Porphyria: Analysis of Register from Brazilian Association of Porphyria (ABRAPO)

Abstract

1.1.Background:The porphyria is a group of rare metabolic disorders that arise from deficiencies in the heme biosynthetic pathway. The prevalence in Europe is 1-2:100,000 inhabitants. These disorders occur mostly due to mutations in the genes encoding enzymes involved in heme production. They are classified and divided into acute (ALA Dehydratase Deficiency [ALADP], Acute Intermittent Porphyria [AIP], Variegate Porphyria [VP], Hereditary Coproporphyria [HCP]), chronic (Congenital Erythropoietic Porphyria [CEP], Erythropoietic Porphyria [EPP], Porphyria Cutanea Tarda [PCT] and Hepato Erythropoietic Porphyria [HEP]). AIP is the most common form of hepatic porphyria and symptoms are often begin after puberty and consist of acute neurovisceral signs, abdominal pain, vomiting, constipation, tachycardia, fever, hypertension and alterations in the central nervous system. 1.2.Aim:To study the porphyria frequency in Brazil by Associacao Brasileira de Porfiria (ABRAPO- Brazilian Porphyria Association). 1.3.Methods:We study the frequency of porphyria in 439 cases of patients with porphyria diagnosis from ABRAPO from 2007 to 2015 and data were analyzed with Microsoft Excel® program. 1.4.Results:We analyzed 439 cases consisting of 74.2% female. 59% percent had been diagnosed with AIP, 22% PCT, 4% HCP, 4% EPP, 2.5% VP, 1.1% CEP, 0.9% HEP and 0.4% ALADP. 1.5.Conclusion:Our analysis revealed similar epidemiological characteristics as seen in the United States and United Kingdom. In Brazil, porphyria should be studied more carefully to assess, properly diagnosis and treatment.