Terminal hepatic failure in erythropoietic protoporphyria.
Erythropoietic protoporphyria is an inherited disorder characterized biochemically by a deficiency of ferrochelatase, the enzyme that catalyzes the incorporation of ferrous iron into protoporphyrin to form heme. We describe a patient who illustrates the unpredictability of the course of liver disease in erythropoietic protoporphyria. She remained stable for several years after her first evidence of liver function abnormalities. Then, in a period of weeks, hepatic failure developed and she died. Findings of serial liver biopsy specimens showed extensive hepatocellular degeneration and inflammation that appeared in a 10-day period. The factors that cause this rapid deterioration in hepatic function remain unknown. Reported cases of fatal hepatic failure in patients with erythropoietic protoporphyria are reviewed.
Mercurio
M G
MG
Department of Dermatology, University Hospitals of Cleveland, Case Western Reserve University, OH 44106.
Prince
G
G
Weber
F L
FL
Jacobs
G
G
Zaim
M T
MT
Bickers
D R
DR
D001219:Aspartate Aminotransferases / Q000378:metabolism; D005260:Female; D006501:Hepatic Encephalopathy / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D017093:Liver Failure / Q000175:diagnosis / Q000209:etiology; D008875:Middle Aged; D017121:Porphyria, Hepatoerythropoietic / Q000150:complications* / Q000201:enzymology / Q000628:therapy
D001219:Aspartate Aminotransferases