title: Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
abstract: The coexistence of factors considered to contribute to development of porphyria cutanea tarda was studied in 39 consecutive patients. Highly prevalent factors were alcohol intake in 79%, smoking in 86%, hepatitis C virus infection in 74%, estrogen use in 73% of 11 females, and at least one mutation in the HFE (hereditary hemochromatosis) gene in 65%. The C282Y mutation was found in 29%, H63D in 47%, and S65C in 0%. HFE genotypes included C282Y/C282Y in 9%, H63D/H63D in 9%, C282Y/H63D in 12%, C282Y/wild type in 9%, and H63D/wild type in 26%. Less prevalent were HIV infection in 15% (or 25% of those tested, N = 24) and erythrocyte uroporphyrinogen decarboxylase deficiency, which distinguishes familial (type 2) from "sporadic" (type 1) porphyria cutanea tarda, in 19%. Multiple contributing factors coexisted in both types 1 and 2, with 92% of all patients having three or more factors. These observations indicate that this porphyria is multifactorial in the individual patient, and therefore is seldom attributable to a single identifiable cause. Profiling for all potentially contributing factors is important for individualizing management.
authors.affiliation: Department of Preventive Medicine and Community Health, The University of Texas Medical Branch, Galveston 77555-1109, USA.
authors.forename: Norman G
authors.initials: NG
authors.lastname: Egger
authors.forename: Douglas E
authors.initials: DE
authors.lastname: Goeger
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Payne
authors.forename: Emil P
authors.initials: EP
authors.lastname: Miskovsky
authors.forename: Steven A
authors.initials: SA
authors.lastname: Weinman
authors.forename: Karl E
authors.initials: KE
authors.lastname: Anderson
mesh_terms: D000428:Alcohol Drinking / Q000453:epidemiology; D004967:Estrogens / Q000008:administration & dosage; D005260:Female; D015658:HIV Infections / Q000150:complications; D006432:Hemochromatosis / Q000235:genetics*; D006526:Hepatitis C / Q000150:complications*; D006801:Humans; D009154:Mutation; D017119:Porphyria Cutanea Tarda / Q000209:etiology* / Q000235:genetics; D012307:Risk Factors; D012907:Smoking / Q000453:epidemiology; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency*
chemical_list: D004967:Estrogens; D014575:Uroporphyrinogen Decarboxylase