Other Important Treatment Considerations for the Acute Porphyrias

Other Important Treatment Considerations for the Acute Porphyrias

• Hospitalization is often necessary for acute attacks. Medications for pain, nausea, and vomiting, as well as close observation are generally required.
• A high intake of glucose or other carbohydrates can help to suppress disease activity and can be given by vein or by mouth.
• Attacks are often precipitated by low intake of carbohydrates and calories in an attempt to lose weight. Thus dietary counseling is very important.
• Premenstrual attacks often resolve quickly with the onset of menses. Hormone manipulations may prevent such attacks.
• Acute porphyria is particularly dangerous if the diagnosis has not been made and if harmful drugs are administered. The prognosis is usually good if the disease is recognized and if treatment and preventive measures are begun before severe nerve damage has occurred. Although symptoms usually resolve after an attack, some patients develop chronic pain. Nerve damage and associated muscle weakness can improve over a period of months or longer after a severe attack. Mental symptoms may occur during attacks but are usually not chronic.
• Wearing a MedicAlert bracelet is advisable for patients who have been diagnosed with porphyria.

Anderson KE. The porphyrias. In: Goldman L, Ausiello D, eds. Cecil Textbook of Medicine. Philadelphia, Pa: WB Saunders Co; 2004: chap. 223.

Bonkovsky HL, Healey BS, Lourie AN, Gerron GG. Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. Am J Gastroenterol. 1991;86:1050-1056.

Data on file, Recordati Rare Diseases, Inc.

Reimbursement

• Billing issues  Contact the hotline for assistance obtaining appropriate billing codes required on medical claims or if you need additional documentation to submit with your claims
• Insurance verification  The hotline representative will contact your insurance company to determine in advance how it will pay for the Recordati Rare Diseases product or related procedure in which you are interested
• Prior authorization support  The hotline representative can help facilitate the prior authorization process by determining requirements, coordinating paperwork, and following up on the final decision
• Insurer education  Representatives who staff the hotline can help educate insurers about Recordati Rare Diseases products to expedite coverage and payment
• Policy monitoring  The Program monitors public and private payor coverage policies to ensure you have the most up-to-date coverage information. Representatives will also answer any questions you have about insurance coverage and reimbursement related to Recordati Rare Diseases products.

HAPPY HOLIDAYS

May you enjoy your family and friends!

Global Genes is hosting the first-ever RARE in the Square event in San Francisco! See the announcement below for details! A Unique Partnering Opportunity for Rare Disease Innovators January 9th 11th, 2017

Alnylum Pharmaceutical UPDATE

Are you prepared for a widespread disease or epidemic?

In 2014, the Ebola virus spread rapidly throughout West Africa, making headlines around the world. 

• 

  How did you help people to understand the danger they faced?
  We sought to dispel fear and confusion by making special presentations at public places. In those presentations, we explained how the virus spreads and warned against unsafe practices.

• 

  What practical steps were taken?
  We used infrared thermometers to check the temperature of those arriving for meetings at our places of worship. Everyone carefully avoided unnecessary physical contact, such as shaking hands or hugging, and washed their hands frequently throughout the day. At strategic locations throughout the communities, handwashing stations were set up with a bleach solution.

• 

• 

  What happened if someone showed symptoms?
  Authorities were notified. Any individuals who had been in contact with an Ebola victim, had attended a funeral of a victim, or showed symptoms kept themselves isolated for 21 days, the commonly accepted maximum incubation period for the Ebola virus.

Protect Yourself From Disease

Protect Yourself From Disease

MANY ancient cities were protected by massive walls. If an enemy breached just a small section of a wall, the safety of the entire city was at risk. Your body is like a walled city. How you care for your defenses has much to do with how healthy you are. Consider five elements that can expose you to disease and how you can put up the best possible defenses.

1 WATER

THE THREAT: Harmful organisms can march straight into your body by way of contaminated water.

YOUR DEFENSE: The best defense is to protect your water supply from contamination. If you know that your water supply is contaminated or suspect that it is, you can treat the water at home to make it safe. * Store potable water in a closed vessel, and dispense it hygienically with a clean ladle or through a tap. Never put your hands into a clean water supply. If possible, you should try to live in a community that properly disposes of human waste so that it does not contaminate local water sources.

2 FOOD

THE THREAT: Harmful organisms can be present in or on your food.

YOUR DEFENSE: Contaminated food may look fresh and nutritious. So get into the habit of thoroughly washing all fruits and vegetables. Ensure that food utensils, kitchen surfaces, and your hands are clean when preparing or serving food. Some foods require cooking at a certain temperature in order to destroy dangerous microbes. Beware of food that is discolored or has an unpleasant odor or tastesigns that an army of microorganisms could be waiting for you. Refrigerate unused food as soon as possible. Avoid preparing food for others when you are sick. *

 3 INSECTS

THE THREAT: Some insects can infect you with the harmful microorganisms that live inside them.

YOUR DEFENSE: Limit contact with disease-carrying insects by staying indoors when they are active or by wearing protective clothing, such as long sleeves and long trousers. Sleep under treated insect nets, and use personal insect repellent. Eliminate containers of stagnant water where mosquitoes could breed. *

4 ANIMALS

THE THREAT: Microbes that live harmlessly inside an animal can threaten your health. If you are bitten or scratched by a pet or another animal or exposed to its feces, you could be at risk.

YOUR DEFENSE: Some people choose to keep their animals outside the house to minimize contact with them. Wash your hands after touching a domestic animal, and avoid all contact with wild animals. If you are bitten or scratched, wash the wound thoroughly and seek a doctors advice. *

5 PEOPLE

THE THREAT: Some germs can invade your body by riding on tiny droplets in someones cough or sneeze. They can also spread through skin contact, such as hugging or shaking hands. Microorganisms from other people may lurk on such items as doorknobs, handrails, telephones, remote controls, or computer screens and keyboards.

YOUR DEFENSE: Do not share personal items, such as razors, toothbrushes, or towels. Avoid contact with body fluids from animals or from other people, including blood and products derived from blood. And do not underestimate the benefits of washing your hands thoroughly and frequently. It is perhaps the most effective way you can stop the spread of infection.

If possible, stay home when you are sick. The U.S. Centers for Disease Control and Prevention recommends that you cough or sneeze into a tissue or your sleeve, but not into your hands.

An ancient proverb states: The shrewd one sees the danger and conceals himself. How true are those words today in a world plagued with potentially dangerous diseases! So inform yourself by consulting local health services, and conceal yourself from danger by practicing good hygiene. Bolster your defenses, and reduce the risk of disease!

DiseaseHow to Reduce The Risk

Every day your body wages war against enemies that are silent and unseen but potentially deadly. Foreign invaders, such as bacteria, viruses, and parasites, threaten your health. * You are not likely to be aware of those battles because your immune system repels or destroys most of the invaders before the onset of symptoms. Sometimes, however, the harmful germs gain the upper hand. If so, you may need to bolster your defenses with medicine and other treatments.

For thousands of years, people knew virtually nothing about the dangers of microscopic or other small harmful organisms. However, when 19th-century scientists confirmed the link between germs and disease, we became better equipped to defend ourselves. Medical researchers have since eliminated or greatly reduced the threat of some infectious diseases, including smallpox and polio. Recently, however, others, such as yellow fever and dengue, have made a comeback. Why? Consider these factors:

• Every year, millions of people travel around the globe, often transporting disease-causing agents. According to an article in the journal Clinical Infectious Diseases, virtually all of the contagious virulent infections can be spread by international travelers.
• Some bacteria have developed resistance to antibiotics. The world is heading towards a post-antibiotic era, in which common infections . . . can once again kill, states the World Health Organization.
• Civil unrest and poverty often hinder government efforts to control the spread of disease.
• Many people lack practical knowledge of how to prevent disease.

Despite these disturbing trends, there is much you can do to protect yourself and your family. The following will show that, even if you live in a developing land, simple and effective strategies may be within your reach.

EPP Online docket Question's for FDA

Following the FDA meeting for EPP that was held in October, the FDA opened an online public docket for EPP people to submit comments.  This docket is open to attendees of the meeting AND those that were unable to attend in person.  The FDA is particularly interested in hearing patients' perspectives on the questions discussed during the workshop.  These questions are pasted below for your reference.  If you have any questions, please email meghana.chalasani@fda.hhs.gov. Comments MUST be submitted by December 24, 2016.  Submit your comments through this website:  https://www.regulations.gov/document?D=FDA-2016-N-1493-0001.  The FDA has also posted a full recording of the EPP meeting.  You may view the recording here:  http://www.fda.gov/Drugs/NewsEvents/ucm501389.htm. Discussion Questions 1.  Of all the symptoms that you experience because of your condition, which 1-3 symptoms have the most significant impact on your daily life? (Examples may include itching, burning, pain, scarring, etc.) 2.   Are there specific activities that are important to you but that you cannot do at all or as fully as you would like because of your condition? (Examples of activities may include daily hygiene, work and school performance, participation in sports or social activities, etc.) 3.    How have your condition and its symptoms changed over time? 4.   What are you currently doing to manage your condition or its symptoms? (Examples may include prescription medicines, phototherapy, over-the-counter products, and other therapies including non-drug therapies such as limiting exposure to sun, diet modification, etc.) a.     What specific symptoms do your therapies address? b.    How has your treatment regimen changed over time, and why? 5.    How well does your current treatment regimen control your condition? a.     Would you define your condition today as being well managed? 6.    Assuming there is no complete cure for your condition, what specific things would you look for in an ideal treatment for your condition? a.   What would you consider to be a meaningful improvement in your condition (for example specific symptom improvements) that a treatment could provide? "Remember.Research is the key to your cure!"

AIP & Life story of Claire Sadoniczak

Claire Sadowniczak

Let's get Down on VP

Let's get to know more about VP!

What is Variegate Porphyria?

VP is caused by a mutation in the enzyme protoporphyrinogen oxidase (PPOX), which is part of the pathway that produces porphyrins and heme. Acute attacks are similar to those in AIP and HCP but are unusual. A more common sign of the disease is blistering skin lesions, which are chronic in many people with VP.

Acute attacks almost always start with severe pain in the abdomen but sometimes in the chest, back, or thighs, and are often accompanied by nausea, vomiting, and constipation. Heart rate and blood pressure are commonly increased. These symptoms and signs are all due to the effects of the disease on the nervous system. Confusion, convulsions, and muscular weakness, due to impairment of the nerves controlling the muscles, may lead to paralysis. An acute attack usually lasts for days or weeks. Recovery from severe paralysis is generally slow.

Who gets Variegate Porphyria?

VP is especially common in South Africa in individuals of Dutch ancestry, where it has been estimated that 3 in 1,000 of the white population are affected. It is much less prevalent in other countries. Like AIP and HCP, it is an autosomal dominant disorder, meaning that a mutation is present in only one of the pair of PPOX genes.

What causes Variegate Porphyria?

As in HCP, acute attacks of VP are unusual except in the presence of environmental activating factors, such as drugs, hormones, and dietary changes. 

How is Variegate Porphyria Diagnosed?

Urine ALA and PBG are increased during attacks, but as in HCP, these may increase less and decrease more rapidly than in AIP. Plasma porphyrins are frequently increased in VP, in contrast to AIP and HCP, and the plasma of VP patients displays a distinctive fluorescence peak, which is diagnostic. Fecal porphyrins are also elevated and are predominantly coproporphyrin III and protoporphyrin.

What are treatments for Variegate Porphyria?

Management and prevention are the same as in AIP and HCP. Blistering skin lesions are much more common than in HCP and are not readily treated. The only effective preventive measure is use of protective clothing.

What is the long-term outlook after an attack of Vairegate Porphyria?

The prognosis is usually good if the disease is recognized and treated promptly, before nerve damage develops. Although symptoms usually resolve after an attack, recovery of neuromuscular function (in a severe case) may require several months. Mental symptoms may occur during attacks but are not chronic. Premenstrual attacks often resolve quickly with the onset of menses.

Can attacks be prevented?

