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

Dig Dis Sci. 2002 Feb;47(2):419-26. doi: 10.1023/a:1013746828074.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alcohol Drinking / epidemiology
  • Estrogens / administration & dosage
  • Female
  • HIV Infections / complications
  • Hemochromatosis / genetics*
  • Hepatitis C / complications*
  • Humans
  • Mutation*
  • Porphyria Cutanea Tarda / etiology*
  • Porphyria Cutanea Tarda / genetics
  • Risk Factors
  • Smoking / epidemiology
  • Uroporphyrinogen Decarboxylase / deficiency*

Substances

  • Estrogens
  • Uroporphyrinogen Decarboxylase