An autopsy case of erythropoietic protoporphyria with cholestatic jaundice and hepatic failure, and a review of literature

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Abstract
A 43-year-old woman with a history of photosensitivity died of hepatic failure following 3 and a half months of unexplained jaundice. The liver was black, showed mild fibrosis and conspicuous pigment deposition in the cytoplasm of the hepatocytes, Kupffer cells and portal macrophages, and within dilated lumina of bile canaliculi and of ductules. The pigment disclosed a striking birefringence and numerous slender electron-dense crystals on electron microscopy. Similar crystals were also found within the cytoplasm of the ductular epithelium. Despite absence of cirrhosis observed in almost all previously described fatal cases the diagnosis of erythropoietic protoporphyria was made at autopsy. Mild inflammatory changes of the liver with marked protoporphyrin deposition so far have not been described in the cases observed at autopsy.