Porphyria cutanea tarda in Brazilian patients: Association with hemochromatosis C282Y mutation and hepatitis C virus infection

OBJECTIVE: Porphyria cutanea tarda (PCT) is commonly associated with iron o verload and hepatitis C virus (HCV) infection. Association between hemochro matosis C282Y or H63D mutations and PCT has been observed, although not uni formly, and iron overload is also commonly found in chronic HCV hepatitis. The aim of the present study was to investigate the frequency of C282Y and H63D mutations and HCV infection in Brazilian patients with PCT and their r elationship with iron overload. METHODS: Twenty-three patients (19 men) aged 39.6 +/- 11.1 yr were studied. All had dermatological lesions of PCT and high levels of urinary uroporphy rin. HCV infection and iron overload were investigated. DNA samples were an alyzed for the presence of HFE mutations. RESULTS: The frequency of C282Y was significantly higher in PCT patients th an in 278 healthy individuals (17.4% vs 4%, odds ratio = 5.1, 95% confidenc e interval 1.5-17.6, p = 0.02), whereas no difference was observed regardin g the H63D mutation (30.4% vs 31%, odds ratio = 1, 95% confidence interval 0.4-2.4, p = 1). Biochemical tests in PCT patients showed iron overload wit h transferrin saturation = 47.3 +/- 20.7% and ferritin = 566.8 +/- 425 ng/m l. Fifteen of 23 (65.2%) patients had HCV infection and alcohol ingestion w as observed in 17 of 23 (73.9%). CONCLUSIONS: PCT patients exhibited evidence of iron overload, a high frequ ency of HCV, and an association with C282Y mutation. These data further sup port the notion that both acquired and inherited factors contribute to the occurrence of PCT, and indicate that screening for C282Y map be justified i n PCT patients. (C) 2000 by Am. Cell. of Gastroenterology.