The diagnosis and management of erythropoietic protoporphyria.

Porphyrias are a group of metabolic disorders resulting from enzymatic defects in the heme biosynthetic pathway. Erythropoietic protoporphyria is thought to be the second most common porphyria seen in clinical practice. It is, however, commonly under-recognized and can lead to both cutaneous manifestations as well as derangement in hepatic function in a minority of patients. This review summarizes the current understanding of this disorder. Different treatment options are discussed with the goal of preventing liver damage. The roles of liver and bone marrow transplantation are also addressed.