A case of erythropoietic protoporphyria who was diagnosed genetically and whose serial liver specimens showed significant progression of fibrosis

A 48-year-old man with liver dysfunction was referred to our hospital and was hospitalized for diagnosis in March 2016. He had been pointed our liver dysfunction since 2006 and liver biopsy was performed in another hospital in October 2014, but the cause of liver dysfunction was unknown. His liver biopsy tissue showed significant bile plugs in the expanded bile ducts. Notably, progression of hepatic fibrosis was demonstrated in comparison with the liver tissue obtained 1 year and 5 months ago. We recognized that he had had skin sunlight hypersensitivity from early childhood by focused history taking. Then we examined protoporphyrin in his red blood cells and conducted genetic test, and diagnosed him as erythropoietic protoporphyria (EPP). In spite of the risk of development to liver cirrhosis, there is no curative therapy for EPP at this time and it was thought that thorough shading is necessary. This EPP case is considered valuable because the serial changes in the liver tissue were observed.