Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.
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.
Cruz-Rojo
J
J
Centro de Investigación, Hospital 12 de Octubre, Francisco Gervás, 9, 28020 Madrid, Spain.
Fontanellas
A
A
Morán-Jiménez
M J
MJ
Navarro-Ordóñez
S
S
García-Bravo
M
M
Méndez
M
M
Muñoz-Rivero
M C
MC
de Salamanca
R Enríquez
RE
D000328:Adult; D017668:Age of Onset; D000428:Alcohol Drinking; D000483:Alleles; D004967:Estrogens / Q000378:metabolism; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006432:Hemochromatosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D006526:Hepatitis C / Q000150:complications; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D017119:Porphyria Cutanea Tarda / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics* / Q000821:virology; D012307:Risk Factors; D013030:Spain; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood
D004967:Estrogens; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014575:Uroporphyrinogen Decarboxylase