Erythropoietic Protoporphyria With Hepatic Cirrhosis

Abstract

Cholestatic jaundice and rapidly deteriorating hepatic function developed in a 19-year-old man with a lifelong history of photosensitivity. Laboratory studies revealed the characteristic increased erythrocyte and fecal protoporphyrin levels of erythropoietic protoporphyria. Progressive hepatic failure was treated by orthotopic liver transplantation six months after the first clinical indication of hepatic dysfunction. Characteristic light microscopic, fluorescence microscopic, and electron microscopic findings of erythropoietic protoporphyria were present in skin and liver. Four weeks after liver transplantation, the patient died of disseminated candidiasis. At autopsy, the donor liver had no microscopic evidence of protoporphyrin accumulation, although tissue protoporphyrin levels were mildly elevated.