Living with Hepatoerythropoietic porphyria
A rare inherited condition that causes extreme sun sensitivity and skin damage, usually starting in infancy.
Understanding Hepatoerythropoietic porphyria
Symptoms usually begin in infancy. They include extreme sun sensitivity, extra body hair, discolored teeth, and anemia. Over time, people may lose skin or bone, or have scarring in sun-exposed areas. It is diagnosed from symptoms, an exam, and lab tests, and confirmed by genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe sun sensitivity
- Skin blisters
- Fragile skin and scarring
- Red-brown or purple urine
- Red or discolored teeth
- Patchy darker or lighter skin
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, kidney specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in UROD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Porphyria Foundation and United Porphyrias Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: American Porphyria Foundation, United Porphyrias Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Porphyria Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by a UROD gene that is not working correctly. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hep; homozygous porphyria cutanea tarda
Patient organizations
- American Porphyria FoundationHepatoerythropoietic porphyria · United States
- United Porphyrias AssociationHepatoerythropoietic porphyria · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hepatoerythropoietic porphyria.
Explore research for Hepatoerythropoietic porphyria
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