Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.
BACKGROUND
Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil.


OBJECTIVE
Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepatitis C, HIV, alcoholism and estrogen) and their link with HFE mutations.


METHODS
An ambispective study of 60 patients with PCT was conducted during the period from 2003 to 2012. Serological tests for hepatitis C and HIV were performed and histories of alcohol abuse and estrogen intake were investigated. HFE mutations were identified with real-time PCR.


RESULTS
Porphyria cutanea tarda predominated in males and alcohol abuse was the main precipitating factor. Estrogen intake was the sole precipitating factor present in 25% of female patients. Hepatitis C was present in 41.7%. All HIV-positive patients (15.3%) had a history of alcohol abuse. Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group. HFE mutations had no association with the other precipitating factors.


CONCLUSIONS
Alcohol abuse, hepatitis C and estrogen intake are prevalent precipitating factors in our porphyria cutanea tarda population; however, hemochromatosis in itself can also contribute to the outbreak of porphyria cutanea tarda, which makes the research for HFE mutations necessary in these patients.
Department of Dermatology, Medical School, São Paulo University, Sao PauloSP, Brazil.
Fatima Mendonça Jorge
FM
Vieira
Maria Cristina
MC
Nakhle
Clarice Pires
CP
Abrantes-Lemos
Eduardo Luiz Rachid
EL
Cançado
Vitor Manoel Silva dos
VM
Reis
D000328:Adult; D017677:Age Distribution; D000437:Alcoholism / Q000150:complications; D002853:Chromatography, Liquid; D004967:Estrogens / Q000009:adverse effects; D005260:Female; D005787:Gene Frequency; D006432:Hemochromatosis / Q000235:genetics*; D006526:Hepatitis C / Q000150:complications; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D009154:Mutation / Q000235:genetics*; D017119:Porphyria Cutanea Tarda / Q000235:genetics*; D015985:Precipitating Factors; D060888:Real-Time Polymerase Chain Reaction; D012307:Risk Factors; D017678:Sex Distribution
D004967:Estrogens; D007501:Iron