Living with Inherited porphyria
A group of genetic disorders affecting how the body makes heme, with effects on the nerves and skin.
Understanding Inherited porphyria
These problems make porphyrins and related substances build up in the body. Symptoms can affect the nervous system, the skin, or both. Types include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, ALAD deficiency porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, and hepatoerythropoietic porphyria.
Signs & symptoms
Symptoms depend on the type. GARD lists these:
- Abdominal pain
- Nausea
- Constipation
- Nerve damage
- Muscle weakness
- Sun sensitivity with blistering or skin 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 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 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
Defects in enzymes needed to make heme cause this group of conditions. Depending on the type, inheritance can be autosomal dominant or autosomal recessive.
Also known as: disorder of porphyrin and hem metabolism; hereditary porphyria; porphyria
Patient organizations
- American Porphyria FoundationInherited porphyria · United States
- United Porphyrias AssociationInherited 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 Inherited porphyria.
Explore research for Inherited porphyria
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