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  • Title: Hepatic failure and death from erythropoietic protoporphyria.
    Author: Singer JA, Plaut AG, Kaplan MM.
    Journal: Gastroenterology; 1978 Mar; 74(3):588-91. PubMed ID: 631490.
    Abstract:
    A 60-year-old white male presenting with a clinical picture of obstructive jaundice was subsequently found to have erythropoietic protoporphyria. The diagnosis was suspected because of a history of life-long photosensitivity and was confirmed by finding high levels of erythrocyte protoporphyrin. Liver biopsy revealed birefringent deposits of protoporphyrin by polarization microscopy accompanied by severe hepatic injury and fibrosis. The patient died rapidly from liver failure, and at autopsy the biliary tree was patent. Despite the autosomal dominant transmission of erythropoietic protoporphyria, we failed to detect any family members with the disease. This report is concluded with a brief discussion of the liver involvement in erythropoietic protoporphyria.
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