

Evaluation of the lifestyle

Usually these women have several precipitating factors simultaneously. It is important to first correct lifestyle, indicating cessation of smoking and use of alcohol or any medication or homeopathic drug which may be porphyrinogenic. Since body mass index (BMI) is commonly at the low or low normal level among women with recurrent attacks, gaining weight, at least a few kilos, may be beneficial to balance energy metabolism. Patients should avoid fasting and potential hypoglycemia by regular eating habits.

Evaluation of hormonal therapy in women

The exogenous hormonal therapy can be used, if lifestyle changes are insufficient to prevent attacks. Contraceptive pills have been used for prophylaxis of recurrent acute attacks for many years,, but not all women respond to this therapy even after 3 months of use. We have used ethinyl estradiol-levonorgestrel preparation successfully, and the responders have tolerated them well, even for years. About 46%58% of the Finnish and Swedish women with AIP and VP have used hormonal pills for contraception,, and the majority of them have had no complications in remission despite use of various progesterone compounds in combination with estrogen preparations. Intrauterine devices including levonorgestrel have not been reported to cause porphyric symptoms. Based on our results, we have let our patients use hormonal contraception under supervision.
Of note, contraceptive pills can also provoke acute attacks in 5%14% of the women with both latent and manifest AIP (24% of selected women with previously manifest AIP),, and as such many guidelines recommend not to use them.,, Tolerance to progesterone preparations may vary individually but estrogen preparations, especially used for menopausal symptoms, do not usually precipitate porphyric symptoms., Thus, it is important that the risk for potential complications and benefits of hormonal therapy are evaluated individually by a clinician. Excretion of porphyrin precursors should be controlled and hormonal preparations should be stopped, if symptoms suggestive for acute porphyria occur during their use.
In contrast, GnRH analogs inducing ovarian suppression are not porphyrinogenic and have been reported to diminish the severity and frequency of attacks in 60%80% of the women. The responders have more frequently had regular menstrual cycles and pronounce decrease in the estradiol level after the treatment with GnRH analogs when compared to the women who have been nonresponders or have responded only to a high dose of the preparation., Drug-induced menopause decreased the excretion of porphyrin precursors to 60% of the previous values in both groups.
The treatment should first be continued up to a few months, and thereafter its efficiency should be evaluated. If a longer period for treatment is needed, GnRH agonist can be combined with estrogen preparations to avoid osteopenia and other menopausal symptoms. Estrogen patches are preferred to avoid the first passage metabolism in the liver. Progesterone should be administered regularly to avoid increased risk of endometrial cancer during the postmenopausal estrogen therapy, but they may also induce acute attacks during the combination treatment. Intrauterine device with levonorgestrel has been used without complications in this compound hormonal therapy, and another option is to lower the dose of GnRH analogs to sustain natural sex-hormone level, which could prevent the long-term side effects of the GnRH agonist., The patients should be followed carefully and efficiently, and side effects and need for the combination therapy should be evaluated at regular intervals. Women with cyclical attacks may also become asymptomatic after their natural menopause. Screening of urinary excretions of PBG and ALA may elucidate the biochemical activity of the disease, and maybe useful to follow.

Prophylactic heme therapy

Regular heme infusions commonly alleviate the severity and frequency of recurrent attacks.,, The aim of this treatment is to decrease substantially the level of porphyrin precursors in plasma. The majority of patients respond well but the long-term treatment may induce dependence on the exogenic heme. As a result, a patient may have increased need for heme from monthly to twice a week infusions and withdrawal of the treatment is difficult due to severe porphyric symptoms. Frequent administrations of heme preparations may lead to thrombotic complications of superficial veins, and assessment of a permanent central venous catheter may be necessary. Moreover, long-term treatment of heme may lead to iron overload and organ damage due to hemosiderosis. Progressing hepatopathy, heart failure, and endocrinopathies may develop. Follow-up of plasma ferritin and transferrin saturation levels is necessary, and computed tomography (CT) or MRI reveal iron load in organs. Venesections are usually poorly tolerated but iron chelates may be used.

Liver transplantation in AIP patients with severe recurrent attacks

If the standard treatment is unsuccessful or quality of life is unbearable, liver transplantation is an option for severely affected patients., Currently, more than ten AIP patients have undergone liver (or liver-kidney) transplantation since 2004.,, It has been successful in the majority of cases resulting in immediate correction of abnormal porphyrin metabolism and cessation of attacks and chronic pain syndrome.Immunosuppressive drugs have been tolerated well by the patients, and their quality of life has improved dramatically. A few patients have died soon after liver transplantation mainly due to infections. Timing is also important in the liver transplantation. Patients should not wait too long in a too poor condition since the recovery from the operation and immunosuppression may associate with early complications such as infections or thromboembolic complications. If chronic motor neuropathy and encephalopathy have been present for years, the full recovery of neuronal damage may not be reached even after total normalization of porphyrin metabolism. Of note, partial liver transplantation has not corrected biochemical abnormalities or clinical manifestations permanently and should not be done. Moreover, transplantation of the HMBS deficient liver induced an abnormal porphyrin metabolism in a recipient.

Management of pregnancies

Previously, pregnancies were commonly complicated by acute attacks mainly during the first trimester and postpartum, and women with AIP were advised to avoid pregnancy. Currently, overall prognosis for pregnancy in AIP is good, especially if the diagnosis is known in advance and no porphyrinogenic drugs are used.,,
Cyclical attacks do not predict attacks during pregnancy, and pregnancy nowadays seldom precipitates acute attacks.,, Heme preparations have been used during pregnancy without fetal or maternal complications.,,, In some women, who have experienced cyclical attacks for many years, recurrent attacks have stopped after the first trimester of pregnancy, and these women have been asymptomatic thereafter., Thus, pregnancy may act as a hormonal therapy and could be even considered as an option for the women with cyclical attacks.

Long-term complications of AIP

Hypertension and renal insufficiency

The prevalence of hypertension is significantly higher in patients with manifest AIP than in general population.,,, Thus, early monitoring of blood pressure and efficient treatment with antihypertensive drugs is mandatory to avoid organ complications. This is especially crucial if renal failure is already present.
Monitoring of creatinine level in the follow-up of patients with manifested AIP shows mild to moderate elevation in 10%50% of the cases.,, This is significantly more common than in general population.,,,, Tubulointerstitial kidney disease has been the main presentation in a biopsy of the investigated cases.,, It has been commonly associated with recurrent acute attacks, hypertension, and use of anti-inflammatory drugs.,,, The main recommendation for renal protection include adequate drinking regimen, blood pressure control, and avoidance of anti-inflammatory or other nephrotoxic drugs according to the general guidelines. Patients with AIP and nephropathy, even mild, have an increased risk of deterioration of renal functions during an attack, and should be treated carefully with fluid therapy and hemodialysis if necessary.
Chronic hemodialysis may induce cutaneous symptoms in patients with AIP mimicking porphyria cutanea tarda (PCT). Since mainly ALA and PBG but not porphyrins have been filtered during dialysis, recurrent attacks were transformed to cutaneous manifestations in one patient. Use of high-flux hemodialysis and erythropoietin substitution might be of help since they remove plasma porphyrins and have alleviated clinical manifestation in PCT patients with end-stage renal failure., Kidney transplantation or combined liver and kidney transplantation have been done successfully and should be done whenever needed. The patients who have undergone kidney or liver transplantation should be followed up regularly because of increased risks of renal failure, hypertension, and cardiovascular complications. Metabolic changes and osteoporosis may also develop. Skin cancers and lymphomas are more common than in the general population and thus, extensive exposure to the sunlight and smoking should be avoided. Long-term complications are often multifactorial but commonly related to immunosuppressive drugs in use.

Hepatocellular carcinoma

Several population-based studies of AIP patients have shown an evidence of a significantly increased incidence of HCC in AIP compared to general population.,, The highest incidence of HCC (23%27%, more than 60-fold increased risk compared to general population) was shown in the Finnish and Swedish patients with AIP.,, In contrast to renal insufficiency, HCC has developed in patients with both symptomatic and asymptomatic AIP, although the patients with manifested AIP are likely at higher risk. Only in one-third of the cases, HCC has coexisted with liver cirrhosis or well-known risk factors for HCC, such as viral hepatitis or heavy alcohol consumption.,,, Hepatoma should always be considered if a patient develops acute attacks or an abdominal pain after long-term remission or abnormally high porphyrin excretion pattern even at the old age. Hepatomas can be solitary or multiple in AIP patients,, and should be treated according to current guidelines (ie, hepatic resection, local ablation therapies, multikinase inhibitors) whenever possible.,,
Since 10% of the patients with AIP die of hepatoma, the patients with AIP most likely benefit from regular screening for HCC after 50 years of age. Early diagnosis of HCC is crucial for the prognosis and can be achieved only by accurate radiological imaging.

Chronic pain

Among AIP patients with recurrent acute attacks, chronic neuropathic, myalgic, or abdominal pain usually accompanied by fatigue is common (18%22%)., This could be due to repetitive autonomic and peripheral nerve damage during acute attacks, and the long-term hypocaloric nutrition inducing catabolic stage and muscle atrophy. The mouse model of AIP, which is in contrast to human autosomal-dominant AIP caused by compound heterozygous mutations in HMBS gene (HMBS -/-) and severe deficiency of HMBS enzyme, has developed chronic axonal motor neuropathy even in the absence of acute attacks and elevated ALA levels. In humans, a homozygous AIP patient has developed a chronic sensorimotor neuropathy associated with severe neurodegenerative encephalopathy and mental retardation at his early childhood but no chronic pain syndrome has been present.
The treatment options include prevention of acute attacks as described earlier and prolonged treatment with gabapentin or antidepressants, such as fluoxetine. Prophylactic heme infusions commonly alleviate the chronic pain syndrome., Regular use of opiates induces tolerance to these drugs and high doses may increase the risk of side effects such as addiction, somnolence, and apnea.

Future therapies

rh-HMBS preparation has been shown to lower plasma PBG levels in symptom-free patients with increased excretion of urinary PBG. The similar biochemical effect of rh-HMBS therapy was demonstrated in theHMBS (/) mouse model. The rh-HMBS-enzyme replacement therapy, however, had no effect on the patients symptoms during acute attacks mainly due to constantly high plasma ALA levels. This may be due to the fact that the rh-HMBS included only the erythroid specific form of the enzyme and was not targeted to the liver, the main site of ALA overproduction. The potential development of rh-HMBS-enzyme replacement therapy should be focused on the delivery of an active enzyme into the liver restoring the normal HMBS activity and heme biosynthesis.
Both adenoviral-mediated and nonviral HMBS gene transfers corrected the metabolic defect in the cell lines of AIP patients and HMBS (/) mice. Only virus-mediated DNA transfer into the liver was successful and corrected metabolic defect in HMBS (/) mice at least for a month., Adenoviral cytotoxicity, especially, for hepatocytes, the immunological response to viral antigens, and only transient transduction of the therapeutic gene limit potential applications of this method. Adeno-associated viral (AAV) vector encoding HMBS and driven by liver-specific regulatory elements, such as α1-microglobulin enhancer and α1-antitrypsin promoter, is a promising alternative to the first-generation adenoviral vectors, since it demonstrated long-term transgene expression of HMBS in the liver with reduced risk of side effects.AAV vector encoding HMBS (recombinant AAV serotype 5-codon-optimized human HMBS, rAAV5-cohHMBS) has been used in macaques. The safety and efficiency of AAV vector containing the HMBSgene is currently investigated in the clinical trial (Phase I).
Small interfering RNA targeting liver ALA synthase results in reduction of ALA synthase mRNA and prevents acute attacks in AIP mouse model, and it is under development for human studies. This demonstrates that downregulation of liver heme biosynthesis via direct ALA synthase inhibitor could result in a promising future therapy.


Before the glucose and hematin treatment of an acute attack has been introduced, the mortality rate during an acute attack of AIP was up to 66%. Currently, the improved diagnostics, the early and effective treatment with heme preparations, and the prevention of acute attacks have decreased the mortality substantially. However, the morbidity and mortality (5%20%) of an acute attack is still significant if the diagnosis of AIP is delayed.,,, Thus, it is important that AIP patients are treated in the experienced centers with facilities that enable monitoring of their clinical and biochemical profile.
Current options to prevent acute attack include patients and family doctor education and family screening forHMBS mutation carriers. In patients with recurrent attacks, ovarian suppression using hormonal interventions, prophylactic heme therapy, or liver transplantation should be considered to improve the prognosis and quality of their lives. Future therapies, such as enzyme or gene delivery, should demonstrate clinical efficiency and safety before they can be applied to the clinical use. In the long-term follow-up, impaired renal function and hypertension should be treated carefully, and screening for hepatomas should be considered after 50 years of age.


The authors have participated in clinical trials organized by Zymenex, Alnylam, Clinuvel, and Boehringer Ingelheim, and as speakers in seminars organized by Orphan Europe. The authors report no other conflicts of interest in this work.


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92. Colombo M, Sangiovanni A. Treatment of hepatocellular carcinoma: beyond international guidelines.Liver Int. 2015;35(Suppl 1):129138. [PubMed]
93. Solis C, Martinez-Bermejo A, Naidich TP, et al. Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Arch Neurol.2004;61(11):17641770. [PubMed]
94. Lin TC, Lai SL, Hsu SP, Ro LS. Treatment of neuropathic pain in acute intermittent porphyria with gabapentin. J Formos Med Assoc. 2013;112(9):578579. [PubMed]
95. Johansson A, Moller C, Fogh J, Harper P. Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement. Mol Med. 2003;9(912):193199. [PMC free article] [PubMed]
96. Johansson A, Nowak G, Moller C, Blomberg P, Harper P. Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria. Mol Ther. 2004;10(2):337343. [PubMed]
97. Johansson A, Moller C, Harper P. Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery. Mol Cell Biochem. 2003;250(12):6571. [PubMed]
98. Johansson A, Moller C, Gellerfors P, Harper P. Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells. Scand J Clin Lab Invest. 2002;62(2):105113. [PubMed]
99. Johansson A, Nowak G, Moller C, Harper P. Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria. Mol Gen Metab. 2004;82(1):2026. [PubMed]
100. Tarner IH, Muller-Ladner U, Fathman CG. Targeted gene therapy: frontiers in the development of smart drugs Trends Biotechnol. 2004;22(6):304310. [PubMed]
101. Yasuda M, Bishop DF, Fowkes M, Cheng SH, Gan L, Desnick RJ. AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function. Mol Ther. 2010;18(1):1722. [PMC free article] [PubMed]
102. Paneda A, Lopez-Franco E, Kaeppel C, et al. Safety and liver transduction efficacy of rAAV5-cohPBGD in nonhuman primates: a potential therapy for acute intermittent porphyria. Hum Gene Ther.2013;24(12):10071017. [PubMed]
103. Augmenting PBGD expression in the liver as a novel gene therapy for acute intermittent porphyria (AIPgene) Hum Gene Ther Clin Dev. 2014;25(2):6163. [PubMed]
104. Yasuda M, Gan L, Chen B, et al. RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci USA.2014;111(21):77777782. [PMC free article] [PubMed]
105. Waldenström J. Studien uber Porphyrie [Studies of porphyria] Acta Med Scand. 1937;92(Suppl):1254.German.

Patient Meeting Results

Wednesday - December 9, 2015 @ 12:37:07

Patient Meeting Results

The Patient Educational Meeting, that we held last weekend in conjunction with the ASH convention, was a huge success. We would like to thank the doctors who has presented on the Meeting in Orlando, FL as well as our long-term member Amy Chapman for helping us to organize it. Also, special thanks to everyone who attend with their families and friends. We hope all who attend had a good experience.
Watch the APF E-news for the announcements about the upcoming meetings. Make sure your membership is up to date, so you receive all news.

"Remember.Research is the key to your cure!"

10 Ways to be happy! Start 2016 off right

Monday - December 7, 2015 @ 10:30:00

1. Dont start with profundities. When I began my Happiness Project, I realized pretty quickly that, rather than jumping in with lengthy daily meditation or answering deep questions of self-identity, I should start with the basics, like going to sleep at a decent hour and not letting myself get too hungry. Science backs this up; these two factors have a big impact on happiness.

2. Do let the sun go down on anger. I had always scrupulously aired every irritation as soon as possible, to make sure I vented all bad feelings before bedtime. Studies show, however, that the notion of anger catharsis is poppycock. Expressing anger related to minor, fleeting annoyances just amplifies bad feelings, while not expressing anger often allows it to dissipate.

3. Fake it till you feel it. Feelings follow actions. If Im feeling low, I deliberately act cheery, and I find myself actually feeling happier. If Im feeling angry at someone, I do something thoughtful for her and my feelings toward her soften. This strategy is uncannily effective.

4. Realize that anything worth doing is worth doing badly. Challenge and novelty are key elements of happiness. The brain is stimulated by surprise, and successfully dealing with an unexpected situation gives a powerful sense of satisfaction. People who do new thingslearn a game, travel to unfamiliar placesare happier than people who stick to familiar activities that they already do well. I often remind myself to Enjoy the fun of failure and tackle some daunting goal.
5. Dont treat the blues with a treat. Often the things I choose as treats arent good for me. The pleasure lasts a minute, but then feelings of guilt and loss of control and other negative consequences deepen the lousiness of the day. While its easy to think, Ill feel good after I have a few glasses of wineâ?¦a pint of ice creamâ?¦a cigaretteâ?¦a new pair of jeans, its worth pausing to ask whether this will truly make things better.

6. Buy some happiness. Our basic psychological needs include feeling loved, secure, and good at what we do. You also want to have a sense of control. Money doesnt automatically fill these requirements, but it sure can help. Ive learned to look for ways to spend money to stay in closer contact with my family and friends; to promote my health; to work more efficiently; to eliminate sources of irritation and marital conflict; to support important causes; and to have enlarging experiences. For example, when my sister got married, I splurged on a better digital camera. It was expensive, but it gave me a lot of happiness.

7. Dont insist on the best. There are two types of decision makers. Satisficers (yes, satisficers) make a decision once their criteria are met. When they find the hotel or the pasta sauce that has the qualities they want, theyre satisfied. Maximizers want to make the best possible decision. Even if they see a bicycle or a backpack that meets their requirements, they cant make a decision until theyve examined every option. Satisficers tend to be happier than maximizers. Maximizers expend more time and energy reaching decisions, and theyre often anxious about their choices. Sometimes good enough is good enough.

8. Exercise to boost energy. I knew, intellectually, that this worked, but how often have I told myself, Im just too tired to go to the gym? Exercise is one of the most dependable mood-boosters. Even a 10-minute walk can brighten my outlook.
9. Stop nagging. I knew my nagging wasnt working particularly well, but I figured that if I stopped, my husband would never do a thing around the house. Wrong. If anything, more work got done. Plus, I got a surprisingly big happiness boost from quitting nagging. I hadnt realized how shrewish and angry I had felt as a result of speaking like that. I replaced nagging with the following persuasive tools: wordless hints (for example, leaving a new lightbulb on the counter); using just one word (saying Milk! instead of talking on and on); not insisting that something be done on my schedule; and, most effective of all, doing a task myself. Why did I get to set the assignments?

