Have you ever heard of Hepatoerythropoietic Porphyria (HEP)

  • Aug 2, 2021

Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. Symptoms usually begin in infancy and include extreme sun sensitivity, extra body hair, discolored teeth, and anemia. Over time, people with HEP may lose skin, bone or develop scarring in sun-exposed areas. HEP is caused by a UROD gene that is not working correctly and is inherited in an autosomal recessive pattern. HEP is diagnosed based on the symptoms, clinical exam, laboratory testing, and confirmed by genetic testing. Treatment of HEP is focused on avoiding sun exposure and managing the symptoms.[1][2][3]

Symptoms   you can read more here: https://rarediseases.info.nih.gov/diseases/6169/hepatoerythropoietic-porphyria


The following list includes the most common signs and symptoms in people with hepatoerythropoietic porphyria (HEP). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms of hepatoerythropoietic porphyria may include:[1][4]

  • Extreme sensitivity to the sun (photosensitivity)
  • Blistering in sun exposed areas
  • Scarring
  • Discolored teeth and urine
  • Extra body hair (hypertrichosis)
  • Anemia

Symptoms of HEP usually begin in infancy or early childhood, although in a few cases symptoms don't appear until adulthood. In some people, photosensitivity leads to scarring and loss of skin and bone. People with HEP may also be more likely to get bacterial infections.[1][2][4]

Last updated: 8/11/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names

Learn More:

HPO ID

80%-99% of people have these symptoms
Cutaneous photosensitivity

Photosensitive skin

[ more  ]
0000992 
Hemolytic anemia   0001878 
Thin skin   0000963 
Percent of people who have these symptoms is not available through HPO
Alopecia

Hair loss

0001596 
Autosomal dominant inheritance   0000006 

 

Inheritance


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Hepatoerythropoietic porphyria (HEP) is inherited in an autosomal recessive pattern.[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
  
People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.
 

Last updated: 8/11/2020

Diagnosis


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Hepatoerythropoietic porphyria is diagnosed based on the symptoms, a clinical exam, and genetic testing. In addition, specific laboratory tests may be done to look for abnormal levels of certain chemicals in the blood and urine.[1][2]

Last updated: 8/11/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment


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    Treatment for hepatoerythropoietic porphyria is focused on managing the symptoms. People with HEP are advised to avoid sun exposure to prevent blistering and scarring.[1][2][3]

    Specialists involved in the care of someone with hepatoerythropoietic porphyria may include:

    • Hematologist
    • Dermatologist
    • Liver specialist

    Last updated: 8/11/2020

    Management Guidelines

    • The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®.  Click the "document" link above to view these guidelines.

      Statistics


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      There have been less than 100 cases of hepatoerythropoietic porphyria reported in the medical literature. Some evidence suggests that about 1 in 20,000 people may have this condition.[1]

      Last updated: 8/24/2020

      Do you have updated information on this disease? We want to hear from you.

      Find a Specialist


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      If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

      If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

      You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

       

      Healthcare Resources

        Related Diseases


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        Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

         


         

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