Insights From the First 820 Patients From the Brazilian Multicenter Registry of Hereditary Angioedema: The Key Role of Genetic Testing and Targeted Therapies.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Ferriani Mariana P L, Seneda Lemos José Eduardo, Arruda L Karla, Nunes Fernanda L, Dias Marina M, Kolarik Maitê L, Roxo-Junior Persio, Ferraro Maria Fernanda, Zanetti Maria Eduarda T, Serpa Faradiba S, Chong-Neto Herberto J, Minafra Fernanda G, Valle Solange O R, Campos Régis A, da Silva Jane, Mansour Eli, Gonçalves Rozana F, Toledo Eliana C, Marcelino Fernanda C, Moreira Iramirton F, Azoubel-Antunes Adriana, Ferreira Janaira F S, Dias Gabriela A C, Aun Marcelo V, Castro Ana Paula B M, Oliva-Alonso Maria L, Batigalia Vanessa A, Tavares Clarissa L T S V, Capelo Albertina V, Moyses Therezinha R, Rosário Filho Nelson A, Jannuzzi Lucca N P, Fragnan Nyla T M L, Figueiredo Joanemile P, Fonseca Joice T, Teixeira Ana Julia R, Nasser Nayara M F, Ferraroni Natasha R, Mendonça Leonardo O, Iwashita Márcia T, Prado Alex I F, Tumelero Melissa T, Machado Julianne A, Kamoi Tsukiyo O, Ferrel Luciana M, Barbosa Adriana M S C, de Moraes Caroline G F B, Kruk Tatielly, Figueiredo Mariana R, Moraes Maria Stela Y, Moreno Adriana S, Maia Luana S M, Traina Fabiola, Ruy Patricia C, Pesquero João B, Bork Konrad, Cichon Sven, Aragon Davi C, Giavina-Bianchi Pedro, Grumach Anete S
Аннотация
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.