10. Take action. Some people assume happiness is mostly a matter of inborn temperament: Youre born an Eeyore or a Tigger, and thats that. Although its true that genetics play a big role, about 40 percent of your happiness level is within your control. Taking time to reflect, and making conscious steps to make your life happier, really does work. So use these tips to start your own Happiness Project. I promise it wont take you a whole year.

                           "Remember.Research is the key to your cure!"

Ways to Improve Your Health

Friday - December 4, 2015 @ 10:30:00

WHO wants to be sick? At the very least, an illness is an inconvenience and an expense. You not only feel bad, but when you are sick, you may not be able to go to work or school, earn any money, or look after your family. You may even need someone to look after you, and you may have to pay for expensive medicines and treatment.
Well has it been said that Prevention is better than cure. Some illnesses cannot be avoided. Still, there is much you can do to slow down or even prevent the onset of illness. Consider five things that you can do today to get on the road to better health.


Items used for good physical and dental hygiene
According to the Mayo Clinic, one of the best ways to avoid getting sick and spreading illness is to wash your hands. One of the easiest ways to catch a cold or influenza is to rub your nose or your eyes when your hands have been contaminated by germs. Your best defense against such contamination is to wash your hands regularly. Good hygiene can also prevent the spread of more serious conditions, such as pneumonia and diarrheal diseases, which every year cause the death of over two million children under the age of five. Even the spread of deadly Ebola can be minimized by the simple habit of washing hands.
There are certain times when hand washing is particularly important to protect your own health and that of others. You should wash your hands:
  • After using the toilet.
  • After changing diapers or helping a child to use the toilet.
  • Before and after treating a wound or a cut.
  • Before and after being with someone who is sick.
  • Before preparing, serving, or eating food.
  • After sneezing, coughing, or blowing your nose.
  • After touching an animal or animal waste.
  • After handling garbage.
And do not take it for granted that you are cleaning your hands properly. Studies have shown that a large percentage of those who use public toilets do not wash their hands afterward or do not wash them correctly. How should you wash your hands?
  • Wet your hands in clean running water and apply soap.
  • Rub your hands together to make a lather, not forgetting to clean your nails, your thumbs, the backs of your hands, and between your fingers.
  • Keep rubbing for at least 20 seconds.
  • Rinse in clean running water.
  • Dry with a clean cloth or a paper towel.
Such measures are simple but can avert illness and save lives.


A glass of clean water and pieces of lemon
Obtaining sufficient clean water for ones family is a regular chore in some countries. Yet, access to clean water can become a concern inany part of the world when a main supply that is usually good to drink becomes contaminated as a result of a flood, a storm, a pipe break, or some other issue. If water does not come from a safe source or is not stored correctly, it can cause parasite infestation, as well as cholera, life-threatening diarrhea, typhoid, hepatitis, and other infections. Unsafe drinking water is one of the causes of an estimated 1.7 billioncases of diarrheal disease every year.
There is much you can do to slow down or prevent the onset of illness
Cholera is most often contracted when a person drinks water or eats food that is contaminated with fecal matter from infected people. What steps can you take to protect yourself, even in the immediate aftermath of a disaster, from this and other types of water contamination?
  • Ensure that all your drinking waterincluding the water used for brushing teeth, making ice, washing food and dishes, or cookingcomes from a safe source, such as an adequately treated public supply or sealed bottles from a reputable firm.
  • If there is any possibility that your piped supply has been contaminated, boil your water before use or treat it with an appropriate chemical product.
  • When using chemicals, such as chlorine or water-purifying tablets, follow the makers directions carefully.
  • Use quality water filters, if available and affordable.
  • If no water-treatment products are available, add household bleach, eight drops per gallon of water (two drops per liter), mix well, and then let the water stand for 30 minutes before using it.
  • Always store treated water in clean, covered containers to protect it from possible recontamination.
  • Ensure that any vessel used to take water from your stored supply, such as a ladle, is clean.
  • Handle water containers with clean hands, and do not dip your hands or fingers into water used for drinking.


A variety of wholesome foods from different food groups
Good health is impossible without good nutrition, and for good nutrition you need a healthy, balanced diet. You may need to consider your intake of salt, fats, and sugar, and you should watch your portion sizes. Include fruits and vegetables in your diet, and vary what you eat. Reading the packaging will help you to select whole-grain foods when buying bread, cereals, pasta, or rice. These are richer in nutrients and fiber than the alternatives made from refined grain. As for proteins, eat small and lean portions of meat and poultry and try to eat fish a couple of times a week, if possible. In some lands it is also possible to find protein-rich foods from vegetable sources.
If you eat too many sugars and solid fats, you risk becoming overweight. To minimize this risk, drink water instead of sweet beverages. Eat more fruit instead of sugary desserts. Limit your intake of solid fats from such items as sausages, meat, butter, cakes, cheese, and cookies. And instead of using solid fats for cooking, you may want to use healthier oils.
Too much salt, or sodium, in the diet can raise your blood pressure to an unhealthy level. If this is your problem, use the information on food packaging to keep your sodium intake low. Instead of salt, use herbs and spices to flavor your meals.
How much you eat can be as important as what you eat. So, while enjoying your food, do not keep eating after you are no longer hungry.
An issue tied to nutrition is the risk of food poisoning. Any food can poison you if it is not prepared and stored properly. Every year, 1 out of every 6 Americans falls sick from food poisoning. Most recover without lasting ill effects, but some die from it. What can you do to minimize the risk?
  • Vegetables grow in soil that may have been treated with manure, so wash these items carefully before preparing them.
  • Wash your hands, cutting board, utensils, dishes, and countertops with hot, soapy water before preparing each item.
  • To avoid cross-contamination, never put food on a surface or plate that was previously in contact with raw eggs, poultry, meat, or fish, without first washing that surface.
  • Cook until the food reaches the right temperature, and promptly refrigerate any perishable items that are not going to be eaten immediately.
  • Discard perishable items left at room temperature for more than two hours or one hour if air temperature exceeds 90 degrees Fahrenheit (32°C).


A soccer ball and a pair of soccer shoes
Regardless of your age, you need regular physical activity to stay in good shape. Many people today do not exercise enough. Why is exercise important? Staying physically active can help you to:
  • Sleep well.
  • Stay mobile.
  • Maintain strong bones and muscles.
  • Maintain or achieve a healthy weight.
  • Lower your risk of suffering from depression.
  • Lower your risk of premature death.
If you do not stay physically active, you are more likely to:
  • Suffer from heart disease.
  • Suffer from type 2 diabetes.
  • Develop high blood pressure.
  • Develop high cholesterol.
  • Suffer a stroke.
The kind of physical activity that is right for you depends on your age and your health, so it would be wise to consult your doctor before beginning any new exercise program. According to various recommendations, children and adolescents should get at least 60 minutes of moderate-to-vigorous activity every day. Adults should get 150 minutes of moderate activity or 75 minutes of vigorous activity every week.
Choose an activity that is fun. You might consider basketball, tennis, soccer, brisk walking, cycling, gardening, chopping wood, swimming, canoeing, jogging, or other aerobic exercise. How can you tell whether an activity is moderate or vigorous? A general guide would be that moderate activity makes you sweat, but more vigorous exercise makes it hard for you to hold a conversation while doing it.


A quiet and relaxing bedroom
The amount of sleep needed varies from person to person. Most newborns sleep for 16 to 18 hours a day, toddlers about 14 hours, and preschoolers about 11 or 12. School-age children generally need at least 10 hours of sleep, adolescents perhaps 9 or 10, and adults from 7 to 8.
Getting the right amount of rest should not be considered optional. According to experts, sufficient sleep is important for:
  • Growth and development in children and teenagers.
  • Learning and retention of new information.
  • Maintaining the right balance of hormones that impact metabolism and weight.
  • Cardiovascular health.
  • Disease prevention.
Insufficient sleep has been linked to obesity, depression, heart disease, diabetes, and tragic accidents. Surely these give us good reason to want to get enough rest.
So, what can you do if you realize that you have a problem getting enough sleep?
  • Try to go to bed and get up at the same time every day.
  • Make your bedroom quiet, dark, relaxing, and neither too warm nor too cold.
  • Do not watch TV or use gadgets while in bed.
  • Make your bed as comfortable as possible.
  • Avoid heavy meals, caffeine, and alcohol before bedtime.
  • If after applying these suggestions you still suffer from insomnia or other sleep disorderssuch as excessive daytime sleepiness or gasping for breath while sleepingyou may want to consult a qualified health-care professional.
                           "Remember.Research is the key to your cure!"

What You Should Know About Mental Disorders

Wednesday - December 2, 2015 @ 17:10:21

I felt as though I had my breath knocked out of me, says Claudia, who had just been told she had bipolar disorder and post-traumatic stress disorder. Dealing with the stigma of a mental illness seemed overwhelming.
It took a long time to come to terms with our situation, says Claudias husband, Mark. But I realized that I had to focus on supporting my wife.
IF YOU or someone you love were diagnosed with a mental disorder, how would you feel? Thankfully, mental illness can be treated. Let us examine a few things you should know that will give you a better understanding of mental disorders. *

 Key Facts About Mental Health

Mental disorders afflict hundreds of millions of people in every part of the world and impact on the lives of their loved ones. One in four people will be affected by mental disorder at some point in their lives. Depression is the single largest contributor to worldwide disability. Schizophrenia and bipolar disorder are among the most severe and disabling disorders. . . . Although huge numbers of people are affected, mental disorders remain hidden, neglected and discriminated against.World Health Organization (WHO).
According to WHO, many people with mental illness refrain from seeking treatment because of the stigma associated with it.
Although most mental disorders are treatable, in the United States approximately 60 percent of adults and almost 50 percent of youths aged 8 to 15 with a mental disorder did not receive treatment in the past year, reports the National Alliance on Mental Illness.

 Understanding Mental Disorders

A woman with a mental disorder
What is mental illness? Experts define a mental disorder as a significant dysfunction in a persons thinking, emotional control, and behavior. The condition often disrupts a persons ability to relate to others and to deal with the demands of life.
Mental-health disorders are not the result of personal weakness or a character flaw
The severity of symptoms can vary in length and intensity, depending on the individual and the particular ailment and circumstances. It can affect people of any gender, age, culture, race, religion, or educational and income level. Mental-health disorders are not the result of personal weakness or a character flaw. Through appropriate medical care, individuals can be treated and can live a productive and fulfilling life.

Treating Mental Disorders

Mental-health professionals can treat many mental-health disorders successfully. The first crucial step, then, is to obtain a thorough assessment from a competent health professional who is experienced in treating mental conditions.
A woman with a mental disorder talking with a qualified health professional
Sufferers, however, can benefit from such experience only when they accept suitable treatment. This may require overcoming any reluctance to talk to others about a mental illness. Treatment may include talking to trained mental-health professionals who can help them understand their illness, resolve practical problems, and reinforce the need not to give up the treatment. At such consultations, a family member or friend can play a vital role by providing reassurance and support.
Many people have learned to deal with mental disorders after acquiring a better understanding of their condition and following the treatment prescribed by mental-health professionals. Before my wife was diagnosed, says Mark, quoted earlier, we had little understanding of mental illness. But weve learned to take life one step at a time and adapt to our situation. Over time, we have benefited from the support of reliable professionals as well as family and friends.
The first crucial step is to obtain a thorough medical assessment from a competent health professional
 Claudia agrees. In the beginning, my diagnosis felt like a prison sentence, she admits. But even though my illness places limitations on both of us, I have learned that seemingly impossible hurdles can be overcome. So I cope with my mental illness by working together with my treatment team, nurturing relationships with others, and taking one moment at a time.

Spiritual Health Is Vital

A woman reading the Bible
The Bible does not indicate that spirituality cures medical problems. Still, many families around the world have derived much comfort and strength from what the Bible teaches. For instance, the Bible assures us that our loving Creator is keenly interested in consoling those who are brokenhearted and crushed in spirit.Psalm 34:18.
While the Bible is not a health-care book, it provides practical guidance that can help us to cope with painful emotions and distressing circumstances. The Bible can also give us hope for a future when life on earth will be free of illness and pain. Gods Word promises: At that time the eyes of the blind will be opened, and the ears of the deaf will be unstopped. At that time the lame will leap like the deer, and the tongue of the speechless will shout for joy.Isaiah 35:5, 6.

Upcoming Patient Educational Meeting

Thursday - December 3, 2015 @ 16:04:24

Upcoming Patient Educational Meeting
Date and Time:  Sunday, December 6, 2015,  4:00 - 6:00 PM ET
* Presentations by World Renowned Porphyria Experts. We are expecting to have Dr. John Phillips, Dr. Charles Parker (University of Utah School of Medicine) and Dr. Samuel Silver (University of Michigan Medical School) present at the meeting.
* Opportunity to Participate in a Q & A Session.
* Meet Friends who Share Your Experiences with Porphyria. 
* View the Latest Educational Material from the American Porphyria Fdn.
Location: Ramada Plaza Resort & Suites International Drive Orlando
6500 International Drive, Orlando, FL 32819-8218
You are welcome to bring family members and friends. Please RSVP:  1.866.APF.3635  or  Email:

"Remember.Research is the key to your cure!"

DepressionHow Does It Feel?

Monday - November 30, 2015 @ 10:30:01

DepressionHow Does It Feel?

I WOKE up one morning when I was 12 years old, remembers James, * sat on the edge of my bed, and wondered, Is today the day I die? James was in the grip of major depression. Every day of my life, says James 30 years later, I have fought this emotional and mental illness. James felt so worthless when he was young that he tore up his childhood photographs. I didnt even think that I was worth remembering, he recalls.
Because we all contend with feelings of sadness occasionally, we could conclude that we understand what depression is all about. But how does it feel to have clinical depression?

A Cruel Intruder

More than just a spell of melancholy blues, clinical depression is a grave disturbance that often hinders a person from carrying out daily activities.
For example, for more than 40 years, Ã?lvaro has been afflicted with fear, mental confusion, anguish, and deep sorrow. He explains: My depression made it difficult for me to deal with the opinions of others. I always felt responsible for everything that went wrong. He describes depression as having a terrible pain without knowing where the pain is located, fear without knowing why and, worst of all, absolutely no desire to talk about it. Now, though, he has found some relief. He knows the cause of his symptoms. He says, Knowing that others have the same problem that I have has made me feel better.
In Brazil, 49-year-old Maria was afflicted with depression that caused insomnia, pain, irritability, and a seemingly unending feeling of sadness. When her condition was first diagnosed, Maria was relieved to put a name to the cause of her suffering. But then I became more anxious, she explains, because so few people understand depression and it carries a stigma.

Nothing to Be Sad About?

Although depression sometimes has an obvious trigger, it often intrudes on a persons life without warning. Your life is suddenly darkened by a cloud of sadness for no apparent reason, explains Richard from South Africa. Nobody you know has died, and nothing distressing has occurred. Yet, you feel dejected and listless. And nothing will make the cloud go away. You are overwhelmed by feelings of despair, and you dont know why.
Depression is nothing to be ashamed of. Yet, Ana in Brazil felt ashamed to be diagnosed with depression. In fact, eight years later I still feel ashamed of myself, she admits. In particular, she finds it difficult to deal with her emotional anguish. The suffering is sometimes so intense, she explains, that I feel physical pain. All the muscles in my body hurt. At such times it is almost impossible to get out of bed. And then there are the times when Ana cannot stop crying. I sob  with such intensity and become so exhausted, she says, that it feels as though my blood has stopped circulating.
Your life is suddenly darkened by a cloud of sadness for no apparent reason
The Bible acknowledges that people can become dangerously low in spirit. For instance, the apostle Pauls concern about one man was that he might be swallowed up by his being overly sad [swallowed up in overwhelming depression, Jewish New Testament]. (2 Corinthians 2:7) Some depressed people become so distraught that they wish they could just fall asleep in death. Many feel as did Jonah the prophet: My dying is better than my being alive.Jonah 4:3.
What can depressed ones do to treat and cope with this distressing malady?
    "Remember.Research is the key to your cure!"


Thursday - November 26, 2015 @ 09:30:00

November 25, 2015

Dear EPP Family,

We are a volunteer team, working with the APF to secure your EPP patient experiences in letter-form so that we can take them collectively to the FDA to ask them for the accelerated approval of the drug Afamelanotide.

Your contributions to previous letter campaigns worked.  They convinced the FDA to approve Phase III of the drug trials in the USA, and our American letters helped convince the European Medicines Agency to grant approval of the drug in the European Union.  Now it is our turn to seek approval for Afamelanotide by the FDA in the USA!

Our goal is twofold:  (1) to collect more than 300 letters from patients, family and friends by December 15, 2015 and (2) for all of us to reach out to our US Congress Representatives to ask for their help. 

Enclosed please find an overview of the letter writing campaign with tips and instructions (who, what, why, where and when).  In addition, there is a US Congressional Caucus called the Rare Disease Legislative Advocates (RDLA).  You can ask your Congress Member to join.  Simple instructions and an online link are also enclosed.  It takes less than 5 minutes to complete the request online!

If you have any questions, please reach out to us or to the APF.  Let's make this happen.  Patient advocacy works. THANK YOU FOR PARTICIPATING!


Rebecca Griffiths:
George Hodder:
Victor Mejias:
Pierre Mouledoux:
Martha Peterson:
Gayle von Seggern:

NOVEMBER 25, 2015

·         You (Erythropoietic Protoporphyria patients), your family and your friends
·         Please note that this is a patient-driven letter writing campaign as we are acting independently of the drug company

·         We need to collect as many patient EPP experiences as possible addressed to the Director at the Center for Drug Evaluation and Research at the FDA's Division of Dermatology
(See enclosed letter template)
·         You may also wish to send a copy of your letter to your US Congress Representative and Senators in Washington DC.  Please look them up through this link and add their names to the cc list at the end of your letter.  We will ensure a copy is sent to them.
·         Once we collect all your letters, the APF will deliver the full stack of letters, in person, to the FDA and ask for the accelerated approval for Afamelanotide
(This meeting is likely to happen in January 2016)
·         We ask that each patient with EPP commit to providing at least 3 letters (from yourself and at least 2 others; of course, more than 3 letters is most welcome)
·         Parents of EPP children, we especially encourage the children to participate and write letters

Tips for Patient Letters:
o    Please ask for the FDA to accelerate the approval for Afamelanotide
o    Please focus your letters on 4 topics that we know the FDA is keen to understand the most.  These are topics that only, us patients, can tell:  How EPP affects your ability (1) to attend school and/or (2) work and/or (3) complete everyday tasks as well as  (4) your experience during the drug trials, if applicable
o    Although EPP skin reactions are not always visible, if you have photos that demonstrate swelling, scarring, scabbing etc., please include them with your letters
Tips for Friends and Family Letters:  
o    Please ask for the FDA to accelerate the approval for Afamelanotide
o    Please focus your letters on your observations of how EPP affects your friend or family member, how hard it is for him/her (the EPP patient) and even how it effects him/her as well as how it affects you and/or your family
·         Patient advocacy works
·         We believe that our advocacy is critical to ensure approval of the drug
·         Independent of the drug company, it is important that we demonstrate why we need this drug

·         Do NOT send your letters directly to the FDA
(1)    The American Porphyria Foundation, 4900 Woodway, Suite 780, Houston, TX 77056
(2)    OR Email:
·         Send a signed hard copy by mail to the APF OR scan your signed letter and email it electronically to the APF

·         Please provide letters to the APF by December 15, 2015

* * * * *

Letter Template

[Insert Date]

Kendall Marcus, M.D.
Director, Division of Dermatology and Dental Products
Center for Drug Evaluation and Research
Food and Drug Administration
White Oak Campus, WO 22/Rm. 5202
10903 New Hampshire Avenue
Silver Spring, MD 20993

Dear Dr. Marcus:

[Insert your letter here]


[Your signature here]
[Insert your name here]
Age, [insert] years old
[Insert your address here:
# Street
Town, State  Zip Code]

[EPP patients, please cc your one US Congress Representative and your two US Senators, e.g.:

cc: The Honorable Cory Booker (D-NJ, United States Senate), The Honorable Bob Menendez (D-NJ, United States Senate), The Honorable Rodney Frelinghuysen (R-NJ, 11th District, United States Congress)]


An excerpt from the RDLA's website:

Rare Disease Legislative Advocates (RDLA) is a collaborative organization designed to support the advocacy of all rare disease groups. Our goal is to empower the patient to become an advocate! By growing the patient advocacy community & working collectively we can amplify our many voices to ensure rare disease patients are heard in State & Federal Government.

