Living with Autosomal erythropoietic protoporphyria
An inherited condition that makes skin extremely sensitive to sunlight and can affect the liver.
Understanding Autosomal erythropoietic protoporphyria
Porphyrias are caused by a problem in making heme, which helps blood cells carry oxygen. In EPP, protoporphyrin builds up in the blood, skin, and eventually the liver. This can cause extreme sun sensitivity, liver damage, belly pain, gallstones, and an enlarged spleen. Signs usually begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin that is very sensitive to sunlight
- Itching
- Redness of the skin
- Belly pain
- Gallstones
- Liver damage
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 blood and bone marrow specialists, genetic specialists, kidney specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FECH 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
- Blood and bone marrow specialists (hematologists); 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
EPP is caused by changes in the FECH gene, which lower the activity of an enzyme needed to make heme. GARD's summary says inheritance is autosomal recessive, though GARD lists dominant as well.
Also known as: epp
Patient organizations
- American Porphyria FoundationAutosomal erythropoietic protoporphyria · United States
- United Porphyrias AssociationAutosomal erythropoietic protoporphyria · 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 Autosomal erythropoietic protoporphyria.
Explore research for Autosomal erythropoietic protoporphyria
Explore actively recruiting Autosomal erythropoietic protoporphyria studies with HealthSpark.
Find actively recruiting studies for Autosomal erythropoietic protoporphyria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Autosomal erythropoietic protoporphyria studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Autosomal erythropoietic protoporphyria
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Autosomal erythropoietic protoporphyria experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.