Diretrizes brasileiras do angioedema hereditário 2022 – Parte 1: definição, classificação e diagnóstico
2022 Brazilian guidelines for hereditary angioedema – Part 1: definition, classification, and diagnosis
Régis A. Campos; Faradiba Sarquis Serpa; Eli Mansour; Maria Luiza Oliva Alonso; Luisa Karla Arruda; Marcelo Vivolo Aun; Maine Luellah Demaret Bardou; Ana Flávia Bernardes; Fernanda Lugão Campinhos; Herberto Jose Chong-Neto; Rosemeire Navickas Constantino-Silva; Jane da Silva; Sérgio Duarte Dortas-Junior; Mariana Paes Leme Ferriani; Joanemile Pacheco de Figueiredo; Pedro Giavina-Bianchi; Lais Souza Gomes; Ekaterini Goudouris; Anete Sevciovic Grumach; Marina Teixeira Henriques; Antônio Abilio Motta; Therezinha Ribeiro Moyses; Fernanda Leonel Nunes; Jorge A. Pinto; Nelson Augusto Rosario-Filho; Norma de Paula M. Rubini; Almerinda Maria do Rêgo Silva; Dirceu Solé; Ana Julia Ribeiro Teixeira; Eliana Toledo; Camila Lopes Veronez; Solange Oliveira Rodrigues Valle
Resumo
O angioedema hereditário é uma doença autossômica dominante caracterizada por crises recorrentes de edema que acometem o tecido subcutâneo e o submucoso, com envolvimento de diversos órgãos. Os principais locais afetados são face, membros superiores e inferiores, as alças intestinais e as vias respiratórias superiores. Em decorrência da falta de conhecimento dessa condição por profissionais de saúde, ocorre atraso importante no seu diagnóstico, comprometendo a qualidade de vida dos indivíduos afetados. Além disso, o retardo no diagnóstico pode resultar em aumento da mortalidade por asfixia devido ao edema de laringe. A natureza errática das crises com variação do quadro clínico e gravidade dos sintomas entre diferentes pacientes, e no mesmo paciente ao longo da vida, se constitui em desafio no cuidado dos doentes que têm angioedema hereditário. O principal tipo de angioedema hereditário é resultante de mais de 700 variantes patogênicas do gene SERPING1 com deficiência funcional ou quantitativa da proteína inibidor de C1, porém nos últimos anos outras mutações foram descritas em seis outros genes. Ocorreram avanços importantes na fisiopatologia da doença e novas drogas para o tratamento do angioedema hereditário foram desenvolvidas. Nesse contexto, o Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH) em conjunto com a Associação Brasileira de Alergia e Imunologia (ASBAI) atualizou as diretrizes brasileiras do angioedema hereditário. O maior conhecimento dos diversos aspectos resultou na divisão das diretrizes em duas partes, sendo nessa primeira parte abordados a definição, a classificação e o diagnóstico.
Palavras-chave
Abstract
Hereditary angioedema is an autosomal dominant disease characterized by recurrent attacks of edema that affect the subcutaneous tissue and the submucosa, involving several organs. The main affected sites are the face, upper and lower limbs, gastrointestinal tract, and upper airways. Because health professionals lack knowledge about this condition, there is a significant delay in diagnosis, compromising the quality of life of affected individuals. Furthermore, delayed diagnosis may result in increased mortality from asphyxia due to laryngeal edema. The erratic nature of the attacks with variations in clinical course and severity of symptoms among different patients and in one patient throughout life constitutes a challenge in the care of patients with hereditary angioedema. The main type of hereditary angioedema results from more than 700 pathogenic variants of the SERPING1 gene with functional or quantitative deficiency of the C1 inhibitor protein, but in recent years other mutations have been described in six other genes. Important advances have been made in the pathophysiology of the disease, and new drugs for the treatment of hereditary angioedema have been developed. In this context, the Brazilian Study Group on Hereditary Angioedema (GEBRAEH) in conjunction with the Brazilian Association of Allergy and Immunology (ASBAI) updated the Brazilian guidelines on hereditary angioedema. Greater knowledge of different aspects resulted in the division of the guidelines into two parts, with definition, classification, and diagnosis being addressed in this first part.
Keywords
References
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Submitted date:
04/02/2022
Accepted date:
04/08/2022
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