Insights from the first 820 patients from the Brazilian Multicenter Registry of Hereditary Angioedema: the key role of genetic testing and targeted therapies.
Mariana P L Ferriani, José Eduardo S Lemos, L Karla Arruda, Fernanda L Nunes, Marina M Dias, Maitê L Kolarik, Persio Roxo-Junior, Maria Fernanda Ferraro, Maria Eduarda T Zanetti, Faradiba S Serpa Fs, Herberto J Chong Neto, Fernanda G Minafra, Solange O R Valle, Régis A Campos, Jane da Silva, Eli Mansour, Rozana F Gonçalves, Eliana C Toledo, Fernanda C Marcelino, Iramirton F Moreira, Adriana Azoubel-Antunes, Janaira F S Ferreira, Gabriela A C Dias, Marcelo V Aun, Ana Paula, Maria Luiza O Alonso, Vanessa A Batigalia, Clarissa Ltsv Tavares, Albertina V Capelo, Therezinha R Moyses, Nelson A Rosário Filho, Lucca Np Jannuzzi, Nyla Tml Fragnan, Joanemile P de Figueiredo, Joice T da Fonseca, Ana Julia R Teixeira, Nayara Mf Nasser, Natasha R Ferraroni, Leonardo O Mendonça, Márcia T Iwashita, Alex I F Prado, Melissa T Tumelero, Julianne A Machado, Tsukiyo O Kamoi, Luciana M Ferrel, Adriana Msc Barbosa, Caroline Gfb de Moraes, Tatielly Kruk, Mariana R Figueiredo, Maria Stela Y Moraes, Adriana S Moreno, Luana Sm Maia, Fabiola Traina, Patricia C Ruy Pc, João B Pesquero, Konrad Bork, Sven Cichon, Davi C Aragon, Pedro Giavina-Bianchi, Anete S Grumach As
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引用次数: 0
Abstract
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 platform.
Results: Of the 820 HAE patients enrolled, 68.8% were female. Most (72.4%) presented HAE due to C1INH 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 to HAE-FXII (mean 11.2 years versus 19.4 years, respectively), and time for diagnosis was shorter in patients younger than 18 years-old, as compared to those 18 years-old and older (mean 1.8 years versus 14.5 years, respectively). Regarding treatment, 52.8% received first-line on-demand therapies (Icatibant or plasma-derived C1INH). 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%.
Conclusion: 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 long-term prophylaxis of HAE attacks remains limited.
期刊介绍：
JACI: In Practice is an official publication of the American Academy of Allergy, Asthma & Immunology (AAAAI). It is a companion title to The Journal of Allergy and Clinical Immunology, and it aims to provide timely clinical papers, case reports, and management recommendations to clinical allergists and other physicians dealing with allergic and immunologic diseases in their practice. The mission of JACI: In Practice is to offer valid and impactful information that supports evidence-based clinical decisions in the diagnosis and management of asthma, allergies, immunologic conditions, and related diseases.
This journal publishes articles on various conditions treated by allergist-immunologists, including food allergy, respiratory disorders (such as asthma, rhinitis, nasal polyps, sinusitis, cough, ABPA, and hypersensitivity pneumonitis), drug allergy, insect sting allergy, anaphylaxis, dermatologic disorders (such as atopic dermatitis, contact dermatitis, urticaria, angioedema, and HAE), immunodeficiency, autoinflammatory syndromes, eosinophilic disorders, and mast cell disorders.
The focus of the journal is on providing cutting-edge clinical information that practitioners can use in their everyday practice or to acquire new knowledge and skills for the benefit of their patients. However, mechanistic or translational studies without immediate or near future clinical relevance, as well as animal studies, are not within the scope of the journal.
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