Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency

Bebiana Conde; Filipa Costa; Joana Gomes; António Paulo Lopes; Maria Alexandra Mineiro; Orlando Rodrigues; Cristina Santos; Luísa Semedo; Maria Sucena; Catarina Guimarães

doi:10.20344/amp.18497

Autores

Bebiana Conde Centro Hospitalar Trás-os-Montes e Alto Douro. Vila Real. Universidade de Trás-os-Montes e Alto Douro. Vila Real.
Filipa Costa Serviço de Pneumologia. Centro Hospitalar e Universitário de Coimbra. Coimbra.
Joana Gomes Serviço de Pneumologia. Centro Hospitalar e Universitário do Porto. Porto.
António Paulo Lopes Serviço de Pneumologia. Centro Hospitalar e Universitário de Coimbra. Coimbra.
Maria Alexandra Mineiro Serviço de Pneumologia. Centro Hospitalar Universitário Lisboa Central. Lisboa.
Orlando Rodrigues Serviço de Genética Médica. Hospital Pediátrico do Centro Hospitalar e Universitário de Coimbra. Coimbra.
Cristina Santos Serviço de Pneumologia. Centro Hospitalar e Universitário Lisboa Norte. Lisboa.
Luísa Semedo Serviço de Pneumologia. Centro Hospitalar Universitário Lisboa Central. Lisboa.
Maria Sucena Serviço de Pneumologia. Centro Hospitalar e Universitário do Porto. Porto.
Catarina Guimarães Serviço de Pneumologia. Hospital Senhora da Oliveira. Guimarães. https://orcid.org/0000-0001-9575-7898

DOI:

https://doi.org/10.20344/amp.18497

Palavras-chave:

alfa 1-Antitripsina, Deficiência de alfa 1-Antitripsina

Resumo

A deficiência de alfa 1-antitripsina é uma doença hereditária autossómica codominante que aumenta a predisposição para o desenvolvimento de doença pulmonar e/ou hepática. Esta doença, embora seja considerada rara, é um dos distúrbios genéticos mais comuns em todo o mundo. Contudo, atualmente ainda constitui uma doença subdiagnosticada. Várias organizações e sociedades, incluindo a Sociedade Portuguesa de Pneumologia, elaboraram recomendações e diretrizes para o diagnóstico e gestão da deficiência de alfa 1-antitripsina. Porém, estes documentos ainda não abordam alguns temas relevantes associados à gestão da deficiência de alfa 1-antitripsina, principalmente devido à falta de robustez na evidência científica, que continuam a representar um ponto de discussão entre a comunidade médica. Neste artigo é feita a revisão de publicações científicas relevantes acerca da deficiência de alfa 1-antitripsina, e são descritas as perspetivas de especialistas portugueses sobre a gestão da deficiência de alfa 1-antitripsina, nomeadamente ao nível do diagnóstico pré e neonatal, do impacto da pandemia COVID-19, da validação da terapêutica de aumento em doentes que receberam um transplante pulmonar e, por fim, estratégias alternativas para a melhoria do tratamento da deficiência de alfa 1-antitripsina de modo a promover a qualidade de vida dos doentes.

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