Rare Pediatrics News
Disease Profile
Hepatoerythropoietic porphyria
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
-
ICD-10
E80.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
HEP
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders;
Summary
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
Symptoms
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]
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.
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 |
0001878 | ||
Thin skin | 0000963 | |
Percent of people who have these symptoms is not available through HPO | ||
Alopecia |
Hair loss
|
0001596 |
0000006 | ||
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 |
Diagnosis
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
Specialists involved in the care of someone with hepatoerythropoietic porphyria may include:
Hematologist Dermatologist - Liver specialist
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.
Related diseases
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
|
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Differential diagnosis is mainly Günther disease (see this term).
Visit the Orphanet disease page for more information.
|
Organizations
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
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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: [email protected]
Website: https://porphyriafoundation.org/
Social Networking Websites
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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
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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: [email protected]
Website: https://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/
Learn more
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.
References
- 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.
- 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.
- 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.
- 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.
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