As an advocate for patients with rare diseases you are a very important part of the legislative process. You can make the difference as you are the voices your legislators and congressmen want, or in some cases do not want to hear. Please complete the form via the link below and contact your Member of Congress to ask them to join the RDLA.

EPP Patients: 

The RDLA has made it simple for you to send your Congress Member an email letter request.  All you need to do is copy and paste this link into your online browser to go to their website form.  Then input your name and address.  Your Congress Member's details will automatically populate a letter request and you will be able to insert a few sentences about yourself and EPP and send the email:         

Notice: You will send the original letter to the APF and send a copy to your Congressmen.

Thank you

"Remember.Research is the key to your cure!"

Public Service Announcement American Porphyria Foundation

Wednesday - November 25, 2015 @ 10:30:00

We hope that you will enjoy this wonderful day with good health in mind.  We thank you for all of your support and will continue to bring you new research and information about EPP Drug approval and Acute Porphyria Studies starting soon.  If you have any questions please feel free to contact the APF 1-866-APF-3635.  We thank you again for your continued support.  Stay Happy & Well.

                                                           APF Staff & Volunteers

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                     "Remember.Research is the key to your cure!"

Shadow Race in Vernon, TX was a success!

Friday - November 20, 2015 @ 10:30:01

Shadow Race in Vernon, TX was a success!
The Cook Family: "Thank you to all of the sponsors for the 1st Annual Shadow Race in Vernon, Texas!  We cannot thank you enough for the support in raising awareness for Porphyria.  In our 1st annual race we were able to collect monetary donations, totaling $5000 for the "added money".  Also donated were items such as custom made buckles, custom made spur straps, Total Equine Feed, head stalls, hay bags, rope halters, and other horse maintenance supplies.   Pizza, candy, homemade cinnamon rolls, and drinks were donated for the concession stand and t-shirts were sold.  In all we were able to donate $4000 to the American Porphyria Foundation and pay out $11,600 to the winners!  A huge thank you to all that supported and or donated!  We look forward to the 2nd Annual Shadow Race in 2016 and hope you will consider giving again!"

Cason and Caul, brothers with EPP.

From NCBI CYP2D6 Polymorphisms in Patients with Porphyria PCT Type

Thursday - November 19, 2015 @ 14:45:53

Logo of molmedLink to Publisher's site
Mol Med. 2006 Sep-Oct; 12(9-10): 259263.
PMCID: PMC1770015

CYP2D6 Polymorphisms in Patients with Porphyrias


The cytochrome P-450 (CYP) isoenzymes are a superfamily of heme proteins which are the terminal oxidases of the mixed-function oxidase system (). The 1 to 3 families of CYP are responsible for 70% to 80% of all phase Idependent metabolism of clinically used drugs (). CYP2D6 isoform metabolizes more than 25% of most common drugs, including antiarrhythmics, antidepressants, beta blockers, neuroleptics, and opioids (). CYP2D6 gene is extremely polymorphic, and more than 70 allelic variants have been described (,); as a result, metabolism and excretion rates of drugs vary between individuals, from extremely slow to ultra-fast. Different phenotypes can be distinguished: poor metabolizers (PM) lack the functional enzyme; intermediate metabolizers (IM) carry 2 different alleles, leading to partial activity; efficient metabolizers (EM) have 2 normal alleles; efficient intermediate metabolizers (EIM) are heterozygous for 1 deficient allele; and ultra-rapid metabolizers (UM) have multiple gene copies (). The clinical consequences of genetic polymorphisms in drug metabolism depend on whether the activity of the drug lies with the substrate or its metabolite, as well as the extent to which the affected pathway contributes to the overall elimination of the drug (). For example, the mutant CYP2D6*3 (CYP2D6A) allele with the A2637 deletion in exon 5 and the mutant CYP2D6*4 (CYP2D6B) allele with a G1934A splice site defect are among the most common mutations. These mutations result in decreased or lack of CYP2D6 isoenzyme activity, leading to PM phenotype (). PM individuals have an increased risk for adverse side effects or therapeutic failure following drug treatment.
Porphyrias are a group of inherited or acquired metabolic disorders of heme biosynthesis in which specific patterns of overproduction of heme precursors are associated with characteristic clinical features. Each type of porphyria is the result of a specific decrease in the activity of one of the enzymes of the heme pathway (). Porphyrias are classified as acute, cutaneous, or mixed according to clinical features. Acute attacks characteristic of acute intermittent porphyria (AIP) and variegate porphyria (VP), both hereditary, are often triggered by exposure to exogenous precipitating factors () including a wide range of commonly prescribed drugs. There are two main forms of porphyria cutanea tarda (PCT): type I (sporadic or acquired) and type II (familial or hereditary) in which the enzyme activity of uroporphyrinogen decarboxylase (URO-D) is reduced to approximately 50% of normal in all tissues. In type I PCT, subnormal URO-D activity is restricted to the liver. There is also a form of familial PCT called type III, in which a family history of PCT is observed, but subnormal URO-D activity is restricted to the liver. No mutations have been found in the URO-D gene in types I and III. PCT triggering is frequently associated with exposure to precipitating agents, such as polyhalogenated aromatic hydrocarbons, alcohol abuse, estrogen ingestion, iron overload, and infections ().
CYP enzymes participate in the metabolism of some porphyrinogenic drugs, leading to the deregulation of heme biosynthesis, which would influence the pathogenesis of porphyrias. Considering that some of the drugs not recommended for use in porphyric patients are metabolized by CYP2D6, inheritance of polymorphic CYP2D6 metabolizing genes would be an important determinant of individual variation in acute symptoms. Moreover, the presence of CYP2D6 polymorphisms in porphyric patients with genetic or biochemical alterations in any of the enzymes of the heme pathway would influence the triggering of the disease when these individuals received a precipitating agent that was metabolized by CYP2D6. The aim of this work was to investigate CYP2D6 polymorphisms in porphyric patients. To this end, CYP2D6*3 and CYP2D6*4 alleles were studied in healthy volunteers, porphyric patients, and a group of individuals with high levels of iron.


All primers used for PCR analysis were synthesized by Fagos Laboratory (Buenos Aires, Argentina). All other chemicals and reagents were of molecular grade from Merck, Sigma, Promega, Ambion, Bio Labs and Amersham; Taq DNA polymerase was from Invitrogen. Digestion enzymes were from Bio Labs.


A total of 120 subjects51 healthy volunteers, 50 porphyric patients, and 19 individuals with high iron levelswere included in the study, all of Caucasian origin. The porphyric patient group (Table 1), previously studied in the Centro de Investigaciones sobre Porfirinas y Porfirias, consisted of 20 individuals diagnosed with AIP, 15 with PCT, and 15 with VP. All patients were diagnosed biochemically and genetically except 3 PCT individuals who were diagnosed only biochemically. All the individuals with high iron levels were normal for mutations in HFE gene responsible for hereditary hemochromatosis type I. All subjects gave their informed consent to participate in this study.
Table 1
Data of patients with porphyria.


Genomic DNA was extracted from EDTA-collected whole blood samples using the GFX Genomic Blood DNA Purification Kit (Amersham). Target DNA (0.51 μg) was amplified by PCR as described by Daly et al. () with slight modifications. CYP2D6*3 and CYP2D6*4 alleles were detected by amplification of the region of interest using primers G1 (bp 18271846; 5â?²-TGCCGCCTTCGCCAA CCACT-3â?²) and B1 (bp 26382657; 5â?²-GGCTGGGTCCCAGGTCATAC-3â?²). The reaction was carried out in a total volume of 50 μl containing 14 mM Tris-HCl, pH 8.3, 2 mM MgCl2, 5% dimethyl sulfoxide with 0.2 mM dTNPs, 0.52 μM primers, and 2.5 units Taq DNA polymerase. For amplification, 30 cycles were carried out of 1 min at 95 °C, 1 min at 62 °C, and 3 min at 70 °C in a PTC 100 Research Mini Cycle thermocycler. The product (25 μL) was digested with 12.5 units of BsaAI and 15 units of BstNI restriction enzymes, at 50 °C for 3 h. To control the digestion by BsaAI, GADPH gene, amplified by separate PCR reaction, was added to the CYP2D6 digestion. The GAPDH PCR was carried out using the primers R4 (5â?²-AGAAACAGGAGGTCCCTACT-3â?²) and R5 (5â?²-GTCGGGTCAACGCTA GGCTG-3â?²) and similar conditions to those for CYP2D6 amplification. The digest was analyzed on a 8% polyacrylamide gel using 1% TBE as the buffer, and the gel was stained with ethidium bromide.

Statistical analysis

Data were analyzed using Ï?2 test. P < 0.05 was considered significant.


Figure 1 shows representative band patterns found for wild-type and CYP2D6*3 and CYP2D6*4 mutant variants of CYP2D6 gene in all the subjects analyzed. Between 3 and 6 bands for mutant and wild-type variants were observed. One of these bands was distinctive for CYP2D6*3 (160 bp) and the other was distinctive for CYP2D6*4 (388 bp). wt/wt pattern showed 4 bands (280, 168, 139, and 109 bp). In the case of wt/*3 or wt/*4, bands of 160 bp and 388 bp appeared, respectively. *3/*3 pattern presented the band of 160 bp but not the corresponding band of 168 bp; in *4/*4 pattern, the band of 388 bp was present while the bands of 109 bp and 280 bp were absent. *3/*4 individuals presented both bands of 160 bp and 388 bp. The bands of 500 bp corresponded to GAPDH gene.
Figure 1
Representative band patterns of CYP2D6*3 and CYP2D6*4 alleles. Band pattern observed for the wild-type (wt/wt ), heterozygous (*3/wt, *4/wt ), compound heterozygous (*3/*4), and homozygous (*3/*3, *4/*4) CYP2D6 alleles. M indicates marker of 100 bp. Lanes 
Genotype distribution of CYP2D6 alleles among healthy subjects and porphyric patients is shown in Table 2. In the control group, 5.8% (3 of 51) were heterozygous for CYP2D6*3 and 33.3% (17 of 51) for CYP2D6*4 allele; 1 of 51 (1.9%) was homozygous for CYP2D6*3 and CYP2D6*4. In the PCT group, 26.6% (4 of 15) were heterozygous for CYP2D6*4 and 1 of 15 (6.6%) was homozygous for this allele. In the AIP group, 10% (2 of 20) were heterozygous for CYP2D6*4. In the VP group, 26.6% (4 of 15) were heterozygous for CYP2D6*4, and 1 of 15 (6.6%) was double heterozygous (both CYP2D6*3 and CYP2D6*4). In individuals with high levels of iron, 15.7% (3 of 19) were heterozygous for CYP2D6*4; the same percentage were homozygous, significantly different from the control group (P < 0.05). None of the patients with porphyria or high iron was found to be homozygous for CYP2D6*3.
Table 2
Genotype distribution.
The frequency of CYP2D6 alleles observed is shown in Table 3. In the control group, 4.9% of alleles (5 of 102) were CYP2D6*3 and 18.6% (19 of 102) were CYP2D6*4. The PCT group showed a frequency of 20% (6 of 30) CYP2D6*4. In the AIP group only 5% (2 of 40) were CYP2D6*4 (P < 0.05); in the VP group, the frequency of this allele was 16.6% (5 of 30). The PV group showed a frequency of 3.3% (1 of 30) CYP2D6*3. In individuals with high levels of iron, CYP2D6*4 frequency was 23.6% (9 of 38). Results obtained for the PCT, PV, and high iron groups were no different from the control group.
Table 3
Frequency of CYP2D6 alleles.
The predicted phenotype distribution is shown in Table 4. The phenotype was predicted according to the genotypes as follows: EM carried 2 CYP2D6 wild-type alleles, EIM carried 1 deficiency and 1 wild-type allele, and PM were homozygous for 2 deficiency alleles. In the control group, 56.9% were identified as EM, 39.1% as EIM, and 3.9% as PM. In the AIP group, 90% were classified as EM and 10% as EIM. In the PCT and VP group, 66.8% were classified as EM, 26.6% as EIM, and 6.6% as PM. In the group with high levels of iron, 68.6% were identified as EM and 15.7% as EIM and PM.
Table 4
Phenotype distribution.


CYP2D6 is one of the most studied polymorphic genes, and its clinical relevance and allelic frequency have been extensively investigated in different ethnic groups (,). To date, no data in the Argentinean population or in porphyric individuals worldwide have been reported. Our results showed a frequency of 18.6% CYP2D6*4 allele in the healthy group. The frequency of this allele was similar to that reported for other Caucasian populations (,,). The CYP2D6*3 frequency found in our study (4.9%) was slightly higher than others (,,).
The analysis of predicted phenotype distribution showed a difference in the frequency of CYP2D6*3 and CYP2D6*4 alleles between the control group and porphyric patients. When the results obtained in all porphyric patients studied were analyzed, the frequency of EM phenotype was higher (P < 0.05) than in healthy controls. When each type of porphyria was analyzed separately, only the EM phenotype in the AIP group was significantly higher than the healthy group. These results indicate that polymorphisms in porphyric patients might also have a significant influence on the individual susceptibility to foreign substances and the triggering of this disease. EM would be more exposed than EIM and PM to genotoxic porphyrinogenic xenobiotic metabolites. Several authors have presented similar results in different studies performed with lung cancer and urinary bladder cancer patients (). Agündez et al. () observed a significant correlation between EM and the risk of liver cancer development.
In this study, the CYP2D6 polymorphism was also investigated in nonporphyric individuals presenting with some hepatic alterations and high levels of iron. A higher percentage of this polymorphism was found in these subjects than in the control group. These individuals would be particularly exposed for an extended time period to the possible toxic effects of unmetabolized chemicals. These findings are in agreement with other studies that revealed an association between PM and breast cancer or leukemia ().
Gardlo et al. () analyzed the CYP1A1 and CYP1A2 polymorphism prevalence in patients with PCT and suggested that the m4 polymorphism in Caucasian PCT type II patients might contribute to a higher susceptibility to porphyrinogenic compounds. In a similar study, Christiansen et al. () reported that the A/A genotype of CYP1A2 occurred significantly more often in PCT compared with the healthy control group in a Danish population.
In this study, we observed that, in the AIP group, no presence of polymorphisms was found among the 6 symptomatic patients, although 2 men with latent AIP were heterozygous for CYP2D6*4. In patients with VP, only 1 of the 7 individuals with latent VP carried the polymorphism CYP2D6*4 in the heterozygotic state. In the symptomatic VP cohort, 3 of 8 individuals possessed a heterozygous *4 allele, only 1 of whom had undergone an acute attack, while the other 2 presented only cutaneous manifestations. One woman in this group carried both polymorphisms (*3/*4). In the PCT group, among 8 individuals with hereditary PCT, 3 were heterozygous for CYP2D6*4: 1 was latent PCT; among the 3 patients with acquired PCT, 1 was heterozygous for CYP2D6*4 and another carried the same allele in the homozygous form.
Results presented here, although preliminary, demonstrated for the first time that 13% of porphyric subjects analyzed carried the CYP2D6*4 allele and only 1% carried the CYP2D6*3 allele. However, further studies in greater cohorts should be analyzed to provide a clearer picture of the extent and correlation of mutant genotypes in porphyric patients compared with healthy controls. Also, other genotyping studies should be performed for detecting the presence of other mutant alleles in these individuals, such as CYP2D6D which, like CYP2D6*3 and CYP2D6*4, is among the most common mutations leading to PM phenotype in the Caucasian population.
The information obtained with this research would have an impact on the practice of medicine in the near future. Many authors (,,) have already determined that genotyping P450 would be a useful tool to predict the pharmacogenicity of drugs. Currently, CYP2D6 polymorphisms cause interindividual variability in drug response, influencing the treatment of several diseases (,). In the case of porphyrias, some drugs have shown conflicting evidence about their porphyrinogenicity in some individuals. Predictive genotyping for CYP2D6 in porphyric patients holds promise as a method to improve the clinical efficacy of drug therapy and to personalize drug administration for these patients.


A.M. Buzaleh, V.E. Parera, and A. Batlle hold the post of Associated, Independent and Superior Scientific Researchers at the Argentine National Research Council (CONICET). J. Lavandera is a fellow from the Argentine Scientific and Technologic Agency (ASTA). This work has been supported by grants from the CONICET, the ASTA, and the University of Buenos Aires, Argentina. We wish to acknowledge Dr. M.V. Rossetti for her counseling in the optimization of the techniques used in this work.


Online address:


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Articles from Molecular Medicine are provided here courtesy of The Feinstein Institute for Medical Research at North Shore LIJ

                                "Remember.Research is the key to your cure!"


Wednesday - November 18, 2015 @ 10:30:02


 The APF and our FDA Committee will be leading a FULL SPEED AHEAD charge to gain FDA accelerated approval of Afamelanotide/SCENESSE, the new treatment for EPP. 

This treatment was so revolutionary that some of our friends are flying to Switzerland for the treatment.  This is outrageous that our own citizens are not being given a treatment that is available to half of the world.  Instead, we must raise funds to travel to Europe for this treatment .   It is time for us to act.

The APF cannot do this without YOU, but we firmly believe with your help we will see FDA approval.  YOU will be hearing from committee members about what each of YOU can do.  

Many of YOU have sent letters to the FDA via the APF and we thank you heartily for those letters.  However, we need many, many more letters describing your personal experience and need for a treatment.   Those who were fortunate to have received the real treatment during the clinical trials should include your experience in your letter. 

YOU can also contact your legislators or better yet, the APF will address a letter to your Congressman to include with your personal letter.

We are now working full speed ahead.   Watch for the APF Advocacy committee members to answer your questions and encourage you to write your letters and contact your congressmen. 
Send your letters to:
 American Porphyria Foundation
4900 Wooodway Dr., Suite 780
Houston , TX 77056
Address your letters to
Kendall Marcus, M.D.
Food and Drug Administration
Center for Drug Evaluation and Research
Division of Dermatology and Dental Products
White Oak Campus, WO 22/Rm. 5202 
1903 New Hampshire Ave. 
Silver Spring, MD 20993

Thank you Friends, 
Desiree and APF staff.

