Angioedema hereditário com deficiência do Inibidor de C1 – Armadilhas no diagnóstico, tratamento e compreensão
Hereditary angioedema with C1 inhibitor deficiency: traps in the diagnosis, treatment, and understanding
Camilla Resende da Matta Amaral Brum; Sérgio Duarte Dortas-Junior; Leticiane Munhoz Socreppa; Maria Luiza Oliva Alonso; Alfeu Tavares França; Solange Oliveira Rodrigues Valle
Resumo
Angioedema hereditário (AEH) é uma condição rara, subdiagnosticada e de elevada morbimortalidade, devido ao caráter de suas manifestações clínicas. O AEH se diferencia do angioedema histaminérgico por não responder aos anti-histamínicos, corticosteroides ou epinefrina. Por esse motivo, é extremamente importante o diagnóstico dessa situação, a fim de instituir a terapia adequada. Tal afecção deve ser suspeitada a partir da história clínica de episódios imprevisíveis e recorrentes de edema que quando se manifesta sob a forma de edema laríngeo, pode levar a óbito por asfixia, se não for adequadamente tratado. Relatamos o caso de uma paciente de 18 anos que, apesar de previamente diagnosticada com AEH tipo 1, ao procurar um serviço de emergência devido a crise de angioedema, não dispunha de medicação específica nem apresentou plano de ação com as opções possíveis para crises. Este caso reforça a necessidade de maior divulgação da doença, além da conscientização de pacientes e familiares sobre a doença e eventuais crises, assim como o acesso as medicações.
Palavras-chave
Abstract
Hereditary angioedema (HAE) is a rare, underdiagnosed condition with high morbidity and mortality due to the characteristics of its clinical presentation. HAE differs from histaminergic angioedema by not responding to antihistamines, corticosteroids, or epinephrine. Therefore, early diagnose is crucial to initiate adequate therapy. HAE is suspected in patients with a clinical history of unpredictable and recurrent episodes of edema. When laryngeal edema occurs, it can lead to death from asphyxiation if not treated properly. We report the case of an 18-year-old patient previously diagnosed with HAE type 1 who sought emergency care during an angioedema attack. However, the patient was not taking any specific medication and did not have an action plan to manage attacks. This case highlights the importance of increasing awareness about the disease, educating patients and their families about the disease and potential attacks, and ensuring access to medications.
Keywords
Referências
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Submetido em:
12/09/2023
Aceito em:
12/11/2023
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