Living with Familial porphyria cutanea tarda
A genetic metabolic condition in which sun-exposed skin becomes fragile and blisters, caused by changes in the UROD gene.
Understanding Familial porphyria cutanea tarda
The gene change limits how much heme is made, and porphyrins build up in the skin and liver. Not everyone develops symptoms. When they do, sun-exposed skin may be fragile and blister, and may get infected, scar, grow extra hair, or change color. Symptoms may worsen with alcohol, certain chemicals, hepatitis C or HIV, estrogen drugs, and high iron levels.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Fragile skin in sun-exposed areas
- Skin blisters
- Skin infections and scarring
- Extra hair growth
- Skin color changes
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 digestive system specialists, 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
- Digestive system specialists (gastroenterologists); 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
Changes in the UROD gene cause it. It is autosomal dominant, which means a single changed copy of the gene is enough.
Also known as: hereditary porphyria cutanea tarda; pct; pct (porphyria cutanea tarda) type ii; pct, ''familial'' type; pct, type ii; porphyria cutanea tarda type ii
Patient organizations
- American Porphyria FoundationFamilial porphyria cutanea tarda · United States
- United Porphyrias AssociationFamilial porphyria cutanea tarda · 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 Familial porphyria cutanea tarda.
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