What's erythropoietic protoporphyria?
Erythropoietic protoporphyria is a rare inherited disorder of heme production. Protoporphyrin IX builds up in the body, causing painful reactions to light and, in some people, disease of the liver and bile ducts.
| Also indexed as | ORPHA:79278, MONDO:0019263 |
|---|---|
| Features mapped | 8 |
| Treatments mapped | 1 |
| Published sources | 9 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Abnormal circulating porphyrin concentration
Erythropoietic protoporphyria is a rare inherited condition affecting how the body makes heme, a building block of red blood cells. Protoporphyrin IX builds up as a result, bringing painful reactions to light and problems affecting the liver and bile ducts.
Edema
During a phototoxic reaction to light, the affected skin can swell, as well as redden and hurt.
Erythema
When skin is exposed to visible light, a phototoxic reaction follows, bringing redness of the skin, pain, and swelling.
Cirrhosis
In severe liver involvement, scarring of the liver (cirrhosis) can develop; in one reported case it was confirmed on biopsy showing protoporphyrin deposits.
Cholelithiasis
Problems of the liver and bile ducts affect around one in twenty people with this condition. They include gallstones, raised liver enzymes, deepening jaundice, and end-stage liver disease.
Pruritus
Mild itching, along with a rash over the areas of skin exposed to light, was the usual presentation in one group studied.
Cutaneous photosensitivity
A build-up of protoporphyrin IX is what makes the skin painfully sensitive to light in this condition, and that pain can weigh heavily on daily life.
Burning pain after light exposure
Light exposure brings on severe burning pain in the skin, and living with it markedly reduces quality of life.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
afamelanotide
Afamelanotide is the only approved treatment for erythropoietic protoporphyria. It increases the body's tolerance to light and improves quality of life.
Used to help with: Autosomal erythropoietic protoporphyria.
“Afamelanotide, an α-melanocyte-stimulating hormone analogue, is the only approved treatment for protoporphyria and leads to increased light tolerance and improved quality of life (QoL).”
How to read the evidence labels
Where this comes from
This guide is built from 9 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.