Porphyria cutanea tarda: Multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency

Norman G. Egger, Douglas E. Goeger, Deborah A. Payne, Emil P. Miskovsky, Steven A. Weinman, Karl E. Anderson

    Research output: Contribution to journalArticlepeer-review

    84 Scopus citations

    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.

    Original languageEnglish (US)
    Pages (from-to)419-426
    Number of pages8
    JournalDigestive Diseases and Sciences
    Volume47
    Issue number2
    DOIs
    StatePublished - 2002

    Keywords

    • HFE gene
    • Hemochromatosis
    • Hepatitis C
    • Iron
    • Porphyria
    • Uroporphyrinogen decarboxylase

    ASJC Scopus subject areas

    • Physiology
    • Gastroenterology

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