Part 3 of &

Friday - November 13, 2015 @ 13:07:26

Part 3

So I took it the next step and contacted the company that interprets results from with a company called  For around twenty dollars they can interpret some results.  My question through email took 3 attempts with no phone number to contact them by.

My question was this:

Hello my name is Amy Chapman with the American
Porphyria foundation.  We have been asked by 23andme to ask some specific questions.  Porphyria is a group of rare metobolic disease.  The only way to get a clear diagnosis is through genetic DNA testing.  Genetic testing is very expensive and takes some time to get results.  Many of the patients have been using your services for a diagnosis and that is impossible to do first how do you explain this in particular to a diagnosis of porphyria which also depending on deficient enzyme are 8 different types.  

Since porphyria is rare how do you say that you can diagnose these ppl many have been to world porphyria experts spent 30 plus yrs in porphyria relations in genetics many have been tested and do not meet the criteria set by FDA standards and then they come to you and say they have it only to believe they do and the medications used and cost can be considered close to high drug costs 30 k or more for a daily dose but they have been told they do not have the disease by genetic experts.  So please explain what you do how you do and can you actually diagnosis such a rare disease called porphyria?? Please respond urgently
Amy Chapman

 Hello Amy,

Thank you for contacting us. We received all 3 of your emails: 
Livewello does not diagnose any health condition whatsoever, and certainly not Porphyria.
Please visit our user-community contributed Gene Library to learn how it works-- Be sure to read the Disclaimers. 
Finally, we only provide Customer Support via the "Help" button at
Thank you

So & Livewello again for emphasis DOES NOT DIAGNOSE ANY OF THE PORPHYRIA DISEASE.  

This is very important we ask that you read the information on Expert Porphyria testing below:

We are always most happy to help find you an expert or knowledable Dr to test, diagnose and treat for your specific type of Porphyria.  Please contact us at 1-866-APF-3635

Diagnostic Testing for the Acute Porphyrias - Clarification of Testing Results

It has come to our attention that some patients who have been diagnosed clinically as having Acute Intermittent Porphyria (AIP) or another acute hepatic porphyria could not be confirmed by either biochemical or DNA testing. Biochemical testing is the demonstration of increased urinary ALA and PBG, and these values are highest during an acute attack when patients are symptomatic. Some patients can have high levels in between attacks as well, but not all. Positive diagnostic values should be increased greater than 5 times normal, not just a slight increase (less than 3 times normal) which can occur with dehydration. Most commercial laboratories and in particular the Porphyria Lab at the University of Texas Medical in Galveston which is run by Dr. Karl Anderson, will perform these tests properly. It is important that the doctor order urinary ALA and PBG and not a "porphyrin profile."
DNA, or molecular genetic testing, for the acute porphyrias is performed by sequencing the causative gene for the three major acute porphyrias and finding a specific pathogenic lesion on the gene, called a mutation. The technique used for DNA testing is at least 98% accurate, and patients with significantly elevated PBG are most often found to have a specific mutation.  In our experience of testing over 1000 patients with or without elevated urinary PBG, only a few cases did not have a specific mutation.   For these patients, we undertake special testing to look for gene deletions or other aberrations that would be responsible for a cryptic mutation.
During the last few years, our experience with DNA testing for the acute hepatic porphyrias has revealed certain mutations which are not pathogenic but are relatively frequent in normal individuals who do not have any acute hepatic porphyric symptoms. These are called polymorphisms and they are benign. When we recognize patients who have such polymorphisms, we continue to look further at their DNA to see if we can find a pathogenic mutation in addition. If no pathogenic mutation is found, we would have to classified or reclassify these patients as not affected. As you may be aware this has created great concern for patients who respond well to acute porphyria treatment that their treatment would be discontinued. We appreciate this concern and would like to have such patients physicians contact us so that we can discuss their situation, recommend additional testing to determine if their symptoms may have been misdiagnosed and institute appropriate treatment. 

Diagnosing Acute Porphyria
The acute porphyrias include Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and d-Aminolevulinic Acid Dehydratase Porphyria (ADP).
AIP is the most common of the acute porphyrias.
The most common symptoms are acute attacks of severe abdominal pain, back pain, pain in the arms and legs, nausea, vomiting, rapid heartbeat and other symptoms. These attacks generally last for several days, and can be sporadic or happen frequently (~once/month). These acute attacks are very rare in children before puberty.   These acute attacks are very rare in children before puberty. Attacks are often provoked by certain drugs, alcohol, hormones, infections, and perhaps stress. HCP and especially VP may cause blistering skin photosensitivity as well as acute attacks; AIP has no skin involvement, it is characterized just by these acute attacks.  
A diagnosis of one of the acute porphyrias is made in two ways:
  1. By biochemical testing:
    1. For AIP- a urine porphobilinogen (PBG) test during an acute attackthe urine PBG level will be very high if the symptoms are caused by an acute porphyria (greater than 5 times the normal value)
    2. For HCP and VP- a urine porphobilinogen (PBG) test during an acute attack if the patient has acute symptoms, or plasma porphyrins if the patient has skin symptoms
  2. By genetic testing looking at the genes known to cause the acute porphyrias
There are many misconceptions about the urine PBG testing, its reliability, and urine color of patients with acute porphyria. The urine sample for PBG testing needs to be protected from light; the sample should be wrapped in tin foil or placed in a brown opaque bag after collection. However, if the sample is exposed to light for a little while (a few minutes) this will not affect the results. Please follow the directions provided by the laboratory when doing this testing.
Urine PBG testing can be sent to many labs including Quest, LabCorp, Mayo, ARUP, UTMB and Mount Sinai; they all do this testing reliably.
Many patients have urine that is red/purple in color when they have an acute attack, but this is not always the case. Patients can still have elevated urine PBG levels even if their urine color is normal. These misconceptions may lead to improper testing, or misdiagnoses. Physicians who suspect a patient has an acute porphyria should call one of the expert Porphyria centers in the US to consult (

The Difference between Active and Latent Acute Porphyria
It is important to know that ~80% of people who have changes in their porphyria genes (called mutations) never have symptoms of the acute porphyrias. These people are said to have latent acute porphyria.
If someone has a mutation in an acute porphyria gene and reports symptoms similar to an acute attack, their urine PBG level should be checked. If the urine PBG level is normal then there is likely another cause to this persons symptoms. Acute attacks are distinguished from other conditions that cause abdominal pain by very high PBG levels.

Treatment of Acute Porphyria
For patients with confirmed diagnoses, during acute attacks Panhematin infusions are administered as treatment and the pain is managed with various other medications. For more information on Panhematin please visit:
If someone who does not have a confirmed diagnosis of acute porphyria, documented by very high PBG levels, is having symptoms that seem consistent with an acute porphyria attack Panhematin is administered at the discretion of the treating physician. Generally all other causes of abdominal pain which are much more common than acute porphyria are ruled-out first. If Panhematin is administered and subsequently the diagnosis of acute porphyria cannot be confirmed by elevated urine PBG values or DNA testing, then it would be concluded that the attack is not caused by an acute porphyria. Even after Panhematin treatment, or after an acute attack has passed, the urine PBG levels should still be elevated for several days to a week. These levels may not be as high as they were during the acute attack, but will still be elevated.

                          "Remember.Research is the key to your cure!"

23andme Part 2 Interview with Claire

Thursday - November 12, 2015 @ 10:30:03

Please note that we encourage you to consult with your Physician with any questions.  If you are looking to get tested for Porphyria we have labs in the US that would be able to help you get a proper diagnosis.  For the nearest Porphyria Lab please call 1-866-APF-3635

Part 2 Interview with 23andme Rep:

Information from Porphyria Expert Dr Desnick:
DNA Diagnosis of Porphyria- Important Clarifications  
by:  Robert Desnick, M.D., PhD. 

 It has come to our attention that some Porphyria patients have sent their DNA to 23andMe or to other commercial companies, and have gotten results suggesting that they have DNA confirmed Porphyria. We are concerned that results from companies other than DNA testing laboratories that have experience in diagnosing porphyrias may provide patients with misleading information.

A major issue with DNA testing is whether a gene alteration (variant or mutation) is pathogenic (disease-causing) or benign (a change in the gene that does not cause or make one at-risk for the disease). For example, 23andMe does NOT do gene sequencing, but does determine if you have various gene alterations in the porphyria genes, all 57 of which are benign, and are not disease-causing but occur in a particular gene in which other lesions are in fact disease-causing. The benign lesions usually are identified by an #rs number. These benign changes are quite common but may lead a patient to believe that he/she has one or more porphyrias. They do not affect the heme biosynthetic enzymes, as they are not pathologic lesions. Of the gene lesions that cause disease, over 98% would be identified by gene sequencing as is done for all the Porphyrias at the Mount Sinai Laboratory and four Porphyrias at the Mayo Laboratory.

The Mount Sinai Genetic Testing Laboratory provides Porphyria DNA testing for all eight Porphyrias, and has a full-time Porphyria Genetic Counselor, Dana Doheny, MS, who is available to assist in arranging testing and interpreting the results. Typical time from receipt of sample to result is about two weeks. If the patient has biochemical-positive results and a DNA alteration cannot be found, there is a 1-2% chance that the patient has a cryptic mutation or a large deletion in the porphyria gene that is difficult to find by sequcning. The Mount Sinai Laboratory will do additional analyses to find the Porphyria gene lesion, if the patient has one. 

Mayo Laboratories test for only three of the four Acute Porphyrias and for Erythropoietic Protoporphyria. To our knowledge they provide sequence results, and do not report polymorphisms..

Desiree notes: Dr Desnick is one of the most famous genetisists in the world.  In fact, he is one of  only three board certified in the US.  See what he has to say about 23 and me. etc.

I emailed and did an interview with Claire @ 23andme

First question: Amy Apf, Oct 13, 9:15 AM:
Question can you diagnose diseases such as Porphyria Disease which is very rare and done by genetic testing only. I would like a response to this as this has caused much confusion. DNA and RNA testing for Porphyria research can only be done through a few places in the world. Do you have a solid explanation for this. Many people are sending their kits in to you saying yes they have this deadly disease but when tested properly with Labs such as blood, urine and feces through DNA they do not have it and thus have there diagnosis taken away or worse cant receive the needed medication because Porphyria disease is a registered Orphan Rare disease. PLEASE EXPLAIN
Diagnostic Testing for the Acute Porphyrias.docx
You can update your support request by replying to this email with additional comments or by following this

Answer: Clare, Oct 13, 1:26 PM:


Thank you for contacting the 23andMe Team. No, 23andMe is not and has never been a diagnostic service.23andMe Services are for research, informational, and educational use only. We do not provide medical advice and the service has not been approved by the FDA for diagnostic testing.

Additionally, 23andMe does not provide health reports to customers who have purchased on or after November 22, 2013. Per an ongoing regulatory review with the FDA, new customers receive uninterpreted raw genetic data, as well as ancestry information.

Even when health information was available, porphyria was not a topic addressed by our health reports.

Please let us know if you have any additional questions.

Best Regards,


The 23andMe Team

Statement to Claire:  I must say that thousands are flocking to your website for all sorts of disease both common and rare to receive all their medical input as you are the bible for diagnosing ppl.  Do you know that this is happening and telling a few thousand people and others with a rare disease that for a few hundred bucks all there questions r solved they bring this info to there Drs and dr say sure you have it and if they were to get true genetic testing which is very expensive 4-8 k out of pocket no ins pays for this and must wait months 12 plus weeks for a true diagnoses.  Then when they get 23 and me testing done they are entitled to costly medications and if diagnosed or implied a diagnose it could cost them their life.  our medications r like chemo pricing hundreds of thousands of dollars an orphan drug approved by FDA I think there should be a big disclaimer and a clearer picture of what your services provide this is serious you don't even know.  How do you fix this I would like the head person to email me his plans to help clarify your services and products what it does not due!  Please explain my dilemma

Answer from Claire:  We have had many other instances and we need an explanation or statement  Please look at what an Expert Dr of Porphyria @ MT Sinani NY has said regarding testing and here is an example of what patients are telling people to do does this seem right to you.  We would like Andew Page to respond or someone in Corporate this is outrageous. 

DNA Diagnosis of Porphyria- Important Clarifications  
by:  Robert Desnick, M.D., PhD. 

 It has come to our attention that some Porphyria patients have sent their DNA to 23andMe or to other commercial companies, and have gotten results suggesting that they have DNA confirmed Porphyria. We are concerned that results from companies other than DNA testing laboratories that have experience in diagnosing porphyrias may provide patients with misleading information.

A major issue with DNA testing is whether a gene alteration (variant or mutation) is pathogenic (disease-causing) or benign (a change in the gene that does not cause or make one at-risk for the disease). For example, 23andMe does NOT do gene sequencing, but does determine if you have various gene alterations in the porphyria genes, all 57 of which are benign, and are not disease-causing but occur in a particular gene in which other lesions are in fact disease-causing. The benign lesions usually are identified by an #rs number. These benign changes are quite common but may lead a patient to believe that he/she has one or more porphyrias. They do not affect the heme biosynthetic enzymes, as they are not pathologic lesions. Of the gene lesions that cause disease, over 98% would be identified by gene sequencing as is done for all the Porphyrias at the Mount Sinai Laboratory and four Porphyrias at the Mayo Laboratory.

The Mount Sinai Genetic Testing Laboratory provides Porphyria DNA testing for all eight Porphyrias, and has a full-time Porphyria Genetic Counselor, Dana Doheny, MS, who is available to assist in arranging testing and interpreting the results. Typical time from receipt of sample to result is about two weeks. If the patient has biochemical-positive results and a DNA alteration cannot be found, there is a 1-2% chance that the patient has a cryptic mutation or a large deletion in the porphyria gene that is difficult to find by sequcning. The Mount Sinai Laboratory will do additional analyses to find the Porphyria gene lesion, if the patient has one. 

Mayo Laboratories test for only three of the four Acute Porphyrias and for Erythropoietic Protoporphyria. To our knowledge they provide sequence results, and do not report polymorphisms..

Desiree notes: Dr Desnick is one of the most famous genetisists in the world.  In fact, he is one of  only three board certified in the US.  See what he has to say about 23 and me. etc.
Please note a mutual client has suggested:

Member of Porphyria Statement:  "Do yourself the biggest favor and bypass all labs and go directly online to and get your DNA done.  then take the raw data to to interpert the raw data into understandable reports.  Best thing that I ever did. In 19__ the lab tests only showed that I had porphyria not what kind.  The genetic test revealed that I have 2 kinds HCP and EPP.  No percription needed, private and all for under 200.00"

APF:  While anything is possible having one types of porphyria is vary rare in itself so to say two types a one that is acute and one that cuteanous.  We have Porphyria centers around the world and encourage all persons to locate the nearest porphyria center in the country you live in to get genetic testing done.  DNA testing does average 8 weeks or more but then you will have the answers from DNA testing.  1-866-APF-3635

Not only this is horrible advice to give from patient to patient but the fact that she said she was told to do this by your company or not this is true please clarify this is a rare orphan disease DNA is the way to diagnose the only way so anything your company can help us to distinguish would be so helpful not to tear away from sales profits or helping people but they must be a way to explain it better.

Amy Apf, Nov 9, 11:58 AM:
We have had many other instances and we need an explanation or statement Please look at what an Expert Dr of Porphyria @ MT Sinani NY has said regarding testing and here is an example of what patients are telling people to do does this seem right to you. We would like Andew Page to respond or someone in Corporate this is outrageous.

Clare, Nov 11, 11:31 AM:
Hi Amy,
Thank you for bringing this to our attention. The 23andMe Personal Genome Service should not be used as a substitute for a physician's advice. We take measures to make this clear to our customers.

The 23andMe Personal Genome Service has never had a health report on Porphyria. We do provide customers with access to their raw data, however, we note the statement at the top of our "Browse Raw Data" page has key limitations with regard to the data, including the following: "This data has undergone a general quality review however only a subset of markers have been individually validated for accuracy. As such, the data from 23andMe's Browse Raw Data feature is suitable only for research, educational, and informational use and not for medical or other use."

We also direct your attention to Section 5 of our Terms of Service: Risks and Considerations
Regarding 23andMeServices, which reads "The Genetic Information provided by 23andMe is for research, informational, and educational use onlyThe Services are not intended to be used by the customer for any diagnostic purpose and are not a substitute for professional medical advice. You should always seek the advice of your physician or other health care provider with any questions you may have regarding diagnosis, cure, treatment, mitigation, or prevention of any disease or other medical condition or impairment or the status of your health." The Terms of Service document is presented during registration and must be agreed to prior to customers receiving their reports or other personalized information through our service. A link to our Terms of Service also can be found at the bottom of each page on our website, and is provided here for your reference:
Please let us know if you have any further questions.

Best regards,
The 23andMe Team

So according to Claire @ they DO NOT diagnosis Porphyria Disease.  Thus they ask you to refer you to your Doctor, if your Dr needs care on how to test, diagnosis or treat a patient with any of the porphyria's the APF has a wonderful database of Doctors that can help.  Please call for a free patient packet or have a Dr Kit sent to your Physician by calling 1-866-APF-3635

                         "Remember.Research is the key to your cure!"

                          "Remember.Research is the key to your cure!"

23and me. What is this all about? What can it do and what it Cannot do

Wednesday - November 11, 2015 @ 15:16:50

The 23andMe Difference.

Receive an overview of your DNA your 23 pairs of chromosomes 

through detailed reports, tools and more.

What does this do for you?  
1.  Carrier Status reports
If you are starting a family, find out if you are a carrier for an inherited condition.
2 .Ancestry reports Your DNA can tell you about your family history.3. Wellness reportsYour genetics can help you make more informed choices about your diet and exercise4. Traits reports Explore what makes you unique, from food preferences to physical features.

A new way to see yourself.

