The Panorama of Primary Angioedema in the Brazilian Population
| Autor: | 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 |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Bradykinin C1-inhibitor 03 medical and health sciences 0302 clinical medicine medicine Immunology and Allergy Humans 030212 general & internal medicine Family history Angioedema biology business.industry Angioedemas Hereditary Sequence Analysis DNA medicine.disease Dermatology 030228 respiratory system Hereditary angioedema biology.protein Brazilian population medicine.symptom Differential diagnosis business Complement C1 Inhibitor Protein Tranexamic acid Brazil Rare disease medicine.drug |
| Zdroj: | The journal of allergy and clinical immunology. In practice. 9(6) |
| ISSN: | 2213-2201 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|