Yes, particularly with regard to drugs and diet. Genetic VP carriers should become informed on medications to avoid (see information on AIP and HCP) and should be prepared to point their healthcare providers to on-line drug lists that are regularly updated. The American Porphyria Foundation offers a mobile phone app that pulls up this information on line (http://porphyriadrugs.com/). A Medic Alert bracelet is useful for a situation in which the patient is incapacitated. Very frequent premenstrual attacks can be prevented by a gonadotropin-releasing hormone (GnRH) analogue (Lupron, Zoladex, others) administered with expert guidance. In selected cases, frequent noncyclic attacks can be prevented by once- or twice-weekly infusions of hemin.

Individuals who are prone to attacks should consume a normal balanced diet. Despite on-line discussion, there is no evidence that pushing carbohydrate prevents attacks, and it has the side effect of weight gain, which is undesirable for most people. Fasting, fad diets (for example, high protein) and gastric reduction surgery should be avoided. If weight loss is desired, it is advisable to consult a physician and a dietitian about an individualized diet with modest caloric restriction (ca. 10%), which will produce gradual weight loss without increasing the risk of an attack of porphyria. Exercise is safe in porphyria, and recommended.

EPP Fabian family takes on Orlando FL Vacation

Third day, VERY SUNNY, but we set this day to go to Hollywood Studios and the Magic Kingdom we took Uber and ventured to Hollywood Studios in the morning and afternoon.   We stopped at Guest Services again, a VERY nice young man told us we really didnt need the doctors pass.  We would just tell the worker in whatever line that we needed to go to the front.  We had 3 Fast Passes that I scheduled our times in advance on the APP on my phone and it synced with our tickets.  All 3 of these rides/events were inside.  There were many shady areas, stores, and outdoor seating with shade.  We werent there for kid rides and such and we planned exactly what we wanted to do for the most part.  For us, we had no need to go to the head of any Fast Pass lane we were in.

 

Porphyria News Save the Dates!

APF Meeting Hosted by Evelyn Jacobucci Information

APF member, Evelyn Jacobucci, will be hosting the next Patient Education Meeting on Friday, November 18, 2016 from 5:30-7:30 PM MST. You are welcome to bring your friends and family, but please be sure to RSVP to the APF or directly to Evelyn at 303-989-2073 or ejb2003@live.com.

ALL USA PORPHYRIA PATIENTS Enrollment for Longitudinal Study

ALL USA Porphyria patients.

{Here you can join the contact registry. Once you join the RDCRN Contact Registry, you will receive emails with information about current research studies for your disease. In these emails, you will be given information about how to join the research study. You will also be able to contact the researchers to ask any questions about the study.}

Gail Hubler & AIP Story

2nd Annual "Moo've It In The Moonlight" Run

RSVP now for the 2nd Annual "Moo've It In The Moonlight" Run in Burlington, NC happening THIS SATURDAY at 6:00PM.  APF member, Shawn Willis, will be hosting this event in the evening to highlight the challenges of those with light sensitivity.  There will be a 5K AND a 1 Mile Untimed Fun Run and proceeds from the race will benefit the APF.  Don't forget to RSVP online today!! Cox Toyota 3860 Danbrook Road Burlington, NC 27215 RSVP:   http://cfaraceseries.com/races/205/    "Remember.Research is the key to your cure!"

Jason shares his Life about EPP and his new blog!

My name is Jason Barrett, and I was diagnosed with Erythropoietic Protoporphyria when I was 11 years old.

My story is similar to many others shared by those who live with EPP.  I to have become intimately acquainted with the confusion, frustration, social isolation, and pain, as well as the undeserved feelings of guilt, depression, self-doubt, fear, and shame that are so common in the lives of those touched by this rare disorder.

I have carved a good, happy life for myself around the challenges that I face. I have beautiful young children who bring me joy and just accept that Daddy wears a hat. My wife trusts and believes in me, and together we purchased a wonderful home in a lovely neighborhood. I excel at my chosen profession in the electrical field despite the difficulties associated with being a working disabled person. I love cloudy or stormy weather and the twilight hours, and I use such time to enjoy the outdoors as much as I can.

When I had each of my children, I wondered what they would think of me and the difficulties I have faced. Would they know how strong I have had to be, or would they see me as a masked weirdo standing on the shady sidelines? It took a lot of thought, but I eventually decided to write about my experiences and perceptions in the hope that they might see the world through my eyes one day and understand.

Privately locking these things away for only my immediate family to someday read seemed somehow wrong. I remembered the fear I felt as a child as my family and I blundered through ignorance as though I was the first person ever to handle this type of situation. I remembered how lonely and alien I felt. I know that there are families still struggling through ignorance, who may feel that they are the first, who may feel alone and alien.

In September 2016, after I received a letter from the American Porphyria Foundation, I mustered up the courage to start a blog about being alive while experiencing EPP. I write about perceptions and experiences that I hope can be useful, uplifting, and insightful to my family, and to any stray reader who happens along.

EPP comes with sadness and pain, and sometimes those are the only things I feel. But there is also happiness and humor in my life. I want to share that living in darkness doesn't have to mean living in perpetual gloom. I am just weathering the storm of life as best I can like anyone else.

If you feel alone or alien because of your affiliation with EPP, know at least that youre not the first, just like I learned I wasn't the first, to have experienced this disorder. Even if you dont believe it now, you can create happiness and hope in your world. If there is anything EPP can teach us, it is that we all can learn to find joy and beauty in a storm.

Storms are in the eye of the beholder.

Clinuvel Information

CLINUVEL PHARMACEUTICALS LTD [ASX: CUV; Nasdaq International Designation ADR: CLVLY; Xetra-DAX: UR9] today announced that it will meet with the US Food and Drug Administration (FDA) on 7 November to formally discuss lodging its new drug application (NDA) for the novel drug SCENESSE (afamelanotide 16mg). The pre-NDA meeting will focus on finalising requirements for filing SCENESSE with the FDA for the treatment of adult patients with the rare genetic disorder erythropoietic protoporphyria (EPP). 

This is the last step required of CLINUVEL before we ask the FDA to review the risk-benefit profile of SCENESSE in a submitted dossier, CLINUVELs Acting Chief Scientific Officer, Dr Dennis Wright said. A successful risk-benefit review will enable CLINUVEL to make the drug available to US EPP patients.

The pre-NDA meeting, with the FDAs Division of Dermatology and Dental Products (DDDP), is part of ongoing dialogue between CLINUVEL and the FDA since CLINUVEL commenced a clinical program for EPP in 2006. 

Earlier this year the FDA granted SCENESSE Fast Track designation, enabling among other benefits a rolling review of the NDA dossier. The FDA also completed an initial review of CLINUVELs clinical data package, deeming it satisfactory and sufficient for NDA submission. On 24 October the DDDP will host an EPP Workshop to obtain the patients and physicians perspective on certain disease areas, including the effectiveness of treatments.

SCENESSE is the first treatment ever evaluated in contemporary clinical trials for EPP. The drug provides photoprotection to EPP patients who suffer from acute reactions to visible light and sun (phototoxicity). In 2014 SCENESSE was approved in Europe for the prevention of phototoxicity in adult EPP patients, with the drug now prescribed in a number of European countries.
 
It has always been our goal to make the drug available to US EPP patients, and it has become more pressing now that the drug is available in Europe, CLINUVELs Global Director, Regulatory Affairs, Ms Nicoletta Muner said. In recent months our dialogue with the FDA has intensified as the agency sought to learn more about our program and as the product is being distributed internationally. We look forward to the next steps in the review of SCENESSE.

Accused of Being a Hypochondriac, Lisa is Finally Diagnosed with Acute Intermittent Porphyria- Global Genes

A swollen stomach made her look pregnant, but the pain burning, shocking, horrible, out-of-this world, as she describes it was worse than childbirth, leaving her doubled over and gasping for breath. Symptoms came and went, seemingly at random. Vomiting. Constipation. High blood pressure. A racing pulse. Numbness in her hands. Paralysis in her right foot.

Lisa Kehrberg spent several days in a hospital, but every test came back normal. And the doctors began to wonder if perhaps she had been under a lot of stress lately.

As a physician herself a specialist in pain management, as a matter of fact Kehrberg knew how to translate that question: Theres really nothing wrong with you.

Actually, no, she told the doctors. She hadnt been under stress. Im really sick right now. Can you help me?

You need to calm down, one health-care worker told her. Go home. Take it easy. And pull yourself together.

Kehrberg had been sick before. The first bout came 22 years ago, when she was going to high school in Bartlesville. Another one hit during college, when she was briefly hospitalized with abdominal pain. But it wasnt until September 2013, while she was working as a doctor for U.S. Department of Veterans Affairs in Chicago, that Kehrberg finally demanded answers.

Released from one Chicago hospital without a diagnosis, she checked into another one. Did the doctors there think she was a hypochondriac?

Yeah, Im sure they did, she said. Doctors are too quick to give up. Its stress. Its your imagination. Its not as bad as youre saying it is. They dont want to believe that theres something wrong with you if they dont know what it is.

The second hospital did all the usual tests, with the same results. Normal. Why not try something different?

Its almost a cultural thing for doctors, she said. Its looked down upon to start testing for rare diseases. Nobody wants to look like theyre grasping for answers. It cant be that, so it must be your imagination.

Kehrberg remained undiagnosed until a hospital nurse noticed that her urine had turned dark brown, a classic symptom of a rare genetic disorder called Acute Intermittent Porphyria, by some estimates afflicting less than 0.0001 percent of the population.

Kehrberg had heard of it herself but never considered the possibility. While not curable, the disease can be controlled to some extent by diet and medication.

More than a year later, Kehrberg now speaks as an advocate for people with Porphyria and other rare conditions. And she came back to Oklahoma recently for a fundraiser at her parents ranch near Pawhuska.

Her message to patients: Speak up. Trust your instincts. Demand answers.

And to physicians: Listen to people and believe what they are telling you. There arent a lot of hypochondriacs walking around out there. There are a lot of sick people who need help.

SOURCE Article by Michael Overall.

Important Things To Know Before The FDA Meeting For EPP On MONDAY

The FDA Meeting for EPP is Less Than 3 Weeks Away!

The FDA Meeting for EPP is Less Than 3 Weeks Away! The APF is busy preparing for the upcoming EPP meeting at the FDA on October 24th, 2016.  We are very excited about the large number of attendees and hope even more people RSVP to us in the coming weeks. When registering for the FDA meeting, there is an option to indicate if you are interested in participating in a panel.  If you have signed up to participate in the panel during the meeting, you should have received an email with a list of discussion questions from Meghana Chalasani (FDA meeting coordinator), in addition to your registration confirmation email.  These questions must be answered and returned to Ms. Chalasani. The deadline to submit your answers for the panel has expired. You will be notified of your panel status at least 1 week in advance of the meeting.  If you have signed up to speak at the panel, but did not receive the follow up email from Ms. Chalasani, then you are not being considered for the panel.  You must contact Ms. Chalasani to receive the questions. **PLEASE let the APF know if you are selected for the panel.  If you are still unsure whether or not you can attend this important meeting, feel free to contact Jessica@porphyriafoundation.org with any questions/comments you have.  We are excited to meet everyone in a few short weeks! As a reminder, the deadline to register for the FDA Meeting in person OR via webcast is Monday, October 17th, 2016!   If you are not registered, you cannot attend the meeting, so be sure to register ASAP!  Visit this website for registration: https://www.eventbrite.com/e/scientific-workshop-for-erythropoietic-protoporphyria-epp-registration-24971245668.  "Remember.Research is the key to your cure!"

Taking Notes and Recording Your Visit

• Write down a list of specific questions.

• Bring someone to the appointment with you to listen, take notes, and record the visit.

• Verbally summarize the instructions for the doctor or the nurse

• Ask pointed questions such as: "can you please review with me again what I need to know about getting Porphyria testing done right?"

Your Stories

YOUR STORIES- Are you a porphyria survivor or know someone with an inspiring story to tell? How has porphyria affected you or your loved ones?

Your story will be made available in a published blog and the upcoming 2017 Porphyria Awareness Week. Please email me your type & name with what you want to share Amy.apf@gmail.com

A journey to successful protection with Scenesse. #SuccessWithScenesse

Do you know about EPP or XLP

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria (EPP) or Protoporphyria

Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.  EPP can result either from mutations of the ferrochelatase gene (FECH), or less commonly the delta-aminolevulinic acid synthase-2 gene (ALAS2).  When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found on the X chromosome. 