Genotyping is a great way to start understanding how your genetics can impact your life. It's a new filter. More knowledge to understand what makes you, you.
The world of genetics changes everyday and we are committed to keeping you informed and knowledgeable so you can continue your genetic journey throughout your life.
**Presently they can tell you the following** 

Carrier Status reports*

35+ reports

Being a "carrier" means you "carry" one genetic variant for a condition. Carriers do not typically have the genetic condition, but they can pass a genetic variant down to their children. If both parents are carriers, there is a 25% chance their child will have the condition.
Understanding your carrier status helps you work with your doctor to prepare for the health of your future family

All carrier status reports


ARSACSSACS1 VariantFrench Canadian
Agenesis of the Corpus Callosum with Peripheral NeuropathySLC12A61 VariantFrench Canadian
Autosomal Recessive Polycystic Kidney DiseasePKHD13 VariantsN/A
Beta Thalassemia and Related HemoglobinopathiesHBB10 VariantsCypriot, Greek, Italian, Sardinian
Bloom SyndromeBLM1 VariantAshkenazi Jewish
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)PMM22 VariantsDanish
Cystic FibrosisCFTR28 VariantsEuropean, Hispanic/Latino, Ashkenazi Jewish
D-Bifunctional Protein DeficiencyHSD17B42 VariantsN/A
Dihydrolipoamide Dehydrogenase DeficiencyDLD1 VariantAshkenazi Jewish
Familial DysautonomiaIKBKAP1 VariantAshkenazi Jewish
Fanconi Anemia Group CFANCC3 VariantsAshkenazi Jewish
GRACILE SyndromeBCS1L1 VariantFinnish
Glycogen Storage Disease Type IaG6PC1 VariantAshkenazi Jewish
Glycogen Storage Disease Type IbSLC37A42 VariantsN/A
Hereditary Fructose IntoleranceALDOB3 VariantsEuropean
Leigh Syndrome, French Canadian TypeLRPPRC1 VariantFrench Canadian
Limb-Girdle Muscular Dystrophy Type 2DSGCA1 VariantFinnish
Limb-Girdle Muscular Dystrophy Type 2ESGCB1 VariantSouthern Indiana Amish
Limb-Girdle Muscular Dystrophy Type 2IFKRP1 VariantEuropean
MCAD DeficiencyACADM3 VariantsNorthern European
Maple Syrup Urine Disease Type 1BBCKDHB2 VariantsAshkenazi Jewish
Neuronal Ceroid Lipofuscinosis (CLN5-Related)CLN51 VariantFinnish
Neuronal Ceroid Lipofuscinosis (PPT1-Related)PPT13 VariantsFinnish
Niemann-Pick Disease Type ASMPD13 VariantsAshkenazi Jewish
Nijmegen Breakage SyndromeNBN1 VariantEastern European
Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)GJB22 VariantsAshkenazi Jewish, European
Pendred Syndrome and DFNB4 Hearing LossSLC26A46 VariantsN/A
Primary Hyperoxaluria Type 2GRHPR1 VariantEuropean
Rhizomelic Chondrodysplasia Punctata Type 1PEX71 VariantN/A
Sickle Cell AnemiaHBB1 VariantAfrican
Sjögren-Larsson SyndromeALDH3A21 VariantSwedish
Tay-Sachs DiseaseHEXA4 VariantsAshkenazi Jewish, Cajun
Tyrosinemia Type IFAH4 VariantsFrench Canadian, Finnish
Usher Syndrome Type 1FPCDH151 VariantAshkenazi Jewish
Usher Syndrome Type 3ACLRN11 VariantAshkenazi Jewish
Zellweger Syndrome Spectrum (PEX1-Related)PEX11 VariantN/A
Our tests can be used to determine carrier status in adults, but cannot determine if you have two copies of the genetic variants. The tests are not intended to diagnose a disease, or tell you anything about your risk for developing a disease in the future. On their own, carrier status tests are not intended to tell you anything about the health of your fetus, or your newborn childs risk of developing a particular disease later in life.
This is PART 1 In two days look for the interview from 23and me with APF
 "Remember.Research is the key to your cure!"

The Genetic Science Learning Center

Monday - November 9, 2015 @ 15:01:12

The Genetic Science Learning Center

We invite you to check out the learning resources about the genetic science.
The Genetic Science Learning Center at The University of Utah is a nationally and internationally-recognized education program that translates science and health for non-experts. In addition to genetics, we address all areas of life science and health as well as other scientific fields.

The GSLC's websites are one of the most used science sites on the Internet. In 2013, they received almost 20 million visits, which came from virtually every country in the world.

                       "Remember.Research is the key to your cure!"

Finding A Doctor

Wednesday - November 4, 2015 @ 15:46:18

Finding a Doctor

The American Porphyria Foundation promotes comprehensive care necessary for treating individuals with Porphyria.  This section of our website offers suggestions for finding a local doctor who can manage your Porphyria, options for having your doctor consult a Porphyria specialist, and information on arranging a visit to a Porphyria clinic.
Because Porphyria is so rare, few physicians have experience treating patients with the disease.  Most patients are in fact treated But the APF can help by putting your doctor's office in touch with a Porphyria specialist who can offer guidance on your care.
For those who need a diagnosis, you may be able to obtain a consultation at Porphyria clinic. Call the APF to reach a porphyria expert at a porphyria center.  The APF office will also guide you to doctors who are not experts but are knowledgeable about porphyria. You may be asked to send your blood, urine, and stool samples for evaluation in advance of a clinic appointment.  Especially if you plan to travel for a consultation, it is a good idea to call ahead and explain that you would like to be evaluated for Porphyria so that you can be sure you have done any necessary testing in advance.  If local video conferencing facilities are available, telemedicine consultation with a Porphyria expert is also available.
Regardless of your situation, it is best to establish a good relationship with a doctor in your area.  Developing a relationship with a primary care physician takes time and can be frustrating, particularly when you have difficulty finding a doctor who will manage your care.  In this section of the website, you will also find Tips for the Doctor's Office that may help.
If you're having trouble finding a local doctor, the following organizations' doctor finder or physician referral services could be helpful.  The APF does not recommend or endorse the doctors listed through these sites.
If you would like to read about supporting programs to ensure the quality of specialists in the field of porphyria, please see our Protect Our Future campaign information.

Tips for the doctor's office

Make Lists
You may not always need to share all of your information with every doctor you see but the following items are particularly important:
A list of all of your medications and needed refills, a summary of your medical history, a list of your recent tests, a list of your questions, concerns and new information, forms your doctor needs to address,
Plan Ahead For Your Doctor Visit
Prepare your questions and a list of your symptoms,  ( For example, racing heart, blisters, etc) Be concise. When you schedule your appointment, ask if you should have test results or other medical records sent to the doctors office before your visit. Nothing is worse than rescheduling for new tests you could have taken earlier or not had with you.
At Your Visit
Be on time.  Give and expect respect. Bring your lists and tell the doctor what you want to discuss and your goals for the visit. Be as brief as possible.  Communication is an especially important skill.  Make every word count because the doctor may only have 15 minutes to spend with you.
Be sure you understand what the doctor is advising you.  If not, ask questions until you understand.  If there is not enough time for all of your questions: Ask for handouts and brochures that will give you more information or schedule another visit.
You and your doctor may have different goals for the visit. For example, your doctor may want to just check your blood pressure, while you may have worries about possible surgery.
Many things can get in the way of helpful communication; emotions, communication style, different goals and lack of time all work against us. When emotions are high, logic is low. If you find that your emotions are interfering with your visit, explain this to your   doctor. Try taking a moment to reflect on what you want to say and try again.
Lastly, you may feel that you know more about certain aspects of porphyria than your physician.  Major medical journal articles are usually best accepted than internet articles. 
After the Visit
Often patients have questions they forgot to ask.  If it is urgent, call the office right away. Otherwise, check the educational materials to see if the question can be answered there.
If you still dont have the answer, call your doctor.  However, it is best to have the question clearly written.  Be aware that the doctor may not be able to answer your call until the end of the day, but a nurse or physicians assistant may be able to help earlier.

                   "Remember.Research is the key to your cure!"

Research News

Monday - November 2, 2015 @ 15:08:30

Research News
We would like to let you know that the two satellite clinics in Seattle, WA and Miami, FL are now accepting Longitudinal Study patients for research. Another research center in Cleveland, OH will be ready to accept patients soon.  
There are very important research studies ongoing right now that need research volunteers. 
  • Everyone can participate in the Longitudinal Study. All you need to do is fill out questionnaires that reveal important facts about porphyria if enough people enter the study. 
  • Volunteers are needed for the Natural History part of the Alnylam Study to show the potential of their drug to prevent attacks.   Fly down and back to the research centers with all expenses paid for you.
  • Research volunteers are also needed for the Panhematin study to verify that Panhematin can be used to prevent attacks.  Although patients have been given the drug for a long time to prevent attacks, this study will give doctors the better evidence.
  • It is important to join the registry (, so that your name will go directly to the researchers. If you need help with the registry, just call the APF and Natalia or Jessica will help you.  For details on how you can participate, call the APF at713.266.9617.

"Remember.Research is the key to your cure!"

Please Join, Get Involved, Volunteer for Research: Join the Registry

Friday - October 30, 2015 @ 12:26:54

Please Join, Get Involved, Volunteer for Research:
Join the Registry


To join the Contact Registry, click here to open a page that lists all of the rare disease consortia. Scroll down the page until you come to the Porphyria Consortium and click on your type of porphyria. You will then be asked to complete a simple form including information about the date of your diagnosis, if you know it. If you have copies of your initial diagnostic lab results, you may want to have them handy when you go to the registry website.

Porphyria experts have created this National Porphyria Registrya type of partnership between doctors and patients as a way for those with porphyria to share information about their health and treatment so physicians can learn from their experience and use that knowledge to enhance diagnosis, treatment and eventually find a cure for porphyria.

It is the best means to prove that there are enough porphyria patients who want improved health care. If we don't speak up, we will be left behind when research funding is given. We DO NOT HAVE ENOUGH PEOPLE ON THE REGISTRY. Please join the registry.

Joining the Porphyria Registry is anonymous and free of charge. All data will be stored in a secure, computerized database. No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.


The registry is not linked to APF membership, but we hope you will join the American Porphyria Foundation too! So please consider joining the Contact Registry, and thank you for continuing to be a member of the APF.

Doctors who study rare diseases see a relatively small number of sufferers over many years of practice. This Registry will give a big boost to medical and scientific understanding of porphyria by bringing together information from patients all over the country.

If you need help enrolling in the registry contact our office toll free at 1-866-APF-3635.

                                 "Remember.Research is the key to your cure!"


Thursday - October 29, 2015 @ 17:51:28

           Please don't forget to fall back this weekend!

DNA Diagnosis of Porphyria- Important Clarifications by: Robert Desnick, M.D., PhD

Monday - October 26, 2015 @ 10:30:02

DNA Diagnosis of Porphyria- Important Clarifications  
by:  Robert Desnick, M.D., PhD. 

 It has come to our attention that some Porphyria patients have sent their DNA to 23andMe or to other commercial companies, and have gotten results suggesting that they have DNA confirmed Porphyria. We are concerned that results from companies other than DNA testing laboratories that have experience in diagnosing porphyrias may provide patients with misleading information.

A major issue with DNA testing is whether a gene alteration (variant or mutation) is pathogenic (disease-causing) or benign (a change in the gene that does not cause or make one at-risk for the disease). For example, 23andMe does NOT do gene sequencing, but does determine if you have various gene alterations in the porphyria genes, all 57 of which are benign, and are not disease-causing but occur in a particular gene in which other lesions are in fact disease-causing. The benign lesions usually are identified by an #rs number. These benign changes are quite common but may lead a patient to believe that he/she has one or more porphyrias. They do not affect the heme biosynthetic enzymes, as they are not pathologic lesions. Of the gene lesions that cause disease, over 98% would be identified by gene sequencing as is done for all the Porphyrias at the Mount Sinai Laboratory and four Porphyrias at the Mayo Laboratory.

The Mount Sinai Genetic Testing Laboratory provides Porphyria DNA testing for all eight Porphyrias, and has a full-time Porphyria Genetic Counselor, Dana Doheny, MS, who is available to assist in arranging testing and interpreting the results. Typical time from receipt of sample to result is about two weeks. If the patient has biochemical-positive results and a DNA alteration cannot be found, there is a 1-2% chance that the patient has a cryptic mutation or a large deletion in the porphyria gene that is difficult to find by sequcning. The Mount Sinai Laboratory will do additional analyses to find the Porphyria gene lesion, if the patient has one. 

Mayo Laboratories test for only three of the four Acute Porphyrias and for Erythropoietic Protoporphyria. To our knowledge they provide sequence results, and do not report polymorphisms..

Desiree notes: Dr Desnick is one of the most famous genetisists in the world.  In fact, he is one of  only three board certified in the US.  See what he has to say about 23 and me. etc.

A Microbiologist Recreated 'Starry Night' With Bacteria In A Petri Dish And it's not too shabby.

Thursday - October 22, 2015 @ 18:10:00

A Poem of Encouragement

Tuesday - October 20, 2015 @ 18:06:28

Frequently asked questions about Porphyria!

Wednesday - October 14, 2015 @ 13:40:48

Frequently Asked Questions

General Questions:

