title: Porphyria cutanea tarda in south-east New South Wales.
abstract: Thirteen patients with porphyria cutanea tarda diagnosed between 1994 and 2000 were reviewed to evaluate the precipitating factors and associations of porphyria cutanea tarda in a regional area of coastal and rural NSW. The majority had more than one precipitating factor, with excess alcohol intake, mutations in the haemochromatosis gene, chronic hepatitis C infection and oestrogen therapy being the most common. Antibodies to the hepatitis C virus were detected in 25% and these patients presented at a younger age. Of the patients tested for the two known haemochromatosis gene mutations, six (46%) had at least one copy of the C282Y mutation. Two (15%) patients were homozygous for the C282Y mutation and two (15%) were compound heterozygous for the C282Y and H63D mutations. All patients responded to venesection, which is the treatment of choice for the majority of patients with porphyria cutanea tarda.
authors.affiliation: Nowra, New South Wales, Australia. olahand@shoalhaven.net.au
authors.forename: Ian
authors.initials: I
authors.lastname: McCrossin
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017119:Porphyria Cutanea Tarda / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D012189:Retrospective Studies