Protoporphyrin accumulates first in the bone marrow in EPP, and then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It is not soluble in water so is not excreted in the urine. 

EPP is the third most common type of porphyria, and the most common in childhood.  It causes very painful photosensitivity and can greatly impair quality of life.  Delay in diagnosis is greater than with any other type of porphyria. 

Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight, including sunlight that passes through window glass. This can cause mild to severe burning pain on sun-exposed areas of the skin.  Usually, these symptoms subside in 12 to 24 hours and heal without significant scarring. Blistering and scarring are characteristic of other types of cutaneous porphyria but are unusual in EPP.  Skin manifestations generally begin early childhood and are more severe in the summer.

There is an increased risk of gallstones, which contain protoporphyrin. Excess protoporphyrin can also cause liver damage.  Less than 5% of EPP patients severe liver damage and a condition caused protoporphyric hepatopathy that sometimes requires liver transplantation. 

Diagnosis and Genetic Counseling

EPP should be suspected in anyone with non-blistering photosensitivity especially when it is prolonged and beginning in childhood.  It is easy to make a diagnosis, or rule it out, once it is suspected. 

The diagnosis of EPP is established by finding an abnormally high level of total erythrocyte protoporphyrin, and showing that this increase is mostly free protoporphyrin rather than zinc protoporphyrin.  There is considerable confusion about which test to order.  Sometimes laboratories have measured only zinc protoporphyrin and reported results incorrectly as protoporphyrin or free erythrocyte protoporphyrin (FEP).  Laboratories that measure total erythrocyte protoporphyrin, free protoporphyrin and zinc protoporphyrin and report results reliably are:

• Porphyria Laboratory and Center, University of Texas Medical Branch at Galveston, 1-409-772-4661
• Mayo Medical Laboratories, 1-800-533-1710 
• ARUP Laboratories

Porphyrins are almost always elevated in plasma in EPP, but may be normal in mild cases.  Fecal porphyrins may be normal or increased. 

An experienced biochemical laboratory can usually distinguish between patients with EPP and XLP, because the former have much less zinc protoporphyrin in their erythrocytes.  This can be explained because in the marrow the enzyme ferrochelatase not only normally makes heme (iron protoporphyrin) from protoporphyrin and iron, but can also make zinc protoporphyrin, especially when excess protoporphyrin is present or iron is deficient.  However, this does not replace DNA studies. 

Rarely, EPP develops in adults in the presence of a bone marrow disorder such as polycythemia vera, and is due to expansion of a clone of red blood cell precursors in the marrow that is deficient in ferrochelase. 

DNA studies are important for confirming the diagnosis of EPP and XLP and for genetic counseling.  This should be completed first in a person known to have the disease, and the information about the mutations in that individual used to guide testing of family members. 

When EPP is due to a FECH mutation the inheritance is described as autosomal recessive.  It is most common to find that one severe mutation is inherited from one parent and another weak mutation inherited from the other parent.  The weak mutation is quite common in normal Caucasians, rare in Blacks and even more common in Japanese and Chinese populations.  This mutation is sometime referred to as hypomorphic because it results in formation of a less than normal amount of ferrochelatase.  But is does not cause EPP unless it is paired with a severe mutation.  The severe mutation is characteristic for an EPP family and is present in all affected individuals.  Carriers of the severe mutation are not affected because they do not have the weak mutation.  Affected individuals and unaffected carriers can transmit the severe mutation to the next generation.  Some of their children will have EPP if the other parent has a copy of the weak mutation.  Rarely, the weak mutation is absent in an EPP family and two severe mutations are found, with at least one producing some ferrochelatase. 

In XLP, mutations of the ALAS2 gene, which is found on the X chromosome, causes an increase in the production of the enzyme ALAS2 in the bone marrow.  Several of these gain of function mutations have been described in different XLP families.  In XLP protoporphyrin production exceeds that needed for heme and hemoglobin formation.  Like hemophilia and other X linked genetic diseases, XLP is more common in men.  Women have two X chromosomes and are usually not affected because they have a normal as well as a mutated ALAS2 gene.  Men have only one X chromosome and will be affected if they inherit an ALAS2 mutation.  Women with an ALAS2mutation will, on average, pass that mutation to half of their daughters (who will usually be unaffected carriers) and to half of their sons (who will be affected). 

Treatment and Management

1.  Sunlight protection

Protection from sunlight is the mainstay of management of EPP, and this is necessary throughout life.  Disease severity and porphyrin levels in erythrocytes and plasma probably remain high and relatively constant throughout life in EPP.  However, this has been little studied and more longitudinal observations are needed.  Life style, employment, travel and recreation require adjustment in order to avoid painful reactions to sunlight and even from exposure to fluorescent lighting.  For these reasons EPP can substantially affect quality of life. 

Protective clothing, including broad-brimmed hats, long sleeves, gloves and trousers (rather than shorts), is beneficial.  Several manufacturers specialize on clothing made of closely woven fabrics for people with photosensitivity. 

2.  Beta-Carotene (Lumitene Tishcon)

Beta-carotene is an over the counter product that was originally developed in a purified form as a drug for the treatment of EPP, and was shown to be effective by Dr. Micheline Mathews-Roth at Harvard University and others.  The pharmaceutical grade formulation is now distributed by Tishcon as Lumitene, and can be ordered by calling 1-800-866-0978 or via the website www.epic4health.com.  Other products are less standardized and reliable and are not recommended. 

Beta-carotene provides protection by quenching reactive oxygen products that form when protoporphyrin is activated in the skin by light.  It is important to take an amount that is adequate to be protective.  For more information about Lumitene, including a recommended dosing schedule, please see the Lumitene section of this website.

3.  Other considerations

In an occasional patient, protoporphyrin causes liver problems, so monitoring liver function is important. EPP patients should also not use any drug or anesthetic which causes cholestasis (slowing down bile flow), and should also avoid alcohol. Women should avoid medications containing estrogen (birth-control pills, hormone replacement therapy), and men should avoid testosterone supplements, as these substances can also have deleterious effects on the liver of a person with EPP.

Consult a specialist.  Because EPP is a rare condition, most physicians are not knowledgeable about it.  Contact The American Porphyria Foundation, 713-266-9617 for contact with an expert and to provide further information.  A Medic Alert bracelet with instructions to contact a specialist if needed is a worthwhile precaution.

Yearly monitoring.  Testing to include erythrocyte total protoporphyrin, plasma porphyrin, complete blood counts, ferritin and liver function tests should be done yearly.  Porphyry levels are expected to be stable and liver tests to remain normal.  EPP patients may have evidence of iron deficiency, and an iron supplement may be advisable if the serum ferritin is below about 20 ng/mL. 

Vitamin D.  Because they avoid sunlight, EPP patients are likely to be deficient in vitamin D.  A vitamin D supplement with calcium is recommended for bone health. 

Liver protection.  It is important to avoid other causes of liver disease that might promote the development of liver complications from EPP.  Patients should avoid alcohol and other substances that might damage the liver, including many herbal preparations, and be vaccinated for hepatitis A and B. 

Surgical lights. Strong operating room lights can cause photosensitivity of the skin and even surfaces of internal organs.  Flexible membrane filters, such as CL5-200-X from Madico Co., are available to cover surgical lights and offer some protection.  This is especially important in EPP patients with liver failure, which causes even greater increases in protoporphyrin levels and photosensitivity. 

Drugs.  Drugs that are harmful in other porphyrias are not known to make EPP worse, but are best avoided as a precaution.  This may include estrogens and other drugs that might reduce bile formation.  A short course of a non-steroidal anti-inflammatory drug can provide some pain relief after an episode of photosensitivity, but can cause ulcerations of the digestive track especially with prolonged use. 

Laser treatment.  According to Dr. Roth, laser treatments for hair removal or eye surgery have not been a problem in EPP people.  But the doctor should be made aware of the diagnosis, and that laser output between 400 and 650 nanometers might be harmful. Before hair removal treatment, the doctor may irradiate a small area of the skin to be treated for the length of time it will take to do the hair removal to ascertain if the patient would react within the period of time that a reaction to sunlight would be expected in that patient.  

Children with EPP.  Avoiding sunlight can be difficult for children with EPP who have less sunlight tolerance than their friends.  Camp Discovery is an option for such children.  It provides a week-long summer camping experience of fishing, boating, swimming, water skiing, arts and crafts, and just plain fun for young people with skin disorders, and is sponsored by the American Academy of Dermatology.  Full scholarships, including transportation, are provided by the American Academy of Dermatology through generous donations of their members and other organizations. Members of the Academy are asked to recommend candidates for Camp Discovery, so ask your child's doctor about sending your child to Camp Discovery.

Clinuvel Pharmaceuticals is developing afamelanotide (Scenesse) for the treatment of EPP.  This drug is given by injection and increases skin pigmentation.  Another study of this drug is expected to open within the next year. 

All patients with porphyria are encouraged to enter the Porphyrias Registry at the Porphyrias Consortium website.  A link to this website is found on the website of the American Porphyria Foundation.  Registration demonstrates to NIH that patients and their families think that research on porphyrias is important.  You can also ask that one of the 6 porphyria center in the Consortium contact you.  

Additional Reading about EPP and below that is more info on XLP:

Erythropoietic Protoporphyria

NORD gratefully acknowledges Micheline M. Mathews-Roth, MD, Associate Professor of Medicine, Harvard Medical School, for assistance in the preparation of this report.

Synonyms of Erythropoietic Protoporphyria

• EPP
• Erythrohepatic Protoporphyria
• Protoporphyria

General Discussion

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After exposure to light, the skin may become itchy and red. Affected individuals may also experience a burning sensation on their skin. The hands, arms, and face are the most commonly affected areas. Some people with erythropoietic protoporphyria may also have complications related to liver and gallbladder function. Erythropoietic protoporphyria is inherited as an autosomal dominant genetic trait with poor penetrance.

Erythropoietic protoporphyria is one of a group of disorders known as the porphyrias. The porphyrias are all characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes essential to the synthesis of hemoglobin. There are at least seven types of porphyria. The symptoms associated with the various types of porphyria differ, depending upon the specific enzyme that is deficient. It is important to note that people who have one type of porphyria do not develop any of the other types.

Signs & Symptoms

The most common symptom of erythropoietic protoporphyria is hypersensitivity of the skin to sunlight and some types of artificial light (photosensitivity), with pain, itching, and/or burning of the skin occurring after exposure to sunlight and occasionally to fluorescent light. Affected individuals may also exhibit abnormal accumulations of body fluid under affected areas (edema) and/or persistent redness or inflammation of the skin (erythema). In rare cases, affected areas of the skin may develop sac-like lesions (vesicles or bullae), scar, and/or become discolored (hyperpigmentation) if exposure to sunlight is prolonged. However, scarring and/or discoloring of the skin is uncommon and rarely severe. These affected areas of skin may become abnormally thick. In addition, in some cases, affected individuals may also exhibit malformations of the nails. The severity and degree of photosensitivity is different from case to case. Photosensitivity is often seen during infancy; however, in some cases, it may not occur until adolescence or adulthood.

In some affected individuals, the flow of bile through the gallbladder and bile ducts (biliary system) may be interrupted (cholestasis) causing gallstones (cholelithiasis) to form. In turn, such stones can cause obstruction and/or inflammation of the gallbladder (cholecystitis). Rarely, affected individuals may also develop liver damage that, in very severe cases, may lead to liver failure requiring transplantation.

Symptoms usually start in childhood but diagnosis is often delayed since blistering is not common and, because the porphyrins are insoluble, they usually escape detection on urinanalysis. The diagnosis is made upon finding increased levels of the protoporphyrin in the plasma or red blood cells.

Causes

Erythropoietic protoporphyria is a rare disorder inherited as an autosomal dominant genetic trait with poor penetrance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed dominating the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. The risk is the same for each pregnancy.

The symptoms of erythropoietic protoporphyria develop due to excessive levels of a chemical called protoporphyrin that accumulates in certain tissues of the body (i.e., the plasma, red blood cells, and the liver). Excessive protoporphyrin levels occur as the result of abnormally low levels of the enzyme ferrochelatase (FECH).