How does one get porphyria?
Most porphyrias are inherited.  However, one type, Porphyria Cutanea Tarda (PCT), may either be inherited (also referred to as familial) or sporadic due to various environmental factors.  In each type of porphyria there is a deficiency of a specific enzyme.  These enzymes are involved in the synthesis of heme, a substance important to many body functions and are found in large amounts in bone marrow and red blood cells (which contain hemoglobin), and also has an important function in the liver and muscles. The type of porphyria present is determined by which enzyme is deficient; these enzyme deficiencies are usually inherited. Environmental factors, such as drugs, chemicals, diet, and sun exposure can, depending on the type of porphyria, greatly influence the severity of symptoms.
How are the porphyrias inherited?  Can my children inherit porphyria from me?
The inherited porphyrias are either autosomal dominant (inherited from one parent), autosomal recessive (inherited from both parents), or X-linked (the gene is located on the X-chromosome).  Autosomal genes always occur in pairs, with one inherited from each parent.  Individuals with an autosomal dominant form of porphyria have one non-working gene paired with a working (or normal) gene.  Each of their children has a 50% chance of inheriting the non-working gene.  Some of those who inherit the non-working gene will develop symptoms.  Individuals with an autosomal recessive type of porphyria have a pair of non-working genes, and each of their children will inherit one non-working gene for that porphyria which will be paired with the working gene of their partner. Such individuals are referred to as carriers and will not have any symptoms.  If two carriers of the same autosomal recessive porphyria have children, each child will have a 25% of inheriting a non-working gene from each carrier parent, and having the disorder.  Because all porphyrias are uncommon, it is very unlikely that more than one type of porphyria will occur in the same family, or that a person with one type of porphyria will go on to develop another type.  However, patients with more than one type of porphyria have been reported.
How are the porphyrias classified?
The best way to classify a case of porphyria is to determine which enzyme is deficient, or not functioning properly.  Normally these enzymes act in a sequence to make heme from simpler molecules.  Heme is a vital substance for all body organs and consists of an iron atom surrounded by a porphyrin molecule. If a specific enzyme is not made properly or there is not enough of the enzyme, it cannot function properly and that step in the heme-making process cannot proceed.
Sometimes other classifications are useful.  Most commonly the porphyrias are divided into the acute and cutaneous porphyrias, depending on the primary symptoms.  The acute porphyrias [Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and ALA-dehydratase Deficiency Porphyria (ALD)] present with sudden attacks of severe stomach pain that last for several days; VP and HCP may also have skin symptoms.  The cutaneous porphyrias present with blistering and scarring of the skin, pain, and/or redness and swelling in sun-exposed areas.  The porphyrias may also be classified as hepatic or erythropoietic, depending on the organ where the porphyrins accumulate, the liver for the hepatic porphyrias [AIP, HCP, VP, Porphyria Cutanea Tarda (PCT), and Hepatoerythropoietic Porphyria (HEP)] or the bone marrow for the erythropoietic porphyrias [Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-Linked Protoporphyria (XLP)].
What treatment and prevention are available?
To date, there is no cure for any of the porphyrias. Treatment and prevention depends on the type of porphyria. Preventive measures, which include avoidance of certain drugs and alcohol, as in the hepatic porphyrias, and sun exposure, as in the erythropoietic porphyrias, are also important in those individuals who are identified as having inherited porphyria, even if they have never had symptoms. 
For the acute porphyrias, hospitalization is often necessary for acute attacks. Medications for pain, nausea and vomiting, and close observation are generally required with monitoring of salt and water balance. Harmful drugs should be stopped.  Attacks are treated with either glucose loading or intravenous administration of hemin (Panhematin).  Attacks can be prevented in many cases by avoiding harmful drugs and adverse dietary practices. 
PCT, both familial and sporadic, can be treated with regularly scheduled phlebotomies (removal of blood) to lower the amount of in the liver or a low dose regimen of hydroxychloroquine as well as removal of factors (for example, certain medications) that activated the disease.
Treatment of the cutaneous porphyrias is dependant on the specific porphyria.  For CEP, blood transfusions to correct anemia, splenectomy (removal of the spleen) are often needed treatments.  Bone marrow transplant (BMT) has also been done in severe cases with good results.  For EPP, treatment with pharmaceutical grade β-carotene (Lumitene, Tishcon) or cysteine may improve sunlight tolerance.  Avoidance of sunlight (and fluorescent lights for CEP) is recommended for all individuals with a cutaneous porphyria as well as those diagnosed with HCP or VP who have porphyria-related sun sensitivity.
Is porphyria progressive or lethal?
Unlike some genetic disorders in which all individuals who inherit a gene mutation become ill,the severity of porphyria varies considerably.  Such variability is due to certain additional factors other than the gene itself. Consequently, risks of severe medical difficulties or even death in the acute porphyrias are often diminished when affected individuals are well informed of their diagnosis and adopt suggested precautionary measures.  Even with modern treatment and prevention, some patients still have repeated attacks.  However, progressive deterioration and death from paralysis in the acute porphyrias are very unusual.
Should doctors be informed that an individual has porphyria, even if it is latent?
Yes!  The diagnosis of porphyria is always an important item of medical information, even when there are no symptoms.  It may, for example, influence the choice of drugs to treat other conditions, the choice of anesthesia for surgery, or dietary recommendations.
What diagnostic tests are available? 
There are many laboratory tests available for the porphyrias, and it is often difficult to decide which should be chosen.  Many of these tests are expensive.  The results are often difficult to interpret.  The tests vary in sensitivity and specificity.  If a test is sensitive, it is unlikely to be falsely negative (that is, fail to diagnose porphyria in a patient who has the disorder).  If a test is specific, it is unlikely to be falsely positive (that is, diagnose porphyria in a patient who does not have the disorder).  Certain tests are both sensitive and specific in patients who have symptoms that are suggestive of a porphyria.  It is advisable to have the testing performed by a laboratory that has expertise in the clinical aspects of porphyria and can provide a valid interpretation of the test results.  If testing has been performed in laboratories other than porphyria laboratories, consultation with a porphyria expert is advised before a final diagnosis is made.
When abdominal and neurological symptoms suggest an acute porphyria, the best screening tests are urinary aminolevulinic acid (ALA) and porphobilinogen (PBG).  When there are cutaneous symptoms that suggest porphyria, the best screening test is a plasma porphyrin assay.  If one of these screening tests is abnormal, more extensive testing, including urinary, fecal, and red blood cell porphyrins, are often indicated.  Urinary, fecal, and red blood cell porphyrin measurements are not very useful for initial screening because they lack either sensitivity or specificity and, therefore, are often difficult to interpret.  Measurement of heme biosynthetic enzymes in red blood cells or lymphocytes is not appropriate for screening unless it is part of a family study that is done after someone in the family is already known to have a specific enzyme deficiency.
DNA testing to identify the specific mutation in an individuals porphyria-causing gene may be indicated to confirm the diagnosis of a specific porphyria.  Before requesting DNA testing, it is recommended that patients have biochemical testing (urinary, stool and/or plasma porphyrins and porphyrin precursors (ALA and PBG) and/or enzyme assays). However, many patients have not had an acute attack or are not symptomatic at present, so biochemical testing may be inconclusive.
In contrast, DNA testing is the most accurate and reliable method for determining if a person has a specific porphyria and is considered the "gold standard" for the diagnosis of genetic disorders. If a mutation (or change) in the DNA sequence is found in a specific Porphyria-causing gene, the diagnosis of that Porphyria is confirmed. DNA analysis will detect more than 97% of known disease-causing mutations. DNA testing can be performed whether the patient is symptomatic or not. Once a mutation has been identified, DNA analysis can then be performed on other family members to determine if they have inherited that Porphyria, thus allowing identification of individuals who can be counseled about appropriate management in order to avoid or minimize disease complications.
What is latent porphyria?  If my doctor told me that I have latent porphyria, does this mean that I will never have any symptoms?
Individuals with a disease-causing mutation without symptoms have "latent" porphyria. However, this does not mean that such an individual will never have symptoms. Genetic factors (that is, the presence of a porphyria-causing gene mutation is not the only factor involved. Exposure to certain environmental factors, such as drugs, chemicals, diet, and sun exposure can, depending on the type of porphyria, greatly influence whether an individual with a mutation in a porphyria-causing gene has symptoms and the severity of symptoms. There may also be additional factors, including additional genes, that may modify the symptoms. This is why it is important that all family members of individuals diagnosed with porphyria be tested whether they have symptoms or not, and that all individuals who have a confirmed diagnosis of porphyria be educated about and follow the recommended precautionary and preventive measures for porphyria.
Where can I find a porphyria expert?  What other type of doctor can diagnose me properly and what type of specialist should I see if I have porphyria.  
There are several Porphyria experts in the US and outside the US, including the Porphyria Centers in this Consortium. Information about other experts can be obtained by contacting the American Porphyria Foundation ( or one of the Porphyrias Consortium members.  If a porphyria is suspected, any physician can order the appropriate tests.  Since interpretation of these results may be difficult, it is best for the physician or healthcare professional to consult with a porphyria expert for an accurate interpretation of the results and, if necessary, advice about additional testing, treatment, or prevention and precautionary measures.
Can I have more than one type of porphyria?
Because all porphyrias are uncommon, it is very unlikely that more than one type of porphyria will occur in the same family, or that a person with one type of porphyria will go on to develop another type. However, patients with more than one type of porphyria have been reported.
Can porphyria improve with age?
The symptoms of porphyria do not improve with age, per se.  Untreated, the symptoms and the secondary effects of long-term symptoms will get worsen over time. However, with proper diagnosis, treatment of acute attacks (in the acute porphyrias), and following recommended preventive measures, it is possible that symptoms may be lessened.
Should I be tested often?  How often?
Monitoring of porphyrin levels and other follow-up testing is dependent on the type of porphyria and the medical status of the individual.  It is, therefore, important that a person who has been diagnosed with porphyria be followed by a porphyria expert.
Does porphyria affect my liver?  Should I have liver tests?
Liver function tests should be performed routinely on all individuals diagnosed with porphyria.
Do people have liver transplants for poprhyria?
Liver transplantation may be beneficial for individuals with end-stage liver disease as a result of porphyria. 
My doctor diagnosed me with porphyria but the porphyria expert said I did not have it.  Why would this happen and should I be retested?
Such a situation needs to be dealt with on an individual basis.  Whether further testing is recommended depends on how the patient was initially diagnosed and how the porphyria expert made the decision that porphyria is not the diagnosis.  The results of biochemical testing are sometimes interpreted incorrectly by a physician who is not an expert in porphyria. Review of the results of the biochemical testing by a porphyria expert may determine that the results are not consistent with what is typically seen in a patient with porphyria during an attack. The results of DNA analysis may also contribute to the porphyria expert saying that it is unlikely that the patient has porphyria. DNA analysis, although considered to be the gold standard for diagnosis, is not perfect in that the patient may have a mutation in a part of the porphyria gene that is not analyzed by routine testing or the patient has a mutation in a porphyria gene that was not analyzed. In the event that a diagnosis of porphyria is still suspect, then it is recommended that the patient undergo additional biochemical testing at the time of an acute attack.  Additionally, further testing may include DNA analysis for other acute porphyrias (if only one or two were tested). 
Is porphyria research being conducted?  How can I volunteer to participate in research? 
Yes. For additional information about research being conducted and how to volunteer to participate, please contact either the Porphyrias Consortium Coordinator by email ( or telephone (212-659-6779) or one of the site coordinators (see list of Porphyrias Consortium Members for locations and contact information).
Acute Porphyrias
Does surgery or pregnancy pose additional risks?
Porphyria-related risks of surgery and pregnancy depends on the type of porphyria.  Surgery may increase the risk of an attack of the acute porphyrias.  This risk can be greatly reduced if certain precautions are taken, including the type of anesthesia used.  The patients surgeon and anesthesiologist should consult a porphyria expert prior to hospitalization for surgery.  Such consultation may also be helpful during pregnancy.  Although attacks of acute porphyria can occur during pregnancy, the risk appears to be less than formally thought.  Treatment of acute attacks during pregnancy is feasible.
What drugs are safe and unsafe?
For information about safe and unsafe drugs in the acute porphyrias, it is best to consult the American Porphyria Foundation Acute Porphyrias Drug Safety Database ( or the European Porphyria Initiative (  The databases contain expert assessments of the potential of drugs to provoke attacks of acute porphyria (AIP, VP, HCP & ADP) based on the available evidence. However this evidence is not always complete, which may lead to some degree of uncertainty.   The information in these databases is meant as guidance to health care professionals. It must be made clear that the prescription of drugs to a patient with acute porphyria is entirely at the risk of the physician in charge.
Since most commonly used drugs have not been tested, they should be avoided if at all possible.  If a question regarding drug safety arises, a physician or medical center specializing in porphyria should be contacted.
Can men have acute porphyria?
Yes.  Since the acute porphyrias are inherited in an autosomal dominant pattern, males and females are equally at risk for having an acute porphyria.  Exposure to certain environmental factors, such as drugs, chemicals, and diet, greatly influence whether an individualmales and females--with a mutation in a porphyria-causing gene has symptoms and the severity of symptoms.  However, one of the environmental is hormones, and, therefore, attacks are more common in women than in men.  Women may experience cyclical acute attacks associated with their menstrual cycle, starting in puberty.  Such attacks in women may occur after ovulation and during the last part of the menstrual cycle when progesterone levels are high.
Do I need a special diet with porphyria?
Nutritional recommendations for the acute porphyrias emphasize a high carbohydrate intake as part of a balanced diet that provides all essential nutrients. The recommendations include an adequate intake of dietary fiber, vitamins and minerals. The goals are to prevent acute attacks of Porphyria that may be related to diet, avoid deficiencies of nutrients, and maintain a normal body weight. More information on diet on theAmerican Porphyria website (
Will porphyria affect my thinking and memory?  
Generally, the acute porphyrias do not affect thinking and memory.  However, a person may experience some neurological effects, including confusion, convulsions, muscle weakness, and, rarely, paralysis, due to effects on the nervous system.
What precipitates a porphyria attack?
In an individual with an acute porphyria, an acute attack can be brought on by certain drugs, hormones in women, environmental factors including chemicals of various types, nutrition including fasting and low carbohydrate diets, alcoholic beverages, medical and physical stress, and physical fatigue.
I have acute porphyria:  Can I do the following:   take a flu shot, donate my organs, take a CAT scan with the contrast? 
Flu shots are not contraindicated for individuals diagnosed with acute porphyria, and can be taken safely. Any immunizations appear to be okay.  In fact, since other illnesses can bring on a porphyria attack, remaining healthy is one of the most important ways to prevent acute attacks.
There has been no information to date to suggest that CAT scans with or without contrast agents should not be performed on an individual with porphyria. 
Organ donation would be up to a particular transplant program or network.  In acute porphyrias any organ should be acceptable except perhaps the liver.  In the case of PCT organ donation would most likely be acceptable in the absence of a history of hepatitis C or HIV. 
What should I do if the drug I need is on the unsafe list?
Drugs on the unsafe list are those drugs that should be avoided by individuals diagnosed with an acute porphyria because they have been found to provoke an acute attack in some individuals.  If a drug prescribed for an individual diagnosed with an acute porphyria is on the unsafe list, the prescribing physician should check the Drug Database for a safe alternative.  No drug should be withheld if it is judged essential for optimum treatment of a life-threatening condition (e.g. chemotherapy for cancer).  The risk versus the benefit should be assessed and discussed with the patient.  For help with this assessment you may wish to contact a Porphyria expert.  It may be recommended that a patient undergo biochemical monitoring in the early stages of treatment It must also be noted that response to drugs in patients with an acute porphyria is extremely variable and individuals may be encountered who have used an unsafe drug without adverse effect.
Cutaneous Porphyrias
Is sunlight always harmful?
Sun sensitivity can occur in all but two types of porphyria, specifically AIP and ADP.  The degree of sensitivity to sunlight varies considerably.  Patients with sun sensitivity have high levels of porphyrins in the blood plasma which, depending on the type of porphyria, have originated from the liver or the bone marrow.  Ultraviolet light interacts with porphyrins in such a way as to damage skin tissue.  Some treatments may help patients tolerate sun exposure even without lowering porphyrin levels.  In some cases, treatment can lower porphyrin levels and sunlight can be tolerated.
Should I use a special sunscreen?  
Most patients with a cutaneous type of porphyria must learn to avoid sunlight as much as possible.  Protective clothing may also be recommended.  For patients with EPP, treatment with pharmaceutical grade β-carotene (Lumitene, Tishcon) or cysteine may improve sunlight tolerance but does not lower porphyrin levels.  Over-the-counter sunscreens and over-the-counter beta carotene (vitamin A) is not effective.

                               "Remember.Research is the key to your cure!"

57th American Hematology Society Meeting

Friday - October 9, 2015 @ 10:30:02

57th American Hematology Society Meeting

The APF will be exhibiting at the 57th American Hematology Society meeting in Orlando , Fl. The convention is held from December 5 to 8. We would like to ask you to help us man the exhibit booth.
We hand out physician education materials at the convention for the 8000 attendees.  Since many of you visit with hematologists, and since hematologists treat and diagnose many patients, we attend the ASH meeting each year as a part of our physician education program.
As the premier event in malignant and non-malignant hematology, this meeting will provide attendees with an invaluable educational experience and the opportunity to:
Review more than 3,000 scientific abstracts highlighting the updates in the hottest topics in hematology
Interact with the global community of more than 20,000 hematology professionals from every sub-specialty
Attend the hallmark Education and Scientific Program sessions
Network with top minds in the field
Please volunteer to help man the booth.  For details, contact us at 866.APF.3635.

"Remember.Research is the key to your cure!"

Genetics 101 of Porphyria

Thursday - October 8, 2015 @ 10:30:02

Genetics 101:  Basic genetics and inheritance

In order to better understand the Porphyrias and how the disorders are inherited, it is helpful to understand some concepts of basic genetics and inheritance patterns.

DNA, Chromosomes, and Genes:

Deoxyribonucleic acid (DNA) is a nucleic acid that contains the instructions used in the development and functioning of all known living organisms and some viruses. DNA is often compared to a set of blueprints or a recipe or a code because it contains the instructions needed to make certain proteins, which are the complex molecules that do most of the work in our bodies. Each of these proteins has a specific function in the cell, and, ultimately in how the organism develops, its physical makeup, and how it functions day-to-day. The DNA segments that carry this genetic information are called genes. The size of each gene varies greatly, and there are about 20,000 genes that are distributed along the 23 pairs of chromosomes.
A DNA molecule is a twisted double-strand of building blocks, called nucleotides.  It is like a twisted ladder, with the vertical stringers made of phosphates and sugars and the rungs made of pairs of nucleotides. There are four nucleotides in DNA:  adenine (A), thymine (T), guanine (G), and cytosine (C). Also important is that on each rung of this ladder, A always pairs with T, and G always pairs with C. These nucleotides along the ladder are like letters in a word, and put together in their specific order make up the words in a detailed set of instructions. These instructions are read using a special code, called the genetic code.
GenGenome Management Information System,
Oak Ridge National Laboratory
DNA is a double helix formed by base pairs attached to a sugar-phosphate backbone.
Within cells, DNA is organized into long structures called chromosomes. A chromosome is like a cookbook with many recipes (or genes) that tell the body how to function. The human body is made up of trillions of cells and over 200 different cell types like various blood, liver, and brain cell types.  Each cell contains 46 chromosomes. Each chromosome can be identified by its relative size and location of the centromere, a constriction in the chromosome. 
The chromosomes come in pairs.  Since there are 46 chromosomes, there are 23 pairs of chromosomes.  One chromosome in each pair comes from the persons father.  The other chromosome in each pair comes from the mother.
The first 22 pairs of chromosomes are called autosomes.  The autosomes are numbered 1-22.  These chromosomes determine an indivduals physical appearance and tell the body how to function day-to-day. 
The 23rd pair of chromosomes is called the sex chromosomes.  Parts of these chromosomes determine whether an individual will be male or female, but they also carry additional important information.  A female has two X chromosomes.  A male has one X chromosome and one Y chromosome.
Along each chromosome, there are thousands of genes. Since the chromosomes come in pairs, the genes along them also come in pairs. This means that the genes that are found on one chromosome in each pair are the same as the genes that are found on the other chromosome in that pair. The sex chromosomes are an exception.  Most of the genes that are located on the X chromosome are different from the genes that are located on the Y chromosome. For example, the ALAS2 gene, involved in X-linked Erythropoietic Protoporphyria (EPP), is on the X chromosome, but is NOT on the Y chromosome.
Each gene is a set of instructions that tells the cell how to make a specific product called a protein. These proteins have the job of telling the body how to grow and develop as well as how to do all the things that are necessary for the body to work properly every day.  Any change in one of these genes may interfere with the bodys ability to make one of these necessary proteins. A gene change is called a mutation.
Autosomal Dominant Inheritance:
Since autosomal genes always occur in pairs, with one coming from each parent, individuals with an autosomal dominant form of porphyria [Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), familial Porphyria Cutanea Tarda (f-PCT)] have one non-working gene with a mutation on one chromosome, paired with a working (or normal) gene on the other chromosome.  Usually, the non-working gene was inherited from one of the individuals parents. Rarely, a new mutation (also called a de novo mutation) can occur in the affected individual and not be present in one of his parents. However, the de novo mutation will be inherited by 50% of the patients offspring. In individuals with an autosomal dominant form of porphyria, there is a 50% chance with each pregnancy that the non-working gene will be passed on to a child.  Some of those who inherit the non-working gene will develop symptoms.

Autosomal Recessive Inheritance:

Individuals with an autosomal recessive type of porphyria [Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EEP) and Hepatoerythropoietic Porphyria (HEP)] have a pair of genes with mutations that affects the function of the enzyme encoded by the gene. In such individuals, one mutant gene was passed on from each of their parents. If their children only inherit one mutant gene for that porphyria, which will be paired with a normal gene from the other parent, and the child will be a carrier, but will not have symptoms.
If two carriers of the same or similar mutant recessive gene have children, there is a 25% chance with each pregnancy that the child will inherit two mutant genes (one from each carrier parent), and these children will develop symptoms of the disease.
X-Linked Inheritance:
The sex chromosomes are the X-chromosome and the Y-chromosome. Females have two X-chromosomes, and males have one X-chromosome and one Y-chromosome. In X-linked disorders [for example, X-Linked Protoporphyria (XLP], the gene is located on the X-chromosome, and the risk for children depends on the gender of the affected parent. If a female has the mutation, there is a 50% risk for passing the mutation onto her children with each pregnancy.
© 1995 Greenwood Genetics Center
For a male who has the gene mutation, all of his daughters will get the mutation, but none of his sons.
© 1995 Greenwood Genetics Center
X-linked inheritance (when the mother has the mutation)
If a daughter gets the gene mutation from either her mother or her father, the daughter may or may not have symptoms, and the severity of symptoms may vary even among the females in the same family. For this reason, in most X-linked disorders, including X-Linked Protoporphyria, females who have the gene mutation are referred to as heterozygous for the mutation, rather than carriers which infers that they will not have any symptoms (as in autosomal recessive disorders). If a son gets the mothers mutation, he will have symptoms.

Clinuvel and FDA discuss EPP indication and regulatory pathways for SCENESSE

Wednesday - October 7, 2015 @ 13:07:55

Clinuvel and FDA discuss EPP indication and regulatory pathways for SCENESSE

The attached document discusses the latest news from FDA and Clinuvel:
Type C meeting provides guidance for follow up and further discussions between FDA and Clinuvel.
Clinuvel Pharmaceuticals Limited (ASX: CUV; ADR:CLVLY; XETRA:DAX) today announced that on September 30 it met in Silver Spring, USA, with the US Food and Drug Administration's (FDA's) Division for Dermatology and Dental Products (DDDP) and representatives of the Center of Drug Evaluation and Research (CDER). The objective of the meeting was to discuss the US regulatory review of SCENESSE (afamelanotide 16mg) to be made available to American erythropoietic protoporphyria (EPP) patients. In 2014 SCENESSE was granted marketing authorisation by the European Medicines Agency as a prophylactic photoprotective drug for adult EPP patients.
The DDDP stated that it was seeking a regulatory pathway to make SCENESSE available in the US, and the regulatory avenue of Accelerated Approval was suggested, pending FDA's review, analyses and further discussions on available photoprovocation and data on quality of life in EPP patients.
A discussion was held on the drug's benefits to patients who had received SCENESSE. Expert European and US porphyria clinicians were invited to share their experience in the treatment of EPP patients and the use of SCENESSE in their patients. Further discussions will be held with the DDDP following the review of photoprovocation and quality of life data.

"Remember.Research is the key to your cure!"

CME Course share with your Medical community today

Monday - October 5, 2015 @ 10:30:01

New Continuing Medical Education Course CME

Exciting New Continuing Medical Education Course CME With Drs Herbert Bonkovsky, Lisa Kehrberg and Brendan McGuire. 
Medscape has produced an outstanding new physician education video that can be found on the Medscape website.

Acute Intermittent Porphyria: A View From the Trenches:
Herbert Bonkovsky, MD;  Brendan M. McGuire, MD, MS;  Lisa Kehrberg, MD
CME/CE Released: 09/25/2014; Valid for credit through 09/25/2015
Please advise your physicians of this free CME course for CME credit.
You, too, can watch the video by joining the complimentary Medscape online site.  
You can register easily and view this and other porphyria videos, as well as a host of additional excellent articles written about all types of porphyria.  

Our thanks to Dr Bonkovsky, Dr Kehrberg and Dr McGuire.  

AIP Research Experiences

Friday - October 2, 2015 @ 10:30:07

Will you help with medical research?

                                                        Why is important?  

What does it entail? 

                                                                                       When does this research happen?

                              What Happens?

                   Take a look at a few who have expressed why research is so important!

