Erythropoietic protoporphyria: hepatic cirrhosis

Observations on liver pathology and function were made on 12 patients with erythropoietic protoporphyria (EPP). Needle liver biopsies in 3 of 11 patients showed mild portal or periportal fibrosis without evidence of abnormal liver function. One patient (Case 12), died from hepatic cirrhosis and failure at the age of 11 years, the youngest yet reported. He was not suspected of pending liver disease until 3 months before death. The quantity of protoporphyrin present in his liver was approximately 5.75% of total liver weight. Fatal liver disease in EPP has occurred in 13 patients, 7 male and 6 female, in which the mean age of death was 38 years. The pathology of the liver in EPP is characteristic and is described.