There are several different allelic variants of erythropoietic protoporphyria. An allele is any of a series of two or more genes that may occupy the same position (locus) on a specific chromosome. Symptoms of these allelic variants of erythropoietic protoporphyria are predominantly the same; however, one type may be inherited as an autosomal recessive genetic trait.

The gene that is responsible for regulating the production of the enzyme ferrochelatase (FECH) has been located on the long arm of chromosome 18 (18q21.3). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q.

Some people who have inherited this defective gene may have slightly elevated levels of protoporphyrin in the body but will not exhibit the symptoms of erythropoietic protoporphyria.

Affected Populations

Erythropoietic protoporphyria is a very rare inherited disorder that affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 74,300 individuals. The onset of symptoms affecting the skin usually occurs in infancy; however, in some cases, onset may not occur until adolescence or adulthood. More than 300 cases of EPP have been reported in the medical literature.

Related Disorders

Symptoms of the following disorders can be similar to those of EPP. Comparisons may be useful for a differential diagnosis:

There are several other types of porphyrias, all of which involve deficiencies of specific enzymes. Most of the symptoms of these porphyrias are not similar to the symptoms found in erythropoietic protoporphyria. Individuals with porphyria cutanea tarda and congenital erythropoietic porphyria may develop skin lesions; however, these lesions do not resemble the skin lesions found in EPP. It is important to note that individuals with one type of porphyria do not develop any of the other types. In addition, there are skin disorders characterized by hypersensitivity to artificial light and sunlight besides EPP, such as xeroderma pigmentosum and epidermolysis bullosa. The skin lesions in these disorders do not resemble the skin lesions in EPP. (For more information on these disorders, choose Porphyria and Epidermolysis Bullosa as your search terms in the Rare Disease Database.)

Xeroderma pigmentosum (XP) is a group of rare inherited skin disorders characterized by hypersensitivity of sunlight and some types of artificial light, with skin blistering occurring after such exposure. In some cases, pain and blistering may occur immediately after contact with sunlight or artificial light. Acute sunburn and persistent redness or inflammation of the skin (erythema) are also early symptoms of xeroderma pigmentosum. In most cases, these symptoms may be apparent immediately after birth or occur within the next three years. Other skin symptoms of xeroderma pigmentosum may include discolorations of the skin, weak and fragile skin, and/or scarring of the skin. Xeroderma pigmentosum also affects the eyes; the most common symptom being an extreme intolerance to light (photophobia). Additional symptoms may include some neurological impairments, short stature, an increased susceptibility to some forms of cancer (e.g., skin cancer). There are several types of xeroderma pigmentosum; in most cases, XP is inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose Xeroderma Pigmentosum as your search terms in the Rare Disease Database).

Diagnosis

The diagnosis of erythropoietic protoporphyria (EPP) may be made by a thorough clinical evaluation, characteristic physical findings, and specialized laboratory tests. EPP is usually diagnosed during infancy or early childhood, due to characteristic skin symptoms. The diagnosis may be confirmed by testing the red blood cells (erythrocytes) for increased levels of protoporphyrin.

Standard Therapies

Treatment

Avoidance of sunlight will be of benefit to individuals with erythropoietic protoporphyria. The use of topical sunscreens, double layers of clothing, long sleeves, hats, and sunglasses will also benefit photosensitive individuals. Individuals with EPP may also benefit from window tinting or using vinyls or films to cover the windows in their car or house. Before tinting or shading car windows, affected individuals should check with their local Registry of Motor Vehicles to ensure that such measures do not violate any local codes.

In erythropoietic protoporphyria, a high potency form of oral beta-carotene (Lumitene, Tishcon) may be given to improve an affected individual's tolerance of sunlight. For more information on this treatment, contact the organizations listed at the end of this report (i.e., American Porphyria Foundation and the EPPREF) and Mr. George McShane of the Tishcon Corp. (1-800-848-8442). In some cases, the drug cholestyramine may be given to alleviate skin symptoms and lower the protoporphyrin levels in the body.

When iron deficiency is present, iron supplements may be given. A type of bile acid (chenodeoxycholic acid) may be prescribed to help the liver dispose of excess protoporphyrin, and activated charcoal or cholestyramine may be used to interrupt the circulation of protoporphyrin through the liver and intestines.

Estrogens and drugs that can impair bile flow should be given cautiously under the supervision of a physician. In addition, individuals with high levels of protoporphyrin in the plasma and red blood cells should be observed closely by a physician for possible liver malfunction that could eventually lead to liver failure.

Genetic counseling will be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

The orphan product L-Cysteine is being tested for the prevention and reduction of photosensitivity in erythropoietic protoporphyria. More research is needed to determine the long-term safety and effectiveness of this drug for the treatment EPP. For more information, contact:

Micheline M. Mathews-Roth, M.D.

Channing Laboratory

Harvard Medical School

181 Longwood Ave

Boston, MA 02115-5804

(617) 525-8249

Red blood cell transfusions have also been used to treat some people with EPP. In some affected individuals with severe liver disease, liver transplantations have been performed. Extreme caution should be used by physicians considering these treatment options; each particular case should be evaluated on its own merits.

Hereditary Coproporphyria. (HCP) Porphyria Expert Dr. Bissell

Hereditary Coproporphyria.

Excerpt

CLINICAL CHARACTERISTICS:

Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility.

DIAGNOSIS/TESTING:

The most sensitive and specific biochemical screening test for any one of the acute porphyrias (including HCP) during an acute attack is a striking increase in urinary porphobilinogen (PBG). Quantitative analysis of porphyrins in both urine and feces is essential to distinguish between the different acute porphyrias and establish the diagnosis of HCP. Identification of a heterozygous pathogenic variant inCPOX (encoding the enzyme coproporphyrinogen-III oxidase) confirms the diagnosis and enables family studies.

MANAGEMENT:

Treatment of manifestations: Acute attacks are treated by discontinuation of any medications thought to induce attacks, management of dehydration and/or hyponatremia, administration of carbohydrate, and infusion of hematin. Treatment of symptoms and complications should be with medications known to be safe in acute porphyria (see www.drugs-porphyria.org). A minority of affected individuals experience repeat acute attacks, in which case management strategies include suppression of ovulation in females, prophylactic use of hematin, and liver transplantation when attacks and neurologic complications persist despite multiple courses of hematin. Prevention of primary manifestations: Agents or circumstances that may trigger an acute attack (including use of oral contraception in women) are avoided. Suppression of menses using a GnRH agonist (leuprolide, nafarelin, and others) may help CPOX heterozygotes who experience monthly exacerbations. Prevention of secondary complications: In CPOX heterozygotes undergoing surgery, intravenous glucose is provided in the perioperative period and non-barbiturate agents are used for induction of anesthesia. Agents/circumstances to avoid: Fasting, use of female reproductive hormones, and certain drugs including barbiturates and phenytoin. Evaluation of relatives at risk: If the family-specific CPOXpathogenic variant is known, clarification of the genetic status of relatives at risk allows early diagnosis of heterozygotes and education regarding how to avoid risk factors known to be associated with acute attacks.

GENETIC COUNSELING:

HCP is inherited in an autosomal dominant manner with reduced penetrance. Most individuals with HCP have an affected parent; the proportion with a de novo pathogenic variant is unknown. Each child of an individual with HCP has a 50% chance of inheriting the CPOX pathogenic variant. Because of reduced penetrance, many individuals with a CPOX pathogenic variant have no signs or symptoms of HCP. Prenatal diagnosis for pregnancies at increased risk is possible if the pathogenic variant in an affected family member is known.

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

PCT- Clinical Presentations

The common acquired form, sporadic porphyria cutanea tarda, occurs in individuals whose UROD DNA sequences are normal, but who may have other genetically determined susceptibilities to inhibition of UROD activity. Acquired porphyria in large populations exposed to polyhalogenated aromatic hydrocarbon hepatotoxins has been referred to as "epidemic porphyria cutanea tarda. Hepatic tumors producing excess porphyrins are rare causes of porphyria cutanea tardalike disorders.

Lina Rebeiz and her personal journey with AIP

After another two weeks, I again became malnourished -- but this time I also became delusional. My blood pressure had risen so high and my sodium had dropped so low that I suffered two seizures. During this episode, all I remember is the recurring feeling of insanity. I experienced mild hallucinations paired with strong delusions, and I always felt confused and scared. I had a constant feeling of worry, but not about anything concrete. Though it sound ridiculous now, I felt like something abstract, perhaps a monster, was out to get me.

Learning about Porphyria

Learning about Porphyria

• What is porphyria?
• What are the signs and symptoms of porphyria?
• How is porphyria diagnosed?
• How is porphyria treated?
• What do we know about porphyria and heredity?
• What triggers a porphyria attack?
• How is porphyria classified?
• What are the cutaneous porphyrias?
• What are the acute poyphyrias?
• NHGRI Clinical Research in Porphyria
• Additional Resources for Porphyria
• Online Resources for Specific Porphyrias

What is porphyria?

What are the signs and symptoms of porphyria?

• Alcohol
• Smoking
• Certain drugs, hormones
• Exposure to sunlight
• Stress
• Dieting and fasting

How is porphyria diagnosed?

How is porphyria treated?

What do we know about porphyria and heredity?

What triggers a porphyria attack?

How is porphyria classified?

What are the cutaneous porphyrias?

• Congenital erythropoietic porphyria [ghr.nlm.nih.gov]

  • Gene: UROS [ghr.nlm.nih.gov]

• Erythropoietic protoporphyria [ghr.nlm.nih.gov]

  • Gene: FECH [ghr.nlm.nih.gov]

• Hepatoerythropoietic porphyria [ghr.nlm.nih.gov]

  • Gene: UROD [ghr.nlm.nih.gov]

• Hereditary coproporphyria [ghr.nlm.nih.gov]

  • Gene: CPOX [ghr.nlm.nih.gov]

• Porphyria cutanea tarda [ghr.nlm.nih.gov]

  • Gene: UROD [ghr.nlm.nih.gov]
  • Gene: HFE [ghr.nlm.nih.gov]

• Variegate porphyria [ghr.nlm.nih.gov]

  • Gene: PPOX [ghr.nlm.nih.gov]

What are the acute porphyrias?

• Acute intermittent porphyria [ghr.nlm.nih.gov]

  • Gene: HMBS [ghr.nlm.nih.gov]

• ALAD deficiency porphyria [ghr.nlm.nih.gov]

  • Gene: ALAD [ghr.nlm.nih.gov]

NHGRI Clinical Research in Porphyria

• Current NHGRI Clinical Studies
• Search all studies on Clinical Trials.gov for Porphyria [clinicaltrials.gov]
• Clinical Research FAQ

Additional Resources for Porphyria

• Porphyrias [merck.com]
  Information about porphyria from the The Merck Manual 2nd edition
   
• Porphyria Information [digestive.niddk.nih.gov]
  An information page developed by the National Digestive Diseases Information Clearinghouse
   
• Genetics Home Reference: Porphyria [ghr.nlm.nih.gov]
  An overview page on the porphyrias.
   
• Porphyria [rarediseases.info.nih.gov]
  Information from the Genetics and Rare Diseases Information Center.
   
• Finding Reliable Health Information Online
  A listing of information and links for finding comprehensive genetics health information online.

Foundations and Associations

• American Porphyria Foundation: Laboratory Testing for Porphyria [porphyriafoundation.com]
• The British Porphyria Association [porphyria.org.uk]
• European Porphyria Initiative [irondisorders.org]
• Iron Overload Diseases Association [ironoverload.org]
• American Liver Foundation [liverfoundation.org]

Online Resources for Specific Porphyrias

Cutaneous Porphyrias

• Congenital erythropoietic porphyria
• Erythropoietic protoporphyria
• Hepatoerythropoietic porphyria
• Hereditary coproporphyria
• Porphyria cutanea tarda
• Variegate porphyria

Acute Porphrias

• Acute intermittent porphyria
• ALAD deficiency porphyria
• Congenital erythropoietic porphyria
• Erythropoietic protoporphyria
• Hepatoerythropoietic porphyria
• Hereditary coproporphyria
• Porphyria cutanea tarda
• Variegate porphyria
• GeneReviews acute intermittent porphyria [genetests.org]

EPP FDA Announcement Hotel Info

Chicago Patient Education Meeting

Happy First Day Of September

Key Terms- How do they relate to porphyria? Check the article at this link: http://www.encyclopedia.com/topic/Porphyrias.aspx

Rare Disease United Foundations Beyond the Diagnosis Art Exhibit

We would like to share that Rare Disease United Foundation's Beyond the Diagnosis Art Exhibit will be the headline story on CBS News Sunday Morning with Charles Osgood airing this Sunday, August 28th at 9:00am EST. We are very excited they are bringing national attention to rare diseases and the issues surrounding rare diseases. This group now has master artists from around the world donating their time and talent to paint children with rare diseases. Their goal is to put a face to all 7,000 known rare diseases.