Tracy Yelen ~ Research Experience

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
"If you're at all interested in what they are doing to me in this Panhematin trial, I am happy to share. During the entire stay, the medical team accessed my port.  They drew all the blood they wanted without all the usual IV sticks, which is nice. Every morning after breakfast we did the infusions, which may or may not be a placebo.  Neither the nurses nor I were allowed to see what was pumping into me.  So I am blindfolded and there are sheets hung in the room to cover the medicine and tinfoil around the lines. It takes only a couple hours to complete.  I snoozed and chatted with the sweet nurse.  Outside of that, the dextrose fluids are flowing in through my port 24/7. Otherwise, it was pretty uneventful.  Why do I tell you this?  Basically, I want to remind you of how important it is to volunteer as a research patient if you ever get the opportunity. There are lots of trials that even perfectly well people can do for various different studies and various different medical reasons."
~Tracy Yelen, AIP

Steve Stevens ~ Research Experience

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)

"I volunteered for the Alnylam Study about a month ago and yesterday (March 30) I went to Birmingham, Alabama to do the initial Observation Part of it. The APF set up everything to get me there and back home. Jessica handled all the travel arrangements and I can't say enough of the awesome job she did. I didn't have any layovers longer than 45 minutes. That was amazing because I have had layovers in the past last for hours. Thank You Jessica for the great itinerary and asking for any input before you booked the flight. Before I forget, the plane tickets, food, taxi costs, etc. was covered by the APF. It didn't cost me a penny. I got to meet Dr. Bloomer and Dr. Singal. They explained to me what the Study was and answered all my questions. I haven't met many doctors like them, after talking to them I could see and feel their sincerity about helping us. They are great. The Study Administrator's name is Toni and she is so fantastic. She sat with me and explained the paperwork in detail and answered any questions I had pertaining to the Study or questionnaires that I was answering. I was very impressed how professional and organized she is. She made sure everything was completed and I had enough time to get back to the airport in time for my trip home. She and the doctors are very special people. I cannot say enough about them.
I am glad I volunteered for the Study and would encourage anyone that has one of the acute porphyria's to do so also. I hope to volunteer for future research and hope others do too. You are helping yourself, your family and your future generations."
~ Steve Stevens, AIP

                          "Remember.Research is the key to your cure!"

Your APF Membership

Wednesday - September 30, 2015 @ 10:30:06

Your APF Membership
We are currently working on the next issue of the Newsletter, where you can find latest news, updates and stories from the porphyria world.Our members, who made deductible charitable contributions, will receive the fresh issue.
The APF is able to maintain our physician and patient education programs and many other services because of your support. Since we do not receive government funding, we need your support and donations. Is your membership and contact information up to date? If you have moved, please update us with your current address. Be sure to send us your email address so you can receive the E-news.

Support the APF with AmazonSmile for Charitable Organizations!
You can also support the APF through the AmazonSmile program! Amazon will donate 0.5-0.8% of the price of your eligible purchases to us, at no cost to you. Please make us your choice of a charitable organization, support the research while shopping!
Please note, the program will only be available to shoppers who visit Amazon via a special web address - - instead of the normal homepage.
It is easy and free, AmazonSmile is the same Amazon you know. Same products, same prices, same service. Thank you for supporting us!
Please follow the link to get started:

"Remember.Research is the key to your cure!"

Do you have Porphyria?

Monday - September 28, 2015 @ 10:30:06

Symptoms:  Do you have a porphyria?

The Acute Porphyrias:

According to Porphyria experts, approximately 80% of individuals who carry a gene mutation for acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria, and  remain asymptomatic, and others may have only one or a few acute attacks throughout life.  In most of these cases levels of ALA, porphobilinogen, and porphyrins in urine, serum, and feces are normal. Additionally, most patients with ALA-dehydratase deficiency porphyria also remain asymptomatic for most of their lives.  Severe abdominal pain, the most frequent symptom, is diffuse rather than localized and is often accompanied by nausea, vomiting, bloating, constipation, and sometimes diarrhea. Other symptoms include insomnia (often an early symptom), heart palpitations, seizures (sometimes due to salt imbalance in the body as a result of excessive vomiting and/or diarrhea), restlessness, hallucinations, and other acute psychiatric symptoms.
The common symptoms of the acute porphyrias include:
  1. Abdominal pain:  severe, diffuse, usually lasting for hours or longer
  2. Vomiting
  3. Constipation
  4. Diarrhea
  5. Pain in extremities, back, chest, neck, or head
  6. Loss or impairment of movement
  7. Respiratory paralysis
  8. Behavioral changes, including agitation, confusion, hallucinations, and depression.
  9. Convulsions, as a result of excessive vomiting and/or diarrhea
  10. Increased heart rate

The Cutaneous Porphyrias

The most common symptoms of the cutaneous porphyrias are photosensitivity and/or skin fragility. Photosensitivity presents within minutes of exposure to sun and some types of artificial light with severe burning pain especially on the back of the hands, the face, and the top of the feet. Attacks may last for 23 days, and are usually unresponsive to any pain medication except cold air and cold water. Except in EPP, this is often accompanied by painful blisters which can take weeks to heal, may bleed, and result in scarring and changes in skin color at the sites of the blisters. In CEP, this photosensitivity may lead to mutilation and loss of facial features and fingers. Patients with PCT, HEP, and CEP may also present with increased hair growth, typically on the temples. Additionally in CEP, brownish-colored teeth which fluoresce under ultraviolet light and mild or severe hemolytic anemia are common.
The common symptoms of the cutaneous porphyrias include:
  1. Sensitivity to sunlight
  2. Fragile skin
Depending on the type of cutaneous porphyria, the following symptoms may also be present:
  1. Blistering
  2. Scarring
  3. Changes in skin color
  4. Increased hair growth
  5. Anemia
  6. Teeth discoloration
  7. Bone fragility or bone loss, due to Vitamin D deficiency
                                "Remember.Research is the key to your cure!"

Experiences in Research Studies A Must read!

Friday - September 25, 2015 @ 12:05:02

Dear APF Members, family and friends:

I thought you would want to know that the APF has been collecting Research experience stories that are now on the APF Member stories section on the website labeled Research Experience (Next to their name)  

Please take some time to read each members experience. We still need you to participate in research, we are rare so please take a few moments to consider volunteering your time for a wonderful cause. Feel free to click on the link above. Be a Medical Hero today!

Have a happy and healthy Autumn to ALL

Friday - September 25, 2015 @ 10:30:10


              Have a happy and healthy Autumn everyone!
                     American Porphyria Foundation 

                                    "Remember.Research is the key to your cure!"

Clinical Trials for Acute Porphyrias we still need you!

Wednesday - September 23, 2015 @ 10:30:09

We still need Medical Heroes for Acute Porphyrias. Part 2

Check out this one.  Please contact the APF:  1-866-APF-3635 ask for Jessica or Natalia for more Information

Trial record 3 of 24 for:    alnylam

A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by Alnylam Pharmaceuticals
Information provided by (Responsible Party):
Alnylam Pharmaceuticals Identifier:
First received: May 19, 2015
Last updated: May 21, 2015
Last verified: May 2015
The purpose of this study is to evaluate the safety and tolerability of ALN-AS1 in AIP patients as well as to characterize pharmacokinetics (PK) and pharmacodynamics (PD) of ALN-AS1 in AIP patients.

Acute Intermittent PorphyriaDrug: ALN-AS1
Drug: Sterile Normal Saline (0.9% NaCl)
Phase 1

Study Type:Interventional
Study Design:Allocation: Randomized
Endpoint Classification: Safety Study
Intervention Model: Parallel Assignment
Masking: Single Blind (Subject)
Primary Purpose: Treatment
Official Title:A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP)

Resource links provided by NLM:

Further study details as provided by Alnylam Pharmaceuticals:

Primary Outcome Measures:
  • The safety of ALN-AS1 evaluated by the proportion of subjects experiencing adverse events (AEs), serious adverse events (SAEs), and AEs leading to study drug discontinuation [ Time Frame: Part A (SAD phase): through day 42; Part B (MAD) phase: through Day 70; Part C (MD) phase: through Day 126 ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • Profile of Pharmacokinetics (PK) of ALN-AS1 [ Time Frame: Part A (SAD) phase: predose - 42 days post-dose; Part B (MAD) phase: predose - 70 days post-dose; Part C (MD) phase: predose - 126 days post-dose ] [ Designated as safety issue: No ]
    Cmax, tmax, AUC, t1/2
  • The change in delta-aminolevulinic acid (ALA) from baseline [ Time Frame: Part A (SAD) phase: screening - 42 days post-dose; Part B (MAD) phase: screening - 70 days post-dose; Part C (MD) phase: screening - 126 days post-dose ] [ Designated as safety issue: No ]
  • The change in Porphobilinogen (PBG) from baseline [ Time Frame: Part A (SAD) phase: screening - 42 days post-dose; Part B (MAD) phase: screening - 70 days post-dose; Part C (MD) phase: screening - 126 days post-dose ] [ Designated as safety issue: No ]

Estimated Enrollment:48
Study Start Date:May 2015
Estimated Study Completion Date:July 2016
Estimated Primary Completion Date:May 2016 (Final data collection date for primary outcome measure)
ArmsAssigned Interventions
Active Comparator: ALN-AS1Drug: ALN-AS1
Single or multiple doses of ALN-AS1 by subcutaneous (sc) injection
Placebo Comparator: Sterile Normal Saline (0.9% NaCl)Drug: Sterile Normal Saline (0.9% NaCl)
calculated volume to match active comparator


Ages Eligible for Study:  18 Years to 65 Years
Genders Eligible for Study:  Both
Accepts Healthy Volunteers:  No
Parts A and B
Inclusion Criteria:
  • Diagnosis of AIP
  • Urine PBG at Screening indicating patient is a high excreter
  • No clinically significant health concerns
  • Women of child bearing potential must have a negative pregnancy test, not be nursing, and use effective contraception
  • Willing to provide written informed consent and willing to comply with study requirements.
Exclusion Criteria:
  • Porphyria attack within 6 months of screening
  • Started a new prescription medication within 3 months of screening
  • Clinically significant abnormal laboratory results
  • Received an investigational agent within 90 days before the first dose of study drug or are in follow-up of another clinical study
  • History of multiple drug allergies or intolerance to subcutaneous injection
Part C
Inclusion Criteria:
  • Diagnosis of AIP
  • Patient experienced a porphyria attack or was taking medication to prevent attacks recently
  • No clinically significant health concerns
  • Women of child bearing potential must have a negative pregnancy test, not be nursing, and use effective contraception
  • Willing to provide written informed consent and willing to comply with study requirements.
Exclusion Criteria:
  • Stared a new prescription medication within 3 months of screening
  • Clinically significant abnormal laboratory results
  • Received an investigational agent within 90 days before the first dose of study drug or are in follow-up of another clinical study
  • History of multiple drug allergies or intolerance to subcutaneous injection
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02452372

Here is some New Information. Part 1 of 2 Press Release for the Acute Type Porphyrias

Monday - September 21, 2015 @ 18:14:47

Here is some New Information.  Part 1 of 2 Press Release for the Acute Type Porphyrias

September 16, 2015

Dear Alnylam Patient Connect Community,

We are excited to share news of clinical progress with ALN-AS1, a subcutaneously administered (i.e., injection), investigational RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1) for the treatment of acute hepatic porphyrias. On September 15th, we presented initial clinical data from our ongoing Phase 1 study of ALN-AS1 during an oral presentation at the International Congress of Porphyrins and Porphyrias (ICPP) in Dusseldorf, Germany.

You can read our press release and view our data presentation here.

We are very excited by the data from our ALN-AS1 program. On behalf of all of us at Alnylam, we are committed to advancing this novel, investigational medicine for people living with hepatic porphyrias.

Alnylam Patient Connect

Note:  If you are a patient, we encourage you to speak to your physician to obtain information about our clinical trials.  Detailed information about our trials can be found

SCENESSE Released for European Distribution

Monday - September 21, 2015 @ 10:30:01

SCENESSE Released for European Distribution

Clinuvel Pharmaceuticals Limited (ASX: CUV; ADR:CLVLY; XETRA:DAX) announces today that the European Medicines Agencys (EMAs) Pharmacovigilance and Risk Committee (PRAC) has agreed to a Post Authorisation Safety Study (PASS) protocol, allowing SCENESSE (afamelanotide 16mg) to be released for the commercial supply to adult patients diagnosed with erythropoietic protoporphyria (EPP). While SCENESSE was granted European marketing authorisation by the European Commission on 22 December 2014, it has taken a further nine months to gain agreement on the proposed PASS protocol.
Read the attachment from Clinuvel for the details: SCENESSE released for European Distribution
                         "Remember.Research is the key to your cure!"

New Fundraiser: The Barrel Race in Vernon, TX

Friday - September 18, 2015 @ 10:30:01

 The Barrel Race in Vernon, TX

Today we would like to tell you about the upcoming undertaking from the Cook family. As you may know, the Cook brothers, Cason and Caul, have EPP and have set a great example about enhancing awareness of the disease in their local area. They have been hosting a Hat Day for many years in their home town of Vernon, TX. This year, in addition to a Hat Day, Cason & Caul are hosting The Shadow Race (benefit barrel race) in Vernon, TX in November.  They are getting some t-shirts together to sell as well. We appreciate all your support in raising awareness! 


"Remember.Research is the key to your cure!"

Purple Poem of Porphyria

Wednesday - September 16, 2015 @ 10:13:30

Where I'm from, everything is in purple

It is so beautiful but everyone wants out
Because where I'm from all is purple, all is one

In here, we can see the whole color spectrum
Be it orange, be it green, perhaps red, or maybe black

In the end though only purple is on our mind
They don't have that purple here
here, it's nowhere to be found

Embrace that you are special
a rare precious gem
We are Porphyria strong!

                       "Remember.Research is the key to your cure!"


Porphyria: A Lyon's Share of Trouble an Update

Monday - September 14, 2015 @ 10:00:03

If you read the first edition, you will want to read what has happened over the past ten years. 

In this remarkable updated book, Desiree offers an information rich discussion of the porphyrias, a group of rare metabolic diseases. She also discusses her own case, as well as those of many other patients whom she has helped over the past thirty five years as co-founder and Executive Director of the American Porphyria Foundation. 

Desiree embraces the challenges of porphyria with courage and humor and writes about them in an open and honest dialogue. After twenty-five years as a medical writer, she has delineated the new and exciting developments in the treatments of all the porphyrias, offering explanations about this complicated group of diseases in a readable manner. 

Every patient and family member will derive tremendous insight and guidance from Desirees experience, as well as vital information to aid in navigating the complexities involved in confronting and surmounting the porphyrias. 

*All proceeds from Porphyria: A Lyon's Share of Trouble an Update go directly to the American Porphyria Foundation. ~ To order your copy today

"Remember.Research is the key to your cure!"

We need you! Longitudinal Study of the Porphyrias

Monday - September 7, 2015 @ 10:30:00

Longitudinal Study of the Porphyrias
We are looking for patients volunteers for the 7201 Longitudinal Study of the Porphyrias. The purpose of this long-term follow-up study is to provide a better understanding of the natural history of porphyrias, as affected by available therapies, and to aid in developing new forms of treatment. You will be working closely with porphyria experts and researchers.
Volunteering for research is the most important action you can take to change your future health because Research is the Key to Your Cure.  You can be a Medical Hero and join many patients, who gave some of their time to help find important answers leading to new and improved treatments and a cure.
To find out more information and participate in a study, please contact us at the APF 866-apf-3635 to be put in touch with the study center closest to you.

"Remember.Research is the key to your cure!"

PCT- Facts from NIH

Friday - September 4, 2015 @ 14:27:06

Phlebotomy, known also as bloodletting or venesection, is a major therapeutic procedure that has been performed by physicians in various civilisations since antiquity up to the present,. In the past it was practised using cupping, lancets or by the application of leeches. This procedure often weakened the patient and resulted in his or her death. A famous example is that of President George Washington who died in 1799 following the removal of approximately 1.7 litres of blood during a bloodletting procedure for acute epiglottitis. Originally, several thousand years ago, phlebotomy was used for the treatment of various disorders, but in addition to its therapeutic benefits, phlebotomy also had a preventive role. In present day medicine, phlebotomy can be performed in physicians offices, at a blood bank or in hospital under the supervision of a doctor after obtaining a medical prescription stating the indication and number of phlebotomy sessions required. Currently, therapeutic phlebotomy is approved for three main indications: haemochromatosis, polycythaemia vera and porphyria cutanea tarda. It has also been used as a treatment alternative for many other diseases in various countries, especially in Chinese medicine, although these indications are not approved by western medicine.

Porphyria cutanea tarda

Porphyria cutanea tarda (PCT) is a rare metabolic disorder caused by uroporphyrinogen decarboxylase deficiency that leads to the accumulation of uroporphyrinogen and highly carboxylated porphyrins in the liver, plasma, urine and sometimes faeces. There are three types of PCT: two familial and one sporadic. Most of the cases are sporadic (80% approximately) and have been associated with several risk factors such as alcohol abuse, hepatitis C, oestrogen use, smoking, hepatic siderosis and human immunodeficiency virus infection. Hepatitis C is one of the most important risk factors; in a recent systematic review and meta-analysis, 50% of PCT patients were found to have hepatitis C infection suggesting an important role in the pathogenesis of PCT although the pathophysiology is still unclear,HFE gene mutations, especially C282Y homozygosis, has also been found in PCT patients, which explains the iron excess in this disorder, although true haemochromatosis is rare.
Clinically, PCT is characterised by chronic blistering skin manifestations that include photosensitivity, increased skin fragility with bullae, erosions, and hyper- or hypo-pigmentation that affects sun-exposed areas of the body; however, these skin manifestations are not specific and they do not confirm the diagnosis. Liver involvement is also common especially in the sporadic form with cirrhosis, fibrosis and increased risk of hepatocellular carcinoma. The diagnosis of PCT requires both clinical and biochemical features. Laboratory investigations include porphyrin chromatographic separation that shows markedly increased uroporphyrins and heptacarboxyl porphyrins in plasma and/or urine, with lesser amounts of penta- and hexa-carboxyl porphyrins. Faecal porphyrins, consisting mainly of isocoproporphyrins, are also increased while the erythrocyte porphyrins are normal. UROD activity analysis with gene sequencing is essential in familial PCT.
Liver biopsy is indicated in the event of liver damage demonstrated by markedly increased serum transaminase levels, while skin biopsy is of little benefit because it often only shows sub-epidermal bullae with minimal inflammation. An important aspect of treatment is the avoidance of any risk factors such as alcohol, excessive iron or oestrogen and hepatitis C that can potentially exacerbate the disorder. Therapeutic phlebotomy has long been considered the treatment of choice in most patients with PCT; hydroxychloroquine is the alternative treatment if phlebotomies cannot be tolerated. According to Rocchiet al., 450 mL of whole blood should be removed during each phlebotomy session, with sessions repeated every 2 weeks until the haemoglobin level is below 11 g/ dL or until the serum ferritin level is below 20 ng/ mL, which is close to the lower limit of normal. Most patients require 6 months to achieve remission but clinical improvement may be noted during the third month after starting phlebotomy. Hydroxychloroquine was found to be superior to phlebotomy in decreasing porphyrin production; however, liver disease was more severe in the hydroxychloroquine group. No difference was seen between therapeutic phlebotomy and desferrioxamine injection.
Skin blistering was the first sign to disappear in patients, at an average of 2 to 3 months and a maximum of 9 months; this was followed by improvement of skin fragility, hypertrichosis and hyper- or hypo-pigmentation while pseudoscleroderma may improve in some patients. Urinary porphyrin levels return to normal but although liver function tests may improve following phlebotomy, the extent of liver damage does not improve,. Phlebotomy must be stopped after achieving remission or when iron deficiency anaemia occurs; however, relapse may occur during the first 5 years of treatment especially when risk factors are still present, such as excessive alcohol consumption.

For the full article please use this link:

                                       "Remember. Research is the key to your cure!"

Dateline NBC documentary "Out of the Shadows" links

Wednesday - September 2, 2015 @ 10:30:02

Dateline NBC documentary "Out of the Shadows" links

If you missed a Dateline NBC documentary "Out of the Shadows", about children who must avoid sunlight because of their medical conditions, you can view it online on the NBC News website:

"Remember. Research is the key to your cure!"

