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The Panorama of Primary Angioedema in the Brazilian Population

The Panorama of Primary Angioedema in the Brazilian Population

Authors :
Gustavo Pafume de Sá
Leda das Neves Almeida Sandrin
Caio Perez Gomes
Regis A. Campos
Eliana de Toledo
Ana Paula Beltran Moschione Castro
Camila Lopes Veronez
Nelson Augusto Rosário Filho
Elke C. Ferreira Mascarenhas
Camila A. Campos Teixeira
Laila Sabino Garro
Solange Rodrigues Valle
Caroliny Souza Leite
Agatha Ribeiro Mendes
Fernanda Casares Marcelino
Leandro Augusto Vilela Rabelo
Ana Julia R. M. Teixeira
Anete Sevciovic Grumach
Fernanda Gontijo Minafra
Luiz Fernando Bacarini Leite
Carolina Sanchez Aranda
Nathália Cagini
Eli Mansour
Joanemile P. Figueiredo
Luis Felipe Ensina
Herberto José Chong-Neto
Clarissa Soares Tavares
Gabriela Andrade Coelho Dias
Pedro Rocha Rolins Neto
Raphael Coelho Figueredo
Pedro Giavina-Bianchi
Ronney Corrêa Mendes
Carolina Guth
Jackeline Motta Franco
Helena F. Velasco
Cristiane Alves Boll
Ekaterini Goudouris
Therezinha Ribeiro Moyses
Ellaine Dóris Fernandes Carvalho
Jane da Silva
Fernanda Lugão Campinhos
Faradiba Sarquis Serpa
Miguel Alberto Piccirillo
Rizzo Mc
M. Bernardes
Maria Denise Fernandes Carvalho de Andrade
Ana Carolina Martins Pinto Swensson
João Bosco Pesquero
Janaíra Fernandes Ferreira
Rozana Fátima Gonçalves
Valéria Soraya de Farias Sales
Ludmilla Luzia Pires Amaral Resende
Natasha Rebouças Ferraroni
Thais Bomfim Teixeira
Adriana Pereira de Lira Marques
Ana Carolina da Matta Ain
Source :
The journal of allergy and clinical immunology. In practice. 9(6)
Publication Year :
2020

Abstract

Background Primary angioedema (PA) is a complex disorder, presenting multiple hereditary (hereditary angioedema) and acquired subtypes (acquired angioedema). Despite a very similar clinical presentation among subtypes, the differential diagnosis is limited by the difficulty to identify bradykinin-mediated PA and the lack of specific biomarkers. Objectives To report the clinical and genetic features of Brazilian patients with PA. Methods Brazilian patients referred from 50 centers were diagnosed on the basis of clinical symptoms, C1 inhibitor (C1-INH) and C4 plasma measurements, and DNA sequencing of genes associated with hereditary angioedema. Results We characterized 92 patients with acquired angioedema and 425 with HAE: 125 with C1-INH deficiency, 180 with F12 mutations, and 120 of unknown cause. Thirty-one different mutations were identified in SERPING1 and 2 in F12, in addition to 2 mutations of uncertain significance in the ANGPT1 gene. The molecular diagnosis was decisive for 34 patients with HAE without family history, and for 39% of patients with inconsistent biochemical measurements. The median delay in diagnosis was 10 years, with a maximum of 18 years for HAE with C1-INH deficiency. Androgens and tranexamic acid were the most used drugs for long-term prophylaxis in all the PA subtypes, and they were used on demand by 15% of patients. Only 10% of patients reported the use of specific medication for HAE during attacks. Conclusions Our analysis exposes a broad picture of PA diagnosis and management in a developing country. Complement measurements presented considerable inconsistencies, increasing the diagnosis delay, while patients with PA with normal C1-INH remain with an inaccurate diagnosis and unspecific treatment.

Details

ISSN :
22132201
Volume :
9
Issue :
6
Database :
OpenAIRE
Journal :
The journal of allergy and clinical immunology. In practice
Accession number :
edsair.doi.dedup.....24055811da2aa85479fcc0cc1b12463a