The Rare Disease United Foundation is a non-disease speci�c, community-based organization, working at a state-level on legislation that has a direct impact on people living with a rare disease, providing support locally, and establishing relationships at local hospitals and medical schools.

For more information about the Rare Disease United Foundation, please visit http://rarediseaseunited.org/ or email at info@rarediseaseunited.org.

RSVP FOR EPP MEETING with the FDA 10/24/16 Info

https://www.eventbrite.com/e/scientific-workshop-for-erythropoietic-protoporphyria-epp-registration-24971245668 

BUT you are not required to stay here, you can stay anywhere! The FDA has a complete list of hotels in the area. http://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241747.htm 

8. The FDA website has a FAQ section that includes detailed information about nearby airports and ground transportation: http://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241741.htm 

9. The FDA has a general page with information about attending public meetings at the FDA: http://www.fda.gov/AboutFDA/WorkingatFDA/BuildingsandFacilities/WhiteOakCampusInformation/ucm241740.htm 

HEP Type of Porphyria Read & Share

Hepatoerythropoietic Porphyria (HEP)

Dr. Peter Tishler's Retirement

The APF would like to extend wholehearted congratulations to esteemed porphyria expert, Dr. Peter Tishler, on his recent retirement.  Dr. Tishler has been a treasured member of the APF and our Scientific Advisory Board for many years and we THANK YOU for your invaluable service to the porphyria community! We welcome his colleague, Dr. Joel Krier, to the APF.  Dr. Krier has been mentored by Dr. Tishler and we look forward to working with him.  If you are looking for a porphyria expert in the Massachusetts area, please contact the APF and we will gladly put you in touch with Dr. Krier. Thank you, Dr. Tishler!  We wish you the best! "Remember.Research is the key to your cure!"

APF Announcements

Diagnosis & Management of the Porphyrias:Diagnosis & Management of the Porphyrias: Part 4

• GeneReview: Acute Intermittent Porphyria
• GeneReview: Congenital Erythropoietic Porphyria
• GeneReview: Erythropoietic Protoporphyria, Autosomal Recessive
• GeneReview: Hereditary Coproporphyria
• GeneReview: Porphyria Cutanea Tarda, Type II
• GeneReview: Variegate Porphyria
• GeneReview: X-Linked Protoporphyria
• Genetic Testing Registry: Acute intermittent porphyria
• Genetic Testing Registry: Congenital erythropoietic porphyria
• Genetic Testing Registry: Erythropoietic protoporphyria
• Genetic Testing Registry: Familial porphyria cutanea tarda
• Genetic Testing Registry: Hereditary coproporphyria
• Genetic Testing Registry: Porphyria
• Genetic Testing Registry: Protoporphyria, erythropoietic, X-linked
• Genetic Testing Registry: Variegate porphyria
• MedlinePlus Encyclopedia: Porphyria
• MedlinePlus Encyclopedia: Porphyria cutanea tarda on the hands
• MedlinePlus Encyclopedia: Porphyrins - Blood
• MedlinePlus Encyclopedia: Porphyrins - Urine

• Diagnostic Tests
• Drug Therapy
• Surgery and Rehabilitation
• Genetic Counseling
• Palliative Care

Inheritance Pattern in Porphyrias Part 3

Porphyria Genetic Part 2 https://ghr.nlm.nih.gov/condition/porphyria#genes Read & Share

Read & Share: Porphyria 101- https://ghr.nlm.nih.gov/condition/porphyria

The Dateline NBC documentary "Out of the Shadows" featuring EPP has been nominated for an Emmy Award!

The Dateline NBC documentary "Out of the Shadows" featuring EPP has been nominated for an Emmy Award!  The APF received this great message from an NBC producer: I'm excited to report that the show that you helped build, Dateline NBC's "Out of the Shadows," was nominated for an Emmy Award for Best Feature in a News Magazine. I can't thank you and the entire EPP community enough for all your help. The ceremony is in September. Fingers crossed! *The APF would like to thank everyone involved in the creation of this episode. Visit this website to view the official announcement: http://www.nbcnews.com/dateline/dateline-has-been-nominated-five-news-emmy-awards-n614271 Watch the full "Out of the Shadows" episode here: http://www.nbcnews.com/dateline/video/full-episode--out-of-the-shadows-469336131891 "Remember.Research is the key to your cure!"

Don't forget to mark your calendars for the next APF Patient Meeting Indianapolis

Next APF Patient Meeting Scheduled in Indianapolis

FDA accepts SCENESSE clinical data package for NDA submission

FDA accepts SCENESSE clinical data package for NDA submission Clinuvel prepares New Drug Application (NDA) for the treatment of erythropoietic protoporphyria (EPP) Executive summary: FDA concludes initial review of datasets on SCENESSE in EPP FDA deems datasets satisfactory for submission of New Drug Application Pre-NDA meeting with FDA to be scheduled to discuss timelines and procedure Clinuvel will request rolling review of NDA under Fast Track designation Clinuvel to request Priority Review to shorten review from 10 to 6 months Clinuvel Pharmaceuticals [ASX: CUV; Nasdaq International Designation ADR: CLVLY; Xetra-DAX: UR9] today announced that the US Food and Drug Administration (FDA) has concluded an initial review of Clinuvel's clinical You may view the full Clinuvel announcement here:  http://www.clinuvel.com/en/investors/news-publications/announcements/2016-announcements/fda-accepts-scenesse-clinical-data-package-for-nda-submission This is great news for the EPP community!  We are on our way to approval of Scenesse/Afamelanotide.  Be sure to register to attend the FDA meeting to join us in our continued efforts to show the FDA how important it is for them to approve this drug in the US. Date:            Monday, October 24th, 2016 Time:           10 am - 4 pm Location:     FDA White Oak Campus                       10903 New Hampshire Ave.                       Building 31, Great Room                       Silver Spring, MD 20993 Register here: https://eppscientificworkshop.eventbrite.com *After you register, you will receive a confirmation email from the FDA with various questions to answer.* PLEASE let the APF know you will be attending once you have finished registering online.  We will be hosting a gathering for everyone the evening before the meeting.  You may call the office at 866-APF-3635 or email us at porphyrus@porphyriafoundation.com. *Please note that if you are unable to attend in person, there is an option for you to attend via webcast.* "Remember.Research is the key to your cure!"

EPP KIT? Do You have One? Get yours today

EPP Kit

• EPP brochure and education. Important background information about EPP, management strategies, photosensitivity, and ways to avoid attacks.
• ER Information Form. At-a-glance sheet for ER personnel to record your essential admission information.
• List of leading APF EPP specialists and their contact information.
• Sun Precautions catalog, including medical solutions for sun sensitive people.
• Samples of light-protecting sun block and accompanying product information.

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Nichol Kirby invites you to a Patient Education Meeting in Indianapolis, IN

APF member Nichol Kirby invites you to a Patient Education Meeting in Indianapolis, IN!  We hope you will take advantage of this opportunity to meet friends who share your experiences with porphyria.  There will be a presentation and a Q & A session for all attendees.  Bring your friends and family!  We can't wait to see you all there! Saturday, July 30, 2016 11AM - 1PM EDT IU Health Simon Cancer Center Healing Garden 1030 W. Michigan St. Indianapolis, IN 46202 **Seating is limited so we ask that you please RSVP to Nichol at 317-749-7477 or nichol.kirby@gmail.com** "Remember.Research is the key to your cure!"

Porphyrias 101 NIH Read & Share

What are porphyrias?

What is heme and what does it do?

What are the types of porphyria?

• Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.
• Cutaneous porphyrias affect the skin.

• In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.
• In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.

How common is porphyria?

What causes porphyria?

• too much iron
• use of alcohol or estrogen
• smoking
• chronic hepatitis Ca long-lasting liver disease that causes inflammation, or swelling, of the liver
• HIVthe virus that causes AIDS
• abnormal genes associated with hemochromatosisthe most common form of iron overload disease, which causes the body to absorb too much iron

• use of alcohol
• smoking
• use of certain medications or hormones
• exposure to sunlight
• stress
• dieting and fasting

What are the symptoms of porphyria?

• oversensitivity to sunlight
• blisters on exposed areas of the skin
• itching and swelling on exposed areas of the skin

• pain in the abdomenthe area between the chest and hips
• pain in the chest, limbs, or back
• nausea and vomiting
• constipationa condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person
• urinary retentionthe inability to empty the bladder completely
• confusion
• hallucinations
• seizures and muscle weakness

How is porphyria diagnosed?

How is porphyria treated?

Acute Porphyrias

Cutaneous Porphyrias

• Porphyria cutanea tarda. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the arm. A technician performs the procedure at a blood donation center, such as a hospital, clinic, or bloodmobile. A patient does not require anesthesia. Another treatment approach is low-dose hydroxychloroquine tablets to reduce porphyrins in the liver.
• Erythropoietic protoporphyria. People with erythropoietic protoporphyria may be given beta-carotene or cysteine to improve sunlight tolerance, though these medications do not lower porphyrin levels. Experts recommend hepatitis A and B vaccines and avoiding alcohol to prevent protoporphyric liver failure. A health care provider may use liver transplantation or a combination of medications to treat people who develop liver failure. Unfortunately, liver transplantation does not correct the primary defect, which is the continuous overproduction of protoporphyria by bone marrow. Successful bone marrow transplantations may successfully cure erythropoietic protoporphyria. A health care provider only considers bone marrow transplantation if the disease is severe and leading to secondary liver disease.
• Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. With a blood transfusion, a patient receives blood through an intravenous (IV) line inserted into a vein. A technician performs the procedure at a blood donation center, and a patient does not need anesthesia.

Secondary Porphyrinurias

Eating, Diet, and Nutrition

Points to Remember

• Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain.
• Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway.
• The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.
• Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent.
• Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency.
• Symptoms of cutaneous porphyrias include
  • oversensitivity to sunlight
  • blisters on exposed areas of the skin
  • itching and swelling on exposed areas of the skin
• Symptoms of acute porphyrias include
  • pain in the abdomen
  • pain in the chest, limbs, or back
  • nausea and vomiting
  • constipation
  • urinary retention
  • confusion
  • hallucinations
  • seizures and muscle weakness
• A health care provider diagnoses porphyria with blood, urine, and stool tests.
• Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.

Clinical Trials

Jared Ulmers vlog called Porphyria J Check him out

APF Member, Jared Ulmer, has started a vlog on YouTube called Porphyria J.  It's a vlog devoted to creating community and awareness around Porphyria, specifically EPP, and how he lives with it during the sunniest and hottest season of the year.  The first episode of the 13 week series, called Summer Shade, aired last night. Comment, Like, Share and Subscribe for new episodes every Tuesday!   Jared will be covering a spectrum of topics and we hope you join him on his journey. Check out the Porphyria J YouTube Channel here: https://www.youtube.com/channel/UC7SYTLc6RSGptlHHQ8Aapmg Episode 1 of Summer Shade can be found here: https://www.youtube.com/watch?v=FDZWbPX-DVI "Remember.Research is the key to your cure!"

Being Reallistic

How to Harness Your Habits

Patient Meet in Philadelphia

Over the weekend, Ariel Lager hosted a successful patient meeting in Philadelphia.

There was a great turnout and Dr. Manish Thapar gave a wonderful presentation about the porphyrias before welcoming questions from the group. Alnylam Pharmaceuticals also made a great presentation about their current research studies.

Jessica from the APF was able to attend the meeting and was very happy to meet so many people!

