A case of erythropoietic protoporphyria with severe liver damage

Case is a 29-yr-old man, whose complaint was abdominal pain He had photosensitivity since childhood The paternal grandfather and the younger brother have photosensitivity. In November 2001, he admitted in the other hospital with liver dysfunction and was diagnosed as erythropoietic protoporphyria (EPP). In August 2005, he admitted with abdominal pain and jaundice and recovered with antibiotics In January 2006, he was referred to our hospital with mild elevation of ALT. In November 2006 and in May 2007, he admitted in our hospital with abdominal pain and jaundice, and recovered with antibiotics In August 2008, he admitted with the same symptoms. Erythrocyte protoporphyrin and total bilirubin continually elevated. He died from liver failure in November 2008. A small portion of EPP patients suffer from liver failure. The only effective treatment for liver failure of EPP is liver transplantation, which should be considered at appropriate timing of the disease course.