A187 ERYTHROPOIETIC PROTOPORPHYRIA: AN UNUSUAL PRESENTATION OF ADVANCED LIVER FIBROSIS DURING INFANCY

摘要

BackgroundErythropoietic protoporphyria (EPP) is a rare disease caused by an inherited mutation in the FECH-Ferrochelatase gene. This heme synthesis disorder leads to impairment of iron insertion into the protoporphyrin IX ring to form heme, resulting in the accumulation of protoporphyrin in skin, plasma and liver. EPP has an estimated frequency of 1:75,000 to 1:200,000. Skin hypersensitivity begins during infancy upon light exposure. Advanced liver disease and liver failure are unusual reported in 1–4% of EPP patients.