title: Acute intermittent porphyria: biochemical and clinical analysis in the Argentinean population.
abstract: Acute intermittent porphyria (AIP) is the most common type of hepatic acute porphyria. In this work, we have analyzed the biochemical data of all Argentinean AIP families studied in the Porphyrins and Porphyrias Research Centre (CIPYP). We have shown that: (i) the prevalence for this population is about 1:125,000; (ii) the disease is more frequent in women than in men (7:3); (iii) about 60% are latent carriers; (iv) 15% of patients with symptomatic AIP died during an acute attack; (v) the most important precipitating factors of acute attacks in our population were the ingestion of therapeutic drugs (25%), anesthetics in surgical interventions (25%) and infections (20%); (vi) the initial symptom in Argentinean AIP individuals is severe abdominal pain (100%), and it is often accompanied by constipation (37%), anorexia (37%) and tachycardia (30%); and (vii) the percentage of recurrence of the acute attacks is high (81%).
authors.affiliation: Research Fellows at the CONICET, Centro de Investigaciones sobre Porfirinas y Porfirias, CONICET, University of Buenos Aires, Buenos Aires, Argentina.
authors.forename: A
authors.initials: A
authors.lastname: De Siervi
authors.forename: M V
authors.initials: MV
authors.lastname: Rossetti
authors.forename: V E
authors.initials: VE
authors.lastname: Parera
authors.forename: M
authors.initials: M
authors.lastname: Mendez
authors.forename: L S
authors.initials: LS
authors.lastname: Varela
authors.forename: A M
authors.initials: AM
authors.lastname: del C Batlle
mesh_terms: D000328:Adult; D001118:Argentina / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017118:Porphyria, Acute Intermittent / Q000453:epidemiology / Q000378:metabolism* / Q000401:mortality / Q000473:pathology*; D015995:Prevalence; D012737:Sex Factors