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Ferriani, Mariana P. L.
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Lemos, Jose Eduardo Seneda
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Arruda, L. Karla
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Nunes, Fernanda L.
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Dias, Marina M.
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Kolarik, Maite L.
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Roxo-Junior, Persio
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Ferraro, Maria Fernanda
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Zanetti, Maria Eduarda T.
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Serpa, Faradiba S.
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Chong-Neto, Herberto J.
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Minafra, Fernanda G.
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Valle, Solange O. R.
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Campos, Regis A.
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da Silva, Jane
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Mansour, Eli
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Goncalves, Rozana F.
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Toledo, Eliana C.
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Marcelino, Fernanda C.
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Moreira, Iramirton F.
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Azoubel-Antunes, Adriana
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Ferreira, Janaira F. S.
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Dias, Gabriela A. C.
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Aun, Marcelo, V
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Castro, Ana Paula B. M.
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Oliva-Alonso, Maria L.
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Batigalia, Vanessa A.
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Tavares, Clarissa L. T. S. V.
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Capelo, Albertina, V
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Moyses, Therezinha R.
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Filho, Nelson A. Rosario
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Jannuzzi, Lucca N. P.
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Fragnan, Nyla T. M. L.
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Figueiredo, Joanemile P.
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Fonseca, Joice T.
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Teixeira, Ana Julia R.
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Nasser, Nayara M. F.
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Ferraroni, Natasha R.
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Mendonca, Leonardo O.
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Iwashita, Marcia T.
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Prado, Alex I. F.
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Tumelero, Melissa T.
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Machado, Julianne A.
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Kamoi, Tsukiyo O.
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Ferrel, Luciana M.
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Barbosa, Adriana M. S. C.
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de Moraes, Caroline G. F. B.
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Kruk, Tatielly
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Figueiredo, Mariana R.
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Moraes, Maria Stela Y.
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Moreno, Adriana S.
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Maia, Luana S. M.
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Traina, Fabiola
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Ruy, Patricia C.
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Pesquero, Joao B.
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Bork, Konrad
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Cichon, Sven
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Aragon, Davi C.
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Giavina-Bianchi, Pedro
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Grumach, Anete S.
Número total de Autores: 60
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| Tipo de documento: | Artigo Científico |
| Fonte: | JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE; v. 13, n. 11, p. 14-pg., 2025-11-15. |
| Resumo | |
BACKGROUND: Hereditary angioedema (HAE) is a rare autosomal dominant disorder with a prevalence of 1:50,000 individuals. Delayed diagnosis and deaths from asphyxia still occur. OBJECTIVE: To identify knowledge and management gaps regarding clinical, genetic, and therapeutic aspects of HAE in Brazil, aiming to improve patient care and outcomes. METHODS: A Brazilian multicenter HAE registry was established, with patients' data included by treating physicians using the REDCap (Research Electronic Data Capture) platform. RESULTS: Of the 820 patients with HAE enrolled, 68.8% were female. Most (72.4%) experienced HAE due to C1 inhibitor deficiency (HAE-C1INH), whereas 19.4% had HAE with normal C1INH caused by variants in the F12 gene (HAE-FXII). Onset of symptoms occurred earlier in HAE-C1INH as compared with HAE-FXII (mean 11.2 years vs 19.4 years, respectively), and time for diagnosis was shorter in patients younger than 18 years, as compared with those 18 years and older (mean 1.8 years vs 14.5 years, respectively). Regarding treatment, 52.8% received first-line on-demand therapies (icatibant or plasma-derived C1INH [pdC1INH]). Only 4.8% used first-line options for long-term prophylaxis (LTP), such as lanadelumab or subcutaneous/intravenous pdC1INH. Attenuated androgens were used for LTP in 52% of patients, with adverse effects reported for 34.8%. CONCLUSIONS: Brazilian patients with HAE share common aspects with global patients, including predominance in women, and HAE-C1INH as the most common subtype. Available genetic testing allowed for identification of a notable proportion of HAE-FXII (19.4% of the patients). Despite recent advances, access to first-line therapies for LTP of HAE attacks remains limited. (c) 2025 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). (J Allergy Clin Immunol Pract 2025;13:3104-17) (AU) | |
| Processo FAPESP: | 24/08485-8 - Centro para inteligência artificial em gestão de saúde |
| Beneficiário: | Alexandre Cláudio Botazzo Delbem |
| Modalidade de apoio: | Auxílio à Pesquisa - Programa Centros de Pesquisa Aplicada |