Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.
Cell Mol Biol (Noisy-le-grand). 2002 Dec; 48(8):845-52.CM

Abstract

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.

Authors+Show Affiliations

Cruz-Rojo J
Centro de Investigación, Hospital 12 de Octubre, Francisco Gervás, 9, 28020 Madrid, Spain.
Fontanellas A
No affiliation info available
Morán-Jiménez MJ
No affiliation info available
Navarro-Ordóñez S
No affiliation info available
García-Bravo M
No affiliation info available
Méndez M
No affiliation info available
Muñoz-Rivero MC
No affiliation info available
de Salamanca RE
No affiliation info available

MeSH

AdultAge of OnsetAlcohol DrinkingAllelesEstrogensFamily HealthFemaleGenetic Predisposition to DiseaseHemochromatosisHemochromatosis ProteinHepatitis CHistocompatibility Antigens Class IHumansMaleMembrane ProteinsMiddle AgedMutationPorphyria Cutanea TardaRisk FactorsSpainUroporphyrinogen Decarboxylase

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12699242