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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

The Panorama of Primary Angioedema in the Brazilian Population

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Author(s):
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
Total Authors: 7
Affiliation:
[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
Total Affiliations: 4
Document type: Journal article
Source: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE; v. 9, n. 6, p. 2293+, JUN 2021.
Web of Science Citations: 0
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. (C) 2020 American Academy of Allergy, Asthma \& Immunology (AU)

FAPESP's process: 13/02661-4 - Genetics of hereditary angioedema
Grantee:João Bosco Pesquero
Support Opportunities: Regular Research Grants
FAPESP's process: 15/25494-1 - Development of a gene therapy model for hereditary angioedema based on SERPING1 gene edition by CRISPR-Cas9 system
Grantee:Camila Lopes Veronez
Support Opportunities: Scholarships in Brazil - Post-Doctoral
FAPESP's process: 14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges
Grantee:João Bosco Pesquero
Support Opportunities: Research Projects - Thematic Grants