**There will be another Patient Meeting in Indianapolis soon! Stay tuned for more information!**
Please let the APF know if you'd like to host a meeting in your area!

 If you would like to receive the Apf E-News that contains information about Events, Research News, Research opportunities, and much much more please join the APF: http://www.porphyriafoundation.com/content/join-apf

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

American Porphyria Foundation added 3 new photos.

Published by Rob Saupe' Â· 6 mins

Over the weekend, Ariel Lager hosted a successful patient meeting in Philadelphia.

There was a great turnout and Dr. Manish Thapar gave a wonderful presentation about the porphyrias before welcoming questions from the group. Alnylam Pharmaceuticals also made a great presentation about their current research studies.

Jessica from the APF was able to attend the meeting and was very happy to meet so many people!

**There will be another Patient Meeting in Indianapolis soon! Stay tuned for more information!**

Please let the APF know if you'd like to host a meeting in your area!

 If you would like to receive the Apf E-News that contains information about Events, Research News, Research opportunities, and much much more please join the APF: http://www.porphyriafoundation.com/content/join-apf

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

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Synonyms of Hepatoerythropoietic Porphyria

Hepatoerythropoietic Porphyria

EPP Date with the FDA

HOORAY!! The APF, with your help, got an EPP meeting with the FDA! The meeting is scheduled for October 24, 2016 from 10am - 4pm (EDT) at the FDA. The FDA will be observing how many people are interested in this meeting so we need as many people as possible to attend. We MUST show them the extreme need for treatment. Great work, everyone! See below for more details!
Register here: https://eppscientificworkshop.eventbrite.com

On behalf of the Food and Drug Administration (FDA), we invite you to an upcoming public workshop on Erythropoietic Protoporphyria (EPP) to be held October 24, 2016 from 10am-4pm (EDT) at the FDA Campus in Silver Spring, Maryland. Specific details are outlined below.

The public workshop is intended to discuss how best to facilitate and expedite the development of safe and effective drug therapies to treat signs and symptoms related to EPP. FDA will provide information for and gain perspective from patients and patient advocacy organizations, health care providers, academic experts, and industry on disease symptoms and its impact on patients' daily life, patient experience with current treatment regimens for EPP, and various aspects of clinical development of products intended to treat EPP.

We're asking you to help make this workshop a success by encouraging patients, patient representatives, health care providers, academic experts and industry to participate either in-person or through the live webcast. FDA needs your help to make this workshop a success. Please direct stakeholders to the links below to register and to learn more about the workshop.

Registration: https://eppscientificworkshop.eventbrite.com
Workshop website: Scientific Workshop on Erythropoietic Protoporphyria

We look forward to this exciting workshop and hope to see you there. If you have any questions, please feel free to contact us at meghana.chalasani@fda.hhs.gov.

Use the link below to sign up: https://www.eventbrite.com/e/scientific-workshop-for-erythropoietic-protoporphyria-epp-registration-24971245668

                                               "Remember.Research is the key to your c

ure!"

Dr. Bloomer Director of the Porphyria Center of University of AL of Birmingham speaks on ALAD

ALAD Porphyria

Update Announcements!

SAVE THE DATES! Please RSVP to ATTEND

Shawn Willis will be hosting the 2nd Annual "Moo've It In The Moonlight" Run in Burlington, NC on Friday, June 10 at 7:30 PM.  The event is held in the evening to highlight the challenges of those with light sensitivity.  There will be a 5K AND a 1 Mile Untimed Fun Run. The event is sponsored by Chick-fil-A and benefits the APF.  The event was a huge success last year, so make sure to join us again this year! Visit the link below to RSVP! **DUE TO CONSTRUCTION, THE LOCATION HAS CHANGED** Cox Toyota 3860 Danbrook Rd Burlington, NC 27215 RSVP:   www.cfaraceseries.com Ariel Lager will be hosting the next APF Patient Education Meeting in Philadelphia, PA on Saturday, June 11th.  The meeting will take place from 3:30-5:30 PM EST at the address shown below.  There will be a presentation by porphyria expert, Dr. Manish Thapar. Bring your family and friends!  Everyone is welcome! Please RSVP to Ariel Lager at 215-498-9002 or alager@ces-ltd.com to reserve your spot soon as possible! Location: 1528 Walnut St, 21st Floor Philadelphia, PA 19102 "Remember.Research is the key to your cure!"

Type C meeting provides guidance for follow up and further discussions between FDA and Clinuvel

Monday, 05 October 2015 08:10

Clinuvel and FDA discuss EPP indication and regulatory pathways for SCENESSE

Type C meeting provides guidance for follow up and further discussions between FDA and Clinuvel

Leatherhead, UK and Melbourne, Australia, October 5, 2015

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 Administrations (FDAs) 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 FDAs review, analyses and further discussions on available photoprovocation and data on quality of life in EPP patients.

A discussion was held on the drugs 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.

- End -

References

Langendonk J et al (2015). Afamelanotide for Erythropoietic Protoporphyria. NEJM. 373(1):48-59.

Minder EI et al (2010). Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal. Health Qual Life Outcomes. 8:60.

Rufener EA (1987). Erythropoietic protoporphyria: a study of its psychosocial aspects. Brit J Dermatol. 116:703-8.

Media enquiries

Lachlan Hay, Clinuvel (UK) Ltd. +44 1372 860 765 Lachlan.Hay@clinuvel.com

Nick Miles, Cabinet Privé de Conseils s.a. +41 22 321 4540 miles@cpc-pr.com

Ted Agne, The Communications Strategy Group Inc. +1 718 631 3117 edagne@comstragroup.com

Investor enquiries

InvestorRelations@clinuvel.com

About erythropoietic protoporphyria (EPP)

EPP is characterised by phototoxicity (absolute intolerance to light) of the skin resulting in severe reactions, swelling, scarring and a state of distress. During phototoxic episodes patients experience longterm swelling of exposed body surfaces such as the face, hands and feet. A severe reaction triggered by exposure to light may result in hospitalisation. Patients do not respond to any analgesics or medication and following light exposure are typically unable to function. Due to the lifelong risk posed by light and UV, patients are often forced to lead an isolated indoor life deprived of normal activities.

Photoprovocation and Quality of Life data

Due to a genetic defect EPP patients are intolerant to light and sun. Photoprovocation is a standardised methodology of provoking limited EPP symptoms using specific controlled beams of light. In all five clinical studies of SCENESSE patients were subjected to photoprovocation under laboratory conditions.

Quality of life assessments utilise patient surveys to capture and analyse the impact of disease and treatment. Clinuvel has conducted quality of life surveys in all five EPP studies. Over the past eight years a disease-specific EPP Quality of Life questionnaire, developed by Clinuvel in association with expert EPP physicians, was used during clinical trials because other assessment tools were found to be unsuitable for evaluating the quality of life of EPP patients

Forward-Looking Statements

This release to the Australian Securities Exchange and to press contains forward-looking statements, including statements regarding future results, performance or achievements. These statements involve known and unknown risks, uncertainties and other factors which may cause Clinuvels actual results, performance or achievements to be materially different from any future results, performances or achievements expressed or implied by the forward-looking statements. These statements reflect our current views with respect to future events and are based on assumptions and subject to risks and uncertainties. Given these uncertainties, you should not place undue reliance on these forward-looking statements. Some of the factors that could affect the forward-looking statements contained herein include: that the FDA may require additional studies beyond the studies planned for product candidates or may not provide regulatory clearances, including for SCENESSE; that the FDA may not provide regulatory approval for any use of SCENESSE or that the approval may be limited; that Clinuvel may never file an NDA for SCENESSE regulatory approval in the US; that the Company may not be able to access adequate capital to move its vitiligo programs forward; that the Company may not be able to retain its current pharmaceutical and biotechnology key personnel and knowhow for further development of its product candidates or may not reach favourable agreements with potential pricing and reimbursement agencies in Europe and the US.

Level 5, 160 Queen Street  T +61 3 9660 4900 www.clinuvel.com

Melbourne, Victoria 3000 F +61 3 9660 4999

Australia

A must Read & Share 6 Case Studies of AIP

Go to:

DISCUSSION

Table 1 shows the age and gender distribution of the 6 patients (5 women and 1 men; average mean age 28.5 years). AIP is more frequent in women between second and fourth decades of life.6,7 Average mean age of onset was 27.6 years. Mean number of episodes was 2.83. Premorbid personality did not bear any particular personality traits.

Table 1

Age and gender distribution

Table 2 shows their clinical presentation in detail including the urine colour and urinary porphobilinogen titre. Among 6 patients, 4 had abdominal pain, 5 autonomic instability, and mental symptoms in all 6. Three patients had depression and 2 came in delirium. Depression and delirium are two neuropsychiatric manifestations that are most commonly reported.4 Among the 6 patients, 3 had seizures. The life-time prevalence of AIP associated with seizure was 2.2% of all those with known AIP and 5.1% of all those with manifest AIP.8

Table 2

Clinical profile

One patient (No. 6, DC) died while in coma due to AIP. According to Jeans et al.,9 mortality due to AIP was 3-fold compared to that in the general population during the past 50 years. The major cause of the increased mortality was the porphyric attack itself.

These patients were tested only qualitatively for porphobilinogen by using the Watson and Schwartz method. Quantitative tests for determination of 4-aminolevulinic acid (ALA) in urine could not be done due to lack of sophisticated laboratory facilities. But qualitative determination of porphobilinogen in the urine by Watson and Schwartz test is a simple and valuable screening test for the diagnosis of an acute attack of AIP. Hereditary coproporphyria (HCP) and variegated porphyria (VP) can be differentiated clinically from AIP by the presence of photosensitive cutaneous lesion and confirmed by titration of particular enzyme deficiency in erythrocytes, leukocytes and skin fibroblasts.

The Watson and Schwartz test is almost always positive during episodes of neuropsychiatric dysfunction but is positive only when the concentration of porphobilinogen in the urine is 3 to 5 times the upper limit of normal; as a consequence, both assays may be negative in latent cases and in patients in whom urinary excretion of porphobilinogen becomes normal following an acute attack. This however is by no means invariable and persistently elevated levels of porphobilinogen may occur. Caution is also required in certain febrile illness, in lead poisoning and in patients receiving phenothiazine drugs.10 Crimlisk11 reported that porphyria may be over-represented in psychiatric population, and negative screening test does not exclude the diagnosis. The diagnosis may be missed because it is not even considered or because of practical problems.

Depression is very common in porphyria but all textbooks are silent regarding safe antidepressants to be used. All standard textbooks mention imipramine and amitryptiline which can precipitate porphyria. There is uncertainty about newer antidepressants regarding their use in porphyria patients with depression, due to which the first patient could not be treated well. Clomipramine was given for a long time without signs of deterioration and unmodified ECT was safely used in one of the patients.

Again, regarding use of haloperidol and other anti-psychotic drugs besides phenothiazine nothing is mentioned in the textbooks. Theoretically we know that drugs that are metabolized by cytochrome P450 enzyme systems in the liver lead to the consumption of haem by cytochrome P450. This results in diminished levels of cellular concentration of haem, which in turn leads to depression of A-ALA synthetase with a corresponding increase in the rate of haem synthesis which may result in increased production of porphobilinogen in AIP patients.12

In conclusion, it is suggested that a list of safe antipsychotic and antidepressant drugs should be tried out and published to help in the treatment of porphyric patients with psychiatric manifestations.

A Members Story of AIP

Joe Hoss

Type of Porphyria: 

Acute Intermittent Porphyria (AIP)

Joe Hosss Story AIP

            I was about 30 when I had my first porphyria attack.  It all started with severe abdominal pain, like the pain described by porphyria patients in the first 2016 APF newsletter. The pain was almost unbearable. They put me in the hospital and didnt know what was wrong. They began giving me medication but I was going downhill quickly. I called my mother to come to Birmingham, Alabama, where I was living, and she came down with porphyria symptoms around the same time. I was so confused and disoriented that I told my mother, much later, I dreamed that I was in a strait-jacket. But she told me that was no dream! Apparently I had gone into another patients room to use their shower, so they restrained me. My mother went into a coma while I was ill. I came to Jacksonville to be near other family after this. I had another 1-2 years of ineffective treatment and had a terrible backache. They gave me several over-the-counter drugs, but I was finally referred to a doctor that specialized in hand surgeries. He gave me a simple exercise and my back began to feel better quickly. This doctor recommended I begin swimming for exercise and this improved my situation tremendously. Swimming helped for about 10 years, from age 52-62, until I moved to another location that didnt have a pool I liked nearly as much.

