Living with Erythropoietic protoporphyria
A rare condition present from birth that causes painful skin reactions to sunlight.
Understanding Erythropoietic protoporphyria
It is present from birth. Because the body cannot make heme properly, people can have severe skin reactions to sunlight (photosensitivity), with blisters and scars on skin exposed to sun. Other signs can include reddish-brown teeth, red urine, breakdown of red blood cells (hemolytic anemia), and an enlarged spleen.
Signs & symptoms
GARD doesn't list specific symptoms here. Its summary describes:
- Severe skin reaction to sunlight (photosensitivity)
- Blisters and scars on sun-exposed skin
- Reddish-brown teeth
- Red-colored urine
- Breakdown of red blood cells (hemolytic anemia)
- Enlarged spleen
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
American Porphyria Foundation 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
- 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
Changes in genes cause this condition, which affects how the body makes heme. GARD does not name the gene here.
Also known as: epp; epp - erythropoietic protoporphyria; epp (erythropoietic protoporphyria porphyria); erythrohepatic protoporphyria; magnus syndrome; protoporphyria
Patient organizations
- American Porphyria FoundationErythropoietic 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 Erythropoietic protoporphyria.
Explore research for Erythropoietic protoporphyria
Explore actively recruiting Erythropoietic protoporphyria studies with HealthSpark.
Find actively recruiting studies for 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 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 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 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.