Thank You Shawn Willis Fundraiser News Review

Tuesday - September 1, 2015 @ 10:30:00

We would like to thank our long-term member, Shawn Willis, for organizing and hosting the terrific fundraising awareness event! Below is the article written by Bill Cresenzo published in The Times News:
Friday Night Race Raises Awareness, Funds For Skin Disease
Around 200 people walked or ran in a 5-K fundraiser coordinated by owners of Triad Chick-fil-A.
Growing up in Alabama,  Shawn Willis lived with a rare and obscure disease that, at least  for himself and his parents, didn't have a name.
"I remember purple-like balloons sitting on top of my feet," he said." My head became so swollen, I couldn't hold it up."
Finally, when he was eight years old, a doctor finally gave a name to the disease that had made the boy so sensitive to light that he couldn't be in the sun without devastating damage.
It's called Porphyria, and it afflicts only about one in 250,000 people. According to the Mayo Clinic, it is a "group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin."
There is no treatment, although Willis said one is now on the horizon, and no cure.
Willis and others want to change that.
On Friday evening, up to 200 people walked or ran in a five-kilometer fundraiser that was coordinated by owners of Triad Chick-fil-A. Willis owns the restaurant on University Drive, the site of the run/walk.
Organizers hoped to raise at least $7,000 for the American Porphyria  Foundation.
Willis cannot stay in the sun without a wide-brimmed hat, sunglasses, gloves, long sleeve shirts and pants. He has to wear a mask when he's out in the
Growing up was hard, he said - "Imagine going to school as a sixth-grader wearing a sombrero and garden gloves" -  but now, he keeps a keen sense of humor.
Otherwise, he said, he would become a recluse like so many who have the diseases.
He gets strange looks when he wears a mask, he said, particularly when he is at the airport or anywhere where security is a concern.
"There are people who who become bitter and live like hermits," he said. "They don't leave the house because of the way people treat you. But you can say, 'You know what? I'd rather be out here and made fun of rather than not to be out here."
Tristan Sterling of Timberlake volunteered at the event with his mother, Jennifer Spencer and brother, James Burnette.
"This really helps raise awareness," he said.

"Remember.Research is the key to your cure!"

Shayne Henkelmans story with AIP

Wednesday - August 26, 2015 @ 10:30:00

Shayne Henkelman

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
 My name is Shayne Henkelman from Calgary, Alberta, Canada and this is the story of how I came to be diagnosed with Acute Intermittent Porphyria.
 Looking back now I displayed signs of the disease early on in my life. I had fairly chronic issues with my stomach and bowels up until the time I was about 7 years old. The doctors never really determined the cause from what I can recall and likened my issues to laziness and immaturity.
 From the time I was 7 until I was 22 I lived a pretty normal symptom free life. In March of 1995 I was working on a service rig in the oil patch of Northern Alberta when I fell victim to an industrial accident which ended up with me having third degree full thickness burns to my right leg from the knee down. It was during the recovery process I started having unexplained attacks of severe abdominal pain and debilitating vomiting that would leave me crippled on the ground and always required trips to the Emergency Room to correct.
 At first the popular consensus among the medical professionals was that my body was basically going through withdrawal from the very large amounts of opioid analgesics that I had been receiving for upwards of eight months to deal with the pain of the burn. That theory was soon to be disproven however as the length of time increased that I had been off the medication. The frequency and severity of the attacks also greatly increased to the point I was having an attack every 7 to 10 days, and presenting to whatever Emergency Room was closest every time.
 Thankfully after about 3 years of this the attacks had seemed to decrease greatly, happening maybe only 3 or 4 times a year. During this time the doctors ran me through every test they could possibly think of to try and determine what was going on. Most of them showed nothing at all physically wrong, the only real consistent thing revealed was a greatly increased white cell count during every attack. The amount of theory, conjecture and false diagnosis during this time was ridiculous. Unresolved infection in the burn, crohns disease, colitis, irritable bowel, psychological disorder, and the ever present assumption of drug seeking. Between the stresses the attacks had on my body, and the associated feeling of being a lab rat for a system that was never going to figure out what was wrong with me I was in a very poor state of mind.
 In 2001 I had a pretty severe attack that had the ER physicians and Internalists concerned enough that they decided to conduct an exploratory procedure to see if they could determine anything from an inside viewpoint. When I awoke I was informed that my gall bladder was rotten like a bad apple and that it had been removed. They assured me that it had been the sole issue of all my worldly woes and that in short order I should be feeling as good as new. I still remember the feeling of relief and elation when they said that to me. I also still remember the feeling of hopelessness I had 6 weeks later when I had my next attack.
 Enter the second round of conjecture and theory, the whole while subjecting me to every test imaginable, numerous times, no matter how invasive. And I did them all, because I knew there had to be something wrong. The other alternative, that I was crazy, I just didnt want to accept.
 In 2005 things took some interesting turns. Although my attacks still came every month or so I was feeling pretty good in May of that year. My sister and I decided to spontaneously drive down to Las Vegas for the weekend for a bit of fun. Oh what fun it was to beâ?¦ We stopped just outside of Vegas to eat, and as I took the first bite I knew an attack was imminent and sure enough it came on very fast and furious. I spent the first day laying in the hotel room while my sister went to the strip, with the exception of the 6 hours I was forced to lay outside in the blazing sun after having locked myself out of the room and not being able to get a new key as my sister hadnt registered my name on the room. Those with Porphyria can imagine the effect that had on my attack. When my sister came back I was in bad shape and she rushed me to the hospital.
 They actually got me feeling better very quickly surprisingly. Or maybe it was my stubbornness of not wanting to miss the fun of Vegas, either way I signed myself out after about 20 hours against recommendations, leaving at about 8 in the morning. I enjoyed the most of the day, having a few minor issues but nothing serious. That changed come about 7 that evening when the attack started again, this time more severe than any other I had ever experienced. The first hospital refused to see me as I had signed myself out earlier. By the time we arrived at the next closest hospital I was literally near death. My liver had almost completely stopped functioning and I wound up in the ICU, and later admitted for two weeks before I was stable enough to take a flight back home.
 The amount of pain that followed the next months was incredibly unbearable. My then GP worked through almost every painkiller there was with me before we found one that didnt have severe side effects of one sort or another, OxyContin, and I began taking it like crazy to control the pain.
 In November of that year I finally had an appointment with a well-regarded GI specialist in Calgary. After telling him my symptoms and history he immediately said it sounded like a very rare disease that he had never actually encountered in his practice, Porphyria. After departing his office and doing my own research I had absolutely no doubt that finally I had the answer to my issues! Again I was ecstatic! The doctor ordered blood tests and the 24 hour urinalysis. And lo and behold, they both came back negative and the prognosis was dismissed by the doctor yet again.
 After what I had read by professionals and other patients online I wasnt so quick to be dismissive however. After all, this was the only disease I had found where every symptom fit like a perfectly placed puzzle piece. I found out about the DNA testing that was available at Mt. Sinai and inquired about it. My GP was willing to set it up for me, the only drawback was it would cost $1000.00 US and not a penny of that was covered by either Government healthcare or my private insurance. I didnt let that stop me however. That month my landlord did not receive her rentâ?¦
 Six weeks later the results were in and it was conclusive that I indeed did have AIP. I finally had an answer, and again I was ecstatic thinking that was the end of it! Unfortunately I was very, very wrong. You see, during this whole period my pain was still there, and due to my body becoming used to the pain medication the amount I was being prescribed kept going up and up. Eventually I was taking 80 mg of OxyContin every 4 hours, with maybe 4 or so Percocet in between doses for breakthrough pain. At one point I ran out of pain meds for a single day and felt horrible.
 I bluntly asked my GP if I was becoming addicted and he assured me that OxyContin was not addictive according to the manufacturer Purdue Pharmaceuticals, and further Shayne, you have never struck me as having an addictive personality. So I continued with taking them as ordered. For years.
 I really discovered how wrong he and Purdue were three months later when I arrived at his office for a scheduled appointment to find it locked and empty. 12 hours without the Oxy and I was at the hospital going through withdrawal. They refused to give me anything and the doctor flat out told me that my GP had caused a major epidemic of addiction in our small town with his very liberal prescribing of opioids. He told me that I should call the College of Physicians and Surgeons to inquire, which I did to find out his ability to prescribe medications had been suspended hence his quick closure.
 I searched high and low to find a doctor to prescribe me more pain meds as I was getting very ill, all to no avail. Its hard to get a prescription for OxyContin when you are taking three times as much daily as the average terminal cancer patient. It came to a point I had to check myself into our Government funded detox center, which unfortunately is really nothing more than a place where you can lay in a corner and detoxify and they will call an ambulance if you happen to die. That was the worst 10 days of my life coming off that horrible medication, Im very thankful I did not have an attack during that time as Im sure I would not survived it.
 However, I came out the other side as they say. And when I did, I threw every medication the doctor had me on away, and something very interesting happened. My attacks started to decrease. Instead of once every 4 to 6 weeks it became once every 8 to 10. Then once every 3 months or so, and then in December of 2010 I stopped having them at all.
 In fact, I felt great. Better than I had in 15 years, it seemed as if the disease had gone into full remission. Could Porphyria do that? None of the few doctors I remained seeing had any idea, and frankly I didnt care because I was basking in the glory of my newfound health!
 In 2012 I started a new career, in what was really a dream job for me. I was living a rock star like life, doing an incredible amount of traveling and interacting with a lot of very famous people. I was on top of the world. That is until 2013 when a trip to Montreal found me in the first attack I had been subject to since 2010. And then I had another. And another. And the cycle of attacks returned. The doctors at one point said that the shunt where I had my Gall Bladder removed had become infected and that it wasnt the disease flaring back up again. Again that proved to be just wishful thinking as the attacks continued, but mostly only when away on work trips.
 In the first few months of this year I had three consecutive attacks on three consecutive trips that wound up with me being hospitalized. I really didnt have a choice but to stop doing the travel portion of my job, which has been a very hard pill to swallow in this ongoing battle with this horrible disease, but really I had no option as it almost seemed that it was the flying that was causing the attacks. My coworkers and I have exhausted ourselves thinking of possibilities of what is causing the attacks to happen, and every lead has proven unjustified in the end.
 And now here I am. 20 years later and I really have no more answers than I did on the day of that first attack, besides having a name for what my condition is. I did have an incredible stroke of luck however as I was forced to have to replace my GP as I had not done that since my previous drug pusher vanished into the night. After trying a few I stumbled onto one where we really clicked. He took my case and has been the best doctor Ive ever encountered, very willing to work with me to find possible causes, and to ensure that my medication needs are accurate and monitored. In turn he has also referred me to an amazing GI specialist who has taken my case very seriously as well despite knowing nothing about Porphyria on the day I walked in to see him. He now has standing orders set up in my local ER to ensure I am treated properly while in attack, and is also fighting through the regulatory red tape to get me Heme treatments here in Canada.
 I would love to be able to say Ive kept my chin up throughout this entire ordeal, but that would be an outright lie. Ive gone through a lot of very dark depressive episodes during these past years, Im sure that is a very common bond with every sufferer of Porphyria. In truth this is one of those diseases that I would never wish upon anyone, no matter how much I may dislike them.
 And thats my AIP story in all its gritty glory and longwinded detail. There are points Im not proud of, the permanent opioid addiction that I have while still requiring the use of them for pain. The times Ive thought that it would be easier to end it all. I honestly thought about omitting those facts in this story, but then reconsidered as Im sure that a few or more fellow patients reading this will probably be able to relate to those issues.
 If I could offer one piece of advice to any fellow Porphyria patient it would be to surround yourself with people that truly care about you. I am very lucky in the fact that since the recurrence I have a very strong support network in the coworkers I have mentioned previously. They are truly my rock, and its vitally important to have those sorts of people to help you through the low periods that are bound to occur whether you want them to or not.
 I leave you with this quote by Maya Angelou;
                I can be changed by what happens to me. But I will not be reduced by it.
 ~ Shayne Henkelman, AIP

                          "Remember.Research is the key to your cure!"

Dont Forgot To MOO'VE it

Tuesday - August 25, 2015 @ 10:30:00

  The "MOVE IT IN THE MOONLIGHT RUN" In Burlington, NC on August 28, 2015

The location of the run is now determined: Chick-fil-A University Commons at 1477 University Dr. Burlington, NC 27215
Please register and join the awareness run. It was organized at night so that people with photosensitive porphyrias can participate too.
You can find out more details and information about the run on the website:

 "Remember.Research is the key to your cure!"

Bent Rods Bass Club Fundraising & The Barrel Race in Vernon, TX

Monday - August 24, 2015 @ 10:30:02

Bent Rods Bass Club Fundraising
We invite you to the Bent Rods Bass Club for the fundraising tournament. Bent Rods Bass Club strongly believes in giving back and in the Karma of helping others, so each year they pick a new Charity to support. For 2015 they have picked the APF.  For fundraising event they will be hosting the Bent "mini" Rods Challenge and raffling off a custom built bait casting rod & reel.
Please watch the video:
Location:  Deep Lake, Lake Villa, IL.  Jack & Lydia's Resort.
Entry Fees: $20 per angler.
If you want to help us give back and buy a raffle ticket for the custom rod, contact the treasurer:

The Barrel Race in Vernon, TX
We also would like to remind you about the upcoming undertaking from the Cook family. As you may know, the Cook brothers, Cason and Caul, have EPP and have set a great example about enhancing awareness of the disease in their local area. They have been hosting a Hat Day for many years in their home town of Vernon, TX. This year, in addition to a Hat Day, Cason & Caul are hosting The Shadow Race (benefit barrel race) in Vernon, TX in November.  They are getting some t-shirts together to sell as well. We appreciate all your support in raising awareness!

"Remember..Research is the key to your cure!"

From NIH- A must Read

Friday - August 21, 2015 @ 10:30:02

From NIH  A Must READ


Porphyrias are a group of rare disorders passed down through families. An important part ofhemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.


Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with porphyria are lacking certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body.
There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).
Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.


Porphyrias involve three major symptoms:
  • Abdominal pain or cramping (only in some forms of the disease)
  • Sensitivity to light that can cause rashes, blistering, and scarring of the skin (photodermatitis)
  • Problems with the nervous system and muscles (seizures, mental disturbances, nerve damage)
Attacks can occur suddenly. They often start with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. The scarring may be disfiguring. Urine may turn red or brown after an attack.
Other symptoms may include:
  • Muscle pain
  • Muscle weakness or paralysis
  • Numbness or tingling
  • Pain in the arms or legs
  • Pain in the back
  • Personality changes
Attacks can sometimes be life threatening, producing:
  • Low blood pressure
  • Severe electrolyte imbalances
  • Shock

Exams and Tests

Your doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks or others) do not work properly.
Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.
Some of the other tests that may be done include:


Some of the medicines used to treat a sudden (acute) attack of porphyria may include:
  • Hematin given through a vein (intravenously)
  • Pain medication
  • Propranolol to control the heartbeat
  • Sedatives to help you feel sleepy and less anxious
Other treatments may include:
  • Beta-carotene supplements
  • Chloroquine
  • Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins
  • Removal of blood (phlebotomy)
Depending on the type of porphyria you have, your doctor may tell you to:
  • Avoid all alcohol
  • Avoid drugs that may trigger an attack
  • Avoid injuring the skin
  • Avoid sunlight as much as possible and use sunscreen when outside
  • Eat a high-carbohydrate diet

Outlook (Prognosis)

Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Getting proper treatment and staying away from triggers can help lengthen the time between attacks.

Possible Complications

When to Contact a Medical Professional

Get medical help as soon as you have signs of an acute attack. Talk to your doctor about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.


Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

Alternative Names

Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria


Anderson K. The porphyrias. In: Goldman L, Schafer AI, eds.Goldman's Cecil Medicine
Fuller SJ, Wiley JS. Heme biosynthesis and its disorders. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, eds.Hematology: Basic Principles and Practice

Flash back from the New England Journal 1960 read and share

Tuesday - August 18, 2015 @ 14:45:14

Free Preview for The Problem of Porphyria  Some Facts and Questions
*The second annual Chester M. Jones Lecture, presented in part at the Massachusetts General Hospital, Boston, March 18, 1960.
From the Department of Medicine, University of Minnesota Medical School and Hospitals.
Aided by the John and Mary Briggs Fund for Porphyria Research, and under a contract with the Research and Development Command, Surgeon General's Office, United States Army.

This was provided by the New England Journal good to read and keep

Genetics 101: Basic genetics and inheritance of Porphyria

Tuesday - August 18, 2015 @ 10:30:00

Genetics 101:  Basic genetics and inheritance

In order to better understand the Porphyrias and how the disorders are inherited, it is helpful to understand some concepts of basic genetics and inheritance patterns.

DNA, Chromosomes, and Genes:

Deoxyribonucleic acid (DNA) is a nucleic acid that contains the instructions used in the development and functioning of all known living organisms and some viruses. DNA is often compared to a set of blueprints or a recipe or a code because it contains the instructions needed to make certain proteins, which are the complex molecules that do most of the work in our bodies. Each of these proteins has a specific function in the cell, and, ultimately in how the organism develops, its physical makeup, and how it functions day-to-day. The DNA segments that carry this genetic information are called genes. The size of each gene varies greatly, and there are about 20,000 genes that are distributed along the 23 pairs of chromosomes.
A DNA molecule is a twisted double-strand of building blocks, called nucleotides.  It is like a twisted ladder, with the vertical stringers made of phosphates and sugars and the rungs made of pairs of nucleotides. There are four nucleotides in DNA:  adenine (A), thymine (T), guanine (G), and cytosine (C). Also important is that on each rung of this ladder, A always pairs with T, and G always pairs with C. These nucleotides along the ladder are like letters in a word, and put together in their specific order make up the words in a detailed set of instructions. These instructions are read using a special code, called the genetic code.
GenGenome Management Information System,
Oak Ridge National Laboratory
DNA is a double helix formed by base pairs attached to a sugar-phosphate backbone.
Within cells, DNA is organized into long structures called chromosomes. A chromosome is like a cookbook with many recipes (or genes) that tell the body how to function. The human body is made up of trillions of cells and over 200 different cell types like various blood, liver, and brain cell types.  Each cell contains 46 chromosomes. Each chromosome can be identified by its relative size and location of the centromere, a constriction in the chromosome.

A Note from Dr Peter Tishler Office

Friday - August 14, 2015 @ 10:30:01

Hello dear members, we have an open letter from Dr. Peter Tishler to share with you.

To: Individuals with Acute Porphyrias, who are Members of American Porphyria Foundation
Subject: Communication to us the benefits of your medications

Dear Folks,
I have established the American Porphyria Foundation Drug Database, for you all to consult for drug safety (or not) when you are prescribed a new medication. I received information from many of you several years ago, and added lots of your information to the Drug Database. I write you now to ask you to report me the names and results of any drugs you have been taking since the beginning of 2013, so that I can compare your report with the Drug Database and hopefully add new information (OK! or BAD!) to the Database.
Please complete the attached table and send it to the American Porphyria Foundation at 4900 Woodway Dr. Ste 780, Houston, TX 77056, or copy this table and send it back to us via Email. Many thanks!

Medication Name
Date Started
Problem with Medication

Yes - Date
Yes - Nature of Problem