TERMINAL HEPATIC-FAILURE IN ERYTHROPOIETIC PROTOPORPHYRIA

Erythropoietic protoporphyria is an inherited disorder characterized b iochemically by a deficiency of ferrochelatase, the enzyme that cataly zes the incorporation of ferrous iron into protoporphyrin to form heme . We describe a patient who illustrates the unpredictability of the co urse of liver disease in erythropoietic protoporphyria. She remained s table for several years after her first evidence of liver function abn ormalities. Then, in a period of weeks, hepatic failure developed and she died. Findings of serial liver biopsy specimens showed extensive h epatocellular degeneration and inflammation that appeared in a 10-day period. The factors that cause this rapid deterioration in hepatic fun ction remain unknown. Reported cases of fatal hepatic failure in patie nts with erythropoietic protoporphyria are reviewed.