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  3. Hepatoerythropoietic porphyria
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Hepatoerythropoietic porphyria


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Other Names:
HEP
Categories:
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders; Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders; Skin Diseases See More
This disease is grouped under:
Porphyria

Summary Summary


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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]
Last updated: 8/11/2020

Symptoms Symptoms


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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.

Showing of 11 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ 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
Autosomal recessive inheritance 0000007
Facial hypertrichosis
Increased facial hair growth
0002219
Fragile skin
Skin fragility
0001030
Hyperpigmentation in sun-exposed areas
Increased pigmentation in sun-exposed areas
0005586
Onycholysis
Detachment of nail
0001806
Scleroderma 0100324
Showing of 11 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021

Cause Cause


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Hepatoerythropoietic porphyria occurs when the UROD gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly, or sometimes not at all.[1]
Last updated: 8/11/2020

Inheritance 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 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 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 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 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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases 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.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis is mainly Günther disease (see this term).
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

    For more information on the registry see: https://www.rarediseasesnetwork.org/cms/porphyrias/registry

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • American Porphyria Foundation
    4915 St. Elmo Avenue
    Suite 105
    Bethesda, MD 20814
    Toll-free: 1-866-273-3635
    Telephone: +1-301-347-7166
    Fax: +1-301-312-8719
    E-mail: porphyrus@porphyriafoundation.com
    Website: https://porphyriafoundation.org/

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Organizations Providing General Support

  • American Association for the Study of Liver Diseases
    1001 North Fairfax, 4th floor
    Alexandria, VA 22314
    Telephone: 703–299–9766
    Fax: 703–299–9622
    E-mail: aasld@aasld.org
    Website: http://www.aasld.org/
  • American Liver Foundation
    39 Broadway, Suite 2700
    New York, NY 10006
    Toll-free: +1-800-465-4837 (Helpline)
    Telephone: +1-212-668-1000
    E-mail: https://liverfoundation.org/for-patients/contact-us/
    Website: https://liverfoundation.org/
  • European Porphyria Network (EPNET)
    E-mail: https://porphyria.eu/en/contact
    Website: https://porphyria.eu/en
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Hepatoerythropoietic porphyria. This website is maintained by the National Library of Medicine.
  • The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hepatoerythropoietic porphyria. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Liu LU, Phillips J, Bonkovsky H, Porphyrias Consortium of the Rare Diseases Clinical Research Network. Hepatoerythropoietic Porphyria. GeneReviews. Updated Dec 16, 2016; https://www.ncbi.nlm.nih.gov/books/NBK169003.
  2. Ramanujam VS, Anderson KE. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet. 2015; 86:17.20.1-17.20.26. https://pubmed.ncbi.nlm.nih.gov/26132003.
  3. Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Liver transplantation in the management of porphyria. Hepatology. 2014; 60(3):1082-1089. https://pubmed.ncbi.nlm.nih.gov/24700519.
  4. Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, et al. Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Arch Dermatol. 2010; 146(5):529-533. https://pubmed.ncbi.nlm.nih.gov/20479301.
Do you know of a review article? We want to hear from you.
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