I got married and shortly after, my attacks started again and I began having trouble digesting my food. A doctor gave me a new medication to alleviate this and it made me worse overall. The problem was actually solved with the transcendental meditation I started at age 33. I have been practicing since I was 33, and I am now 77. I also started yoga.

While my most severe pain occurred during my first attack, I continued to have porphyria pain and I wasnt diagnosed for several years after my first attack. My first attack was around the time when my mother went into a porphyria related coma. Later when they diagnosed my mother with Acute Intermittent Porphyria (AIP), they also tested me and I tested positive. I have tested positive on every 24-hour urine test Ive had in my whole life. My doctor prescribed a polycose powder for me to take in an attempt to keep my porphyria attacks at bay. I ingest local honey each day, along with peanut butter, and eat small meals every 4 hours, coupled with a traditional meal once/day.

Ever since my diagnosis, I have been a dedicated member of the APF.

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

SCENESSE treatment in Europe

SCENESSE treatment in Europe German Porphyria Expert Centres to start distribution of SCENESSE (afamelanotide 16mg) Clinuvel Pharmaceuticals Limited (ASX: CUV; XETRA-DAX: UR9; ADR: CLVLY) today announced an update on the company's post-authorisation distribution of SCENESSE (afamelanotide 16mg) across Europe for adult patients with the rare disorder erythropoietic protoporphyria (EPP).1 SCENESSE in EPP SCENESSE is the first approved treatment for EPP, a genetic disorder characterised by acute phototoxic reactions (anaphylactoid reactions and burns) and forced withdrawal from exposure to all forms of visible light. Clinuvel conducted clinical trials of SCENESSE in EPP from 2006 to 2013. You may view the full Clinuvel announcement, along with others, at this address: http://www.clinuvel.com/en/investors/news-publications/announcements The APF would like to take this opportunity to remind you how important it is to continue our fight for this revolutionary drug to be approved in the USA.  PLEASE keep sending us your photos and stories.  We will not stop submitting your stories to the FDA.  Thank you for all you've done already! "Remember.Research is the key to your cure!"

NORD and EPP: Micheline M. Mathews-Roth, MD, Associate Professor of Medicine, Harvard Medical School

Erythropoietic Protoporphyria

Porphyria Facts from the NIH: Read and Share Dr.Porphyria Expert Herbert L. Bonkovsky, M.D., Carolinas Health Care System

On this page:
What are porphyrias?
What is heme and what does it do?
What are the types of porphyria?
How common is porphyria?
What causes porphyria?
What are the symptoms of porphyria?
How is porphyria diagnosed?
How is porphyria treated?
Eating, Diet, and Nutrition
Points to Remember
Clinical Trials
What are porphyrias?
Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cellsred blood cells, white blood cells, and platelets.

Quotes of Porphyria Read & Share

American Porphyria Foundation

Published by Rob Saupe' Â· 20 hrs Â· 

The old adage, No Pain, No Gain, may work well in certain instances, but for porphyria, No Pain, No Gain is a terrible maxim. Most patients agree that porphyrias do not fit within the mainstream of painful conditions, like broken bones, labor pains, muscle spasms, etc. Porphyria pain is so severe that it is difficult to explain, but the people below have used their own extraordinary descriptions. After you read their quotes, you will understand why porphyria has gained a reputation as one of the most painful diseases.

Victor Mejias (EPP) It itches and burns so bad it makes me climb the walls.

Emily Melone (AIP) It is like charlie horses in my intestines.

Mike Boone (AIP) I want to unzip my skin and step out. My ribs feel like they are being fileted.

Karen Eubanks (AIP) I am being kicked with a steel toed boot.

Kim Stala (EPP) My hands feet and face are in boiling water for days while a knife is cutting and twisting my in-sides.

Monique Jacobs (HCP) My skin is akin to jellyfish stings while my belly burns like a washing machine full of lava.

Steve Stevens (AIP) My rib cage feels like the lava inside a volcano with lightning bolts going off.

Tara Cantley (AIP) My arm feels like someone cut off the circulation with a tie.

Lisa McFarland (EPP) It's like sticking your hands in a vat of hot frying oil with no relief in sight.

Stacy Hermann (AIP) I feel confused, angry, and full of deep despair. I cry at nothing at all.

Rachel Shinn Olstad (HCP) My daughter says it is like a knife stabbing her thigh over and over.

Debbie Rohn (AIP) My daughter says its like getting stung by thousands of bees and peroxide in her veins.

Deb Miller Gilbert (VP) My nerve endings are firing all at once and I do not get a break from it. My nerves are so overstimulated that a loving hug from my son is excruciating.

Tara Cantley (AIP) Someone is squeezing my arms and legs until they go numb and nerves feel as if they're burning.

Theresa Flagg Jurls (PCT) An inflated object with steel spikes caught behind my right ribcage.

Rachel Johnson Keith (AIP) Demons are chewing their way out of my gut and standing in a pile of fire ants.

Nicole Marie DiRoma (AIP) Severe burning torch in my stomach, being pregnant for your whole life and muscle pain like a 500lb person sitting on you and wont get off.

Rachel Ballew Campbell (AIP) It feels like someone is slicing your insides with a straight razor, while pouring hot lava through them. There really is no way to explain it.

Beverly Tuberville (AIP) Fire ants are all over.

Jennifer Taylor Nay (AIP) It feels like I am digesting glass shards.

Gregary Scott Allen Edwards (AIP) Its like being run over by a steam roller, shot by tasers repeatedly, and hav-ing all my life force batteries drained instantly.

Terri Witter (AIP) I have a tummy full of broken glass.

Mary Schloetter (AIP) My bones feel like rolling in glass shards and acid moving through my veins. Episodes are called 'attacks,' I agree as I'm standing alone on a battlefield being hit with guns, cannons and tasers.

Christine R. Baer (AIP) I have a knife through the abdomen, and my insides have jitters and dancing and moving.

Lisa Coleman-Vinson (AIP) Its like digesting huge, hot rocks with bone crushing pain.

Theresa Flagg Jurls (PCT) Steel spikes poking into my abdomen and ribcage, steel clamp gripped to pelvis.

Beth Nye (AIP) A 600lb person is sitting on my stomach and twisting it like a wet towel to remove all the water.

Nicki Theisen Maus (AIP) My insides feel like they're on fire!

Rogers Reyna (AIP) Its like aliens use my back as a trampoline while chewing their way through my gut. The nerve pain burn is fire ants having a festival in my arms and legs!

Patty Harris (AIP) Firing swords of hell with demons eating their way through your stomach back, legs, arms, and head. Lets face it, porphyria is burning hell.

Joe Mrsny (PCT) I look like I have leprosy because of the blisters breaking open. The itching is unbearable and causes scars and it usually comes at night so I am sleep deprived. The sun hurts. My finger nails fall off so I am unable to button my clothes. I just want to lay down and stay out of sight.

Whitney McCabe Stevens (HCP) Reality is, I can't accurately describe the pain of an attack because it is the most horrendous and overwhelming pain I have ever felt! On the pain scale of 1-10, it's 10,000. In my opinion, words simply can't accurately describe what we endure.

**These quotes can be found in the March 2016 Newsletter on the Apf website. http://www.porphyriafoundation.com/â?¦/Newsletter March 2â?¦

2016 Honoree Rare Impact Awards- Desiree Lyon Howe

During a wonderful ceremony last night in Washington D.C., Desiree Lyon Howe, the Executive Director of the APF, was awarded the 2016 Rare Impact Award by the National Organization for Rare Disorders (NORD), which represents 23 million Americans with rare diseases. Desiree is grateful to receive this award and had a great time celebrating with her family, friends, and colleagues.  Desiree credits the success of the APF to the members and the Scientific Advisory Board. "Remember.Research is the key to your cure!"

VP FACTS

Reaction Catalyzed by Protoporphyrinogen Oxidase

Clinical Features of VP

APF 600 PAges sent to FDA Commissioner! Fight EPP

Last week the APF sent this stack of over 600 PAGES (2 and 1/2 inches tall) of EPP pictures and stories to the FDA Commissioner!  We have not slowed our efforts one bit and we will to continue to fight!  Keep sending us your personal stories, letters, photos, etc  We need to keep putting pressure on the FDA!  Summer is HERE.  It is unacceptable that we do not have approval of Afamelanotide/Scenesse and we will not stop until we have achieved our goal.  Join the APF in fighting for this revolutionary treatment to be approved in the US! "Remember.Research is the key to your cure!"

Part 2 of Care giving (Important)

1. Look for the areas that may need help, buy making a list.
2. Hold a regular family meeting to to keep everyone up to date. Very important to include the patient and let them express their wishes and concerns.
3. Ask family and friends when they are able to help and what jobs they think they can do.  Be clear about what you need help with.
4. When you do hear back from them, note it on your list and make sure they haven taken care of what was needed.
5. Also show your appreciation to all family and friends for their continued support and help.

Learn about ALAD Porphyria

ALAD

aminolevulinate dehydratase

CEP News

Being A Caregiver with Porphyria

• Help feed, dress, and bathe the patient.
• Make sure the patient eats and gets rest.
• See that the patient takes medicines as they were told to.
• Keep tracts of appointments.
• Take care of insurance problems.
• Drive the patient
• Help with other family member's needs.
• Talk to the health care team about how the patient is doing.
• Help the patient live a normal a life as possible.

EPP Story of Maria Hensinger

Maria Hensinger

Type of Porphyria: 

Erythropoietic Protoporphyria (EPP)

I am a 38-year-old mother of two who lives right outside of Philadelphia. I was diagnosed with EPP at the age of two. My mother had noticed that I would get scabs on my nose when she took me out in the sun, so she took me to our family doctor who thought I had porphyria. Since this wasn't something anyone in our family had she got a second opinion at Children's Hospital of Philadelphia where they confirmed, through testing, that I did indeed have Erythropoietic Protoporphyria (EPP).

I have had outbreaks every year since then, though some years are better than others. My hands, nose and feet are the most affected. My symptoms are itching, burning, swelling, tingling, pain, sensitivity to different temperatures. Depending on the severity of the outbreak, my symptoms last from a day to a week. I limit my sun exposure to no more than an hour in full sun and about two hours covered up. I use tons of sunscreen and protective clothing (which I discovered only a few years ago).

I find most doctors do not know much about EPP. They make notations in my file but don't ask many questions about it. A good example would be that I took birth control pills for five years and just learned recently that I should not have taken them at all. I do wish I had learned that from one of my doctors. I find that European doctors seem to have a better understanding of my symptoms and how the disease works. I used to see a dermatologist for my outbreaks and when I was little I was tested periodically. There was never any information for me out there so I just tried to figure out my limits on my own and stopped seeing a doctor about the disease.*

When I became pregnant with my first child my husband and I spoke with genetic counselors at our hospital. They decided that we should test the baby right after birth to determine if he/she would have EPP. When my daughter was born we had her tested and she tested positive for it. When my son was born, he too tested positive for it. The doctors recommended that we retest them after they were two, as the tests they had as newborns could be a false positive.

My children are now 10 and seven and show no symptoms of EPP. A few years ago I had my son retested while he was having his normal checkup and his levels seemed to be a bit higher. At the recommendation of our pediatrician I consulted with the Chief of Hematology at duPont Children's Hospital in Delaware. The doctor contacted Dr. Micheline Mathews-Roth who indicated that my son could be a carrier but we could only know for sure with genetic testing. At this point, my husband and I decided that we would forgo it and let my son decide if he wanted it when he got older to determine whether or not his children may inherit EPP. I have no idea what my daughter's levels are, but will leave the genetic testing up to her if she wants it when she's older. My two sisters have been testedthey never showed any symptoms of EPP, and neither one is a carrier.

