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

Authors

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

Keywords:

alpha 1-Antitrypsin, alpha 1-Antitrypsin Deficiency

Abstract

Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining underdiagnosed. Several organizations and societies, including the Portuguese Society of Pulmonology have been elaborating guidelines and recommendations for the diagnosis and management of alpha 1-antitrypsin deficiency. Nevertheless, some important matters are yet to be included in those, mainly due to lack of robust scientific evidence, and continue to represent a point of discussion. This article reviews some important scientific publications and expresses the perspectives of a group of Portuguese experts regarding the management of alpha 1-antitrypsin deficiency, namely in terms of the pre and neonatal diagnosis