The Panorama of Primary Angioedema in the Brazilian Population

Autor(es)

Veronez, Camila Lopes ^{[1, 2, 3]} ; Mendes, Agatha Ribeiro ^[1] ; Leite, Caroliny Souza ^[1] ; Gomes, Caio Perez ^[1] ; Grumach, Anete Sevciovic ^[4] ; Pesquero, Joao Bosco ^[1] ; Brazili, Hereditary Angioedema

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Dept Biophys, Sao Paulo - Brazil

^[2] Univ Calif San Diego, Dept Med, Div Rheumatol Allergy & Immunol, San Diego, CA 92103 - USA

^[3] San Diego Vet Affairs Healthcare, Res Serv, San Diego, CA - USA

^[4] Ctr Univ Saude ABC, Fac Med, Clin Immunol, Santo Andre, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE; v. 9, n. 6, p. 2293+, JUN 2021.
• Citações Web of Science: 0

Resumo

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. (C) 2020 American Academy of Allergy, Asthma \& Immunology (AU)

• Processo FAPESP: 13/02661-4 - Genética do angioedema hereditário
• Beneficiário: João Bosco Pesquero
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 15/25494-1 - Desenvolvimento de um modelo de terapia gênica para angioedema hereditário baseado na edição do gene SERPING1 pelo sistema CRISPR-Cas9
• Beneficiário: Camila Lopes Veronez
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado
• Processo FAPESP: 14/27198-8 - Estabelecimento de um centro de pesquisa genética e molecular para desafios clínicos
• Beneficiário: João Bosco Pesquero
• Modalidade de apoio: Auxílio à Pesquisa - Temático