A case of erythropoietic protoporphyria with liver cirrhosis suggesting a therapeutic value of supplementation with alpha-tocopherol

Erythropoietic protoporphyria (EPP) was diagnosed in a 27-year-old man base d on a typical clinical history, and a marked increase in erythrocyte and f ecal protoporphyrin concentrations. Although liver disease is not a common feature in EPP, he had slight liver dysfunction. A percutaneous liver biops y was performed and it showed minimal hepatocellular damage and many reddis h brown pigment deposits in hepatocytes, Kupffer cells, portal histiocytes, bile canaliculi and small biliary radicles. Electron microscopic findings confirmed that these deposits were composed of protoporphyrin crystals. Liv er biochemistry remained well for > 2 years, but deteriorated rapidly and s econd liver biopsy obtained 28 months after the first biopsy revealed the d evelopment of liver cirrhosis. We treated the patient with intravenous admi nistration of dl-a-tocopherol acetate (vitamin E; 500 iU/body/day). Followi ng the administration of vitamin E, the concentration of protoporphyrin in erythrocytes decreased significantly and the liver function tests were impr oved. Sixteen weeks later he showed the full clinical and biochemical recov ery suggesting that vitamin E supplementation might be useful in treating p atients with EPP who developed liver damage. (C) 2000 Elsevier Science Irel and Ltd. All rights reserved.