Through the testing process for my son, the doctor wanted me to get retested and so I did. The process of finding a lab that knew what was required was challenging as not all labs are equipped for doing the testing. It was reconfirmed that I had EPP but the doctor gave me all my results so I was able to see what my levels are, he also explained the genetic process and helped me really understand how it all happens. It is very lonely out there when you can't find any information on your illness or someone to relate to. A few years back I did a web search and found the APF website. What a thrill to find more information on my illness. I have been able to better understand my disease and educate my doctors on various parts of it. My family doctor has all the info I can find on EPP and is more than happy to make sure I have all my tests done for liver function, etc.

It's not easy living with EPP. My family has always made sacrifices to help me stay symptom-free. The outbreaks can make me delirious with pain and there isn't anything I can take for it. I try to keep my symptoms to myself but there are times when the pain is so great that I lose my temper and my patience. There have been many nights that I have had a bucket of cold water by my bed so I wouldn't have to get up to cool my hands or feet.

I try to stay out of the sun as much as possible but things like sun exposure through the car windows when I am driving can aggravate EPP. I now use gloves while driving in the spring and summer and a sun-protective scarf when I am a passenger. When I was younger I thought the hardest part was missing out on all the fun stuff myself, but after having kids I find that they have had to adapt to my limitations too and at times that makes me very sad. When they were babies and I had an outbreak, changing a diaper was a huge and very painful task and holding them was no better.

As my children got older and wanted to play outside they would protest when I would say "Mommy can't be out in the sun." Now they understand better and go with the flow of things, though at times I do need to remind them why we have to move inside. If anything I hope that I've instilled a sense of them taking care of their skin when they are going to be out in the sun. I also hope that the EPP stops with me and that their lifestyles will not be hindered once they have their own children.

*Editor's note. With more than 6,000 rare diseases in the world, the unfortunate fact is as Maria says: it is simply not possible for any doctor to be well versed in all of them. This means rare disease patients must rely on a combination of educating themselves and their doctors from reliable sources of medical information, and looking to expert consultation when it is available. The APF exists to provide all of these resources to patients and families dealing with all types porphyria. Please call our office to let us know how we can help you.

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

What is Porphyria Read & Share

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


American Porphyria Foundation
www.porphyriafoundation.org
4900 Woodway Dr. Suite 780
Houston, TX 77056

866. APF.3635 Toll Free

APF WEEK! Thank you to everyone

To view this email as a web page, go  here.

The APF would like to extend a huge THANK YOU to everyone who participated in making National Porphyria Awareness Week such a huge success this year. With your help, the APF reached over 50,000 people via social media! The APF mailed out MANY packets of brochures and other educational materials for distribution. In addition to passing out educational materials, APF members engaged in other activities to promote porphyria awareness. On the first day of Awareness Week, Louise Schlosser hosted a very successful Patient Education Meeting in California. Some members set up tables outside of businesses during peak hours to educate the public. Nicholas Guanciale set up a porphyria table at his job. One member created a porphyria flyer to pass out at her upcoming family reunion. Other members sold porphyria-related items or created posts on Facebook. Another member even planted a garden spelling out EPP in honor of Erythropoietic Protoporphyria, as you saw featured in last week's enews! Regardless of what you chose to do, the APF is deeply appreciative of your efforts and we hope you all enjoyed participating! We are already looking forward to next year! "Remember.Research is the key to your cure!"

APF Awareness week: Allison Linner ~ Hereditary Coproporphyria (HCP) Share

                               Allison Linner

 Hereditary Coproporphyria (HCP)

My name is Allison Linner and I am seventeen. I came into this world on a cold, rainy day in early October, but my Dad said that the moment I was born, the sun peeked through the clouds, thus my nickname, Sunshine.

           

For some reason, my parents always knew there was something wrong with me.  My life was dotted with strange symptoms, including lots of pain and lots of doctors for a girl my age.  Each doctor diagnosed me with something else.  When I hit puberty, things worsened. I had terrible episodes during which I would be doubled-over in front of the toilet, wanting to be unconscious because of the pain, but unwilling because I knew if I passed out I might choke on my own vomit.  The toilet even became my pew.  I fought to stay conscious while these other things were occurring. I could feel that my heartbeat was weak and irregular. Another strange symptom was that I was extraordinarily photosensitive.   When ill, I would lie on my bed with my eyes shut, a wet washcloth over my eyes, the blinds closed tight, and I would still be irritated by light.  This is one reason I thought I was just nuts.  I even had times when I experienced paranoia and hallucinations.  I would cry and pray hard. I wondered how my nickname could ever be Sunshine.

One of my most recent episodes was very hard.  It was this past summer, and I decided to be the chaperone at an outdoor pool party my sister was attending.  When I got out of the pool, one mom touched my face and said: Oh my Goshyoure so pale. I responded Yeah, I get that a lot.  When we got back in the pool, I suddenly felt very ill and with Gods help I was able to get home and then get to the doctor.    

I questioned him, In your professional opinion, do you think these symptoms that all of my different doctors have diagnosed over the years, are intertwined in some way? He said, No, there is no such disease that has all of your symptoms.  But there had to be , I thought.   I knew in my heart that each symptom was a puzzle piece and I realized that my family and I would have to play large roles in putting it together.

One day, my Dad and I talked a lot about what was happening.   He promised me that I would find out what was wrong with me, and what was wrong with us, since we shared similar symptoms.  At the end of our discussion, he jokingly said that maybe because we were so sensitive to light, we were vampires. He also said that there actually was a disease on which the legends were most likely founded. I thought I'd look it up, just for fun. Reading the list of symptoms was like reading the story of my life. It was actually a very spiritual experience, it felt like reading the scriptures.  A few days later, I went to the doctor and asked him if he could order the tests. He said Sure, why not? While waiting on the obscure test results, I performed at home the '24-hour urine test.' Within a few hours, my urine was a deep purple-red hue. A few short days later, the tests came back positive for Hereditary Coproporphyria (HCP.) 

This is a hard disease to have, there is no doubt about it. I know what pain is. But every day, I thank our Father in Heaven that I finally know what ails me; and that Im not crazy.  Ive learned to cope with it daily.  When I do have flare-ups that is probably when Im closer to God than any other time. It is so humbling. I am actually grateful for my disease because it does so much to compel me to be a better person.

When I turned 17 on October 10, my family gave me a card that has a cartoon sun smiling on it and it reads: Happy, Bright, and Lots of Fun. Inside, each member of my family wrote a little note to me. In my Dads message he wrote, You dont need the sun because you carry so much light inside you wherever you go. I guess Im still Sunshine after all.

                                    Did you Know: 

                                  Hereditary coproporphyria (HCP)

HCP is similar to AIP, but the symptoms are typically milder. HCP is caused by a deficiency of coproporphyrinogen oxidase due to mutations in a gene by the same name at 3q12. The greatest difference between HCP and AIP is that people with HCP may have some skin sensitivity to sunlight. However, extensive damage to the skin is rarely seen.

                                                             

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

APF Awareneess Story Read Share Sandra Ihring VP

Sandra Ihring

Variegate Porphyria (VP)

I come from a Central Oregon town with the population of about 1100 people. I moved back here to Central Oregon, where I was raised after 40 years of being away. I took my grandson to a local ER in Redmond, OR (population about 26,000) after an accident where he hurt his foot which needed to be checked out.  I was making small talk with him in the waiting room and told him of some new information about porphyria I had learned.  A woman in the waiting room overheard our conversation.  So, as it goes in small towns; we started talking.  She told me that she had porphyria also.

She was called in to see the triage nurse but her husband remained and we visited.  I exchanged contact information with him and we briefly traded stories. She came back in the room shortly. My first question after finding out what kind of porphyria she had (AIP), I asked her how she was diagnosed; as I knew of my own 'war stories' of finally finding the correct diagnosis.

Her story was similar to mine and other porphyria patients, being brushed off by many regular doctors who do/did not understand the cluster of symptoms or level of pain involved during a porphyria attack.  If your symptoms don't exactly fit a text book illness model then it is all in your head been-there-done-that. I was diagnosed about a year ago after several Oregon doctors turned their back on me not wanting to deal with the local medical political climate. The few who didn't turn me away hung in there with me and saved my life. 

My new friend (from the ER waiting room) was diagnosed about 14 to 16 years ago in Eugene, Oregon.  She was deathly ill, hospitalized and was first diagnosed with  Guillain-Barre syndrome,  yet they still did not know exactly what was going on with her. Her doctors were all puzzled. 

She had one doctor who used her personal three days off from work researching the internet on her behalf and wondered if she might have porphyria.  This doctor did the porphyria testing and sure enough she nailed the correct diagnosis of AIP. Those kind of doctors are few and far between.

What I find amazing about our chance encounter in the local ER waiting room was that we both found out we were afflicted with this very rare disease in a sparsely populated area. One of us being among only approximately 1 in 100,000 porphyria patients affected in the US. It makes our chance meeting even more amazing

My personal take on just how rare porphyria is: there are probably more porphyria patients out there that could be identified if our doctors had more exposure in their training about the disease; and lab technicians were trained to collect the specimens and process the samples correctly. 
That is my nickel's worth 

If you have questions regarding testing, symptoms and treatment used for the Acute Porphyrias please visit: porphyriafoundation.org

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

 

Kathryn Nelson and PCT Journey!

Kathryn Nelson

My Porphyria Cutanea Tarda (PCT) experience began roughly seven years ago. At the time I was living in Irving, Texas. When lesions appeared on my face, forearms and legs, I thought that perhaps it was related to Psoriasis, an autoimmune disorder I had since I was a child. As a result, I resorted to a fairly common approach to Psoriasis which is exposure to UV rays. I spent an hour or so every afternoon in the sun, but more lesions developed and the existing ones grew in size. Repeated visits to my Dermatologist resulted in a variety of diagnoses including eczema, hives and finally a "picking" disorder which basically meant the doctor believes you are picking at your skin causing sores and infections. His primary reason for this was that the sores appeared only where I could physically reach the area, in other words, there were no lesions on my back or the backs of my legs. I pointed out that as a forty plus year old woman, I didn't think I had suddenly started to pick my skin but he was not deterred.

I continued to use antibiotic ointments on the most severe patches and, as a result of other health concerns, discontinued my efforts to get a daily dose of UV rays. Over time, the lesions began to shrink but a new symptom developed. My skin darkened dramatically in areas where there were no blisters and where the blisters had healed, the skin turned white, giving the appearance of vitiligo. I was seeing a Rheumatologist for other autoimmune symptoms and he suggested I visit a dermatologist he knew who specialized in autoimmune skin disorders. He also prescribed Plaquenel to treat lupus-like symptoms tied to an undifferentiated connective tissue disorder.

It was several months later when I met with Dr. Melissa Costner in Dallas. By that time, most of the lesions and blisters were healed, however, the splotchy dark patches and scarred white areas covered most of my arms, face and large portions of my legs. I described my experiences over the previous three years. Dr. Costner listened closely and then said she wanted to do some blood work. Three weeks later, I returned to her office where she explained I had a familial type of PCT. In one minute, all of the heartaches of the previous four years made sense. She listened to me, something the previous doctors failed to do. She believed me when I said I wasn't "picking" my skin and said that rather than affecting areas where I "could reach," PCT was actually affecting areas being exposed to the sun. By reducing the time I was spending in the sun due to my energy issues, I had actually started the PCT healing process.

Today I still have very dark patches on my skin and very white scars but I have few reoccurrences of PCT. I play close attention to the medications I take, particularly since I have other auto-immune disorders which require a heavy regimen of treatment. PCT was not something I had ever heard of and was honestly not my biggest health concern at the time. But finding a doctor who listened gave me a sense of empowerment that I continue rely on today in all aspects of my health and with all my doctors.

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

What Is AIP?

Acute Intermittent Porphyria (AIP)

Special Interview: Justin Hamilton and his life with CEP~ Congenital Erythropoietic Porphyria

So at what age did you start experiencing problems?  What were they? 

What are your symptoms?  How have you managed your symptoms? Symptoms are any exposure to the sun or certain lights I get blisters, some big some small. All very painful, and then after they pop they take weeks to heal. Then when they do heal they leave scars that limit normal skin growth. Pain becomes a normal thing that I become used too and just pray it helps fast each time. Trying to manage it is just lots of sunscreen and coverage when in the sun. I believe everything happens for a reason. So I just take what the good lord gave me and make the best of it. 

Skin

Blood and other tissues