Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients

Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):845-52.


Erythrocyte uroporphyrinogen decarboxylase (UROD) activity was measured to classify 118 Spanish patients with porphyria cutanea tarda (PCT) into three subtypes: sporadic-, familial- and type III-PCT. Seventy-four patients (63%) had eythrocyte UROD activity within the normal range (74% to 126% of the mean activity of 43 healthy controls) and were classified as sporadic-PCT (47%) or as type III-PCT (16%) whenever a family history of PCT was documented. Forty-four patients (37%) had decreased UROD activity and were classified as familial-PCT. The frequency of both familial-PCT and type III-PCT was higher than reported in other countries. The clinical expression of PCT was associated with the coexistence of two or more risk factors in 80% of the sporadic-PCT patients and in 89% of the familial-PCT patients. Hepatitis C virus and alcohol abuse were risk factors frequently found in these patients, being unrelated to age of onset of skin lesions. A heavy alcohol intake was the main risk factor for type III-PCT. Estrogens appeared as a precipitating factor for women with familial-PCT. The H63D mutation in the hemochromatosis type 1 gene was more frequently found than the C282Y mutation. Both mutations appeared to play a role as precipitating factors in sporadic-PCT when associated with hepatitis C virus infection and alcohol abuse.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Alcohol Drinking
  • Alleles
  • Estrogens / metabolism
  • Family Health
  • Female
  • Genetic Predisposition to Disease
  • Hemochromatosis / genetics
  • Hemochromatosis Protein
  • Hepatitis C / complications
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation
  • Porphyria Cutanea Tarda / diagnosis*
  • Porphyria Cutanea Tarda / etiology
  • Porphyria Cutanea Tarda / genetics*
  • Porphyria Cutanea Tarda / virology
  • Risk Factors
  • Spain
  • Uroporphyrinogen Decarboxylase / blood


  • Estrogens
  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Uroporphyrinogen Decarboxylase