Erythropoietic protoporphyria

Erythropoietic protoporphyria is defined as a hereditary metabolic disorder and belongs to the group of porphyrias. This disorder is caused by a lack of ferrochelatase.

In Patients suffering from the disease, protoporphyrin can no longer bind iron, which is required for the formation of heme. 

Sun exposure can cause painful skin reddening, which burns and itches strong. Blisters may also occure in some cases, as well as etechiae and edema. The enrichment of protoporphyrins in the liver can cause liver failure. About 10% of cases suffer from liver complications, which can potentially be fatal.

Patients also have a risk for bile stones containing protoporphyrin.