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

Abstract

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. [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. Aim:To study the porphyria frequency in Brazil by Associação Brasileira de Porfiria (ABRAPO-Brazilian Porphyria Association). 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. 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. 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.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

“…In Brazilian patients, AIP represents 59% of cases, HCP 4%, VP 2.5%, and Doss porphyria less than 1%. Compared to the EXPLORE study, a similar profile of age at onset is identified in AHP subtypes: 40 years in AIP, 38 years in HCP, 39 years in VP, and 36 years in Doss porphyria 7 .…”

“…Its clinical course is similar to but more severe than that of other AHPs due to almost complete enzymatic deficiency (less than 3% of normal enzyme activity). Biochemical work-up shows ALA increases in plasma and urine, elevated urinary coproporphyrin, and erythrocyte protoporphyrin 7,15,43,44 .…”

“…ALADP is an extremely rare presentation, with little more than a dozen cases identified 1,2,5,6 . In Brazil, epidemiological data result from information published by the Brazilian Porphyria Association (Associação Brasileira de Porfíria -ABRAPO) and reveal a similar prevalence of AHPs, except for the low occurrence of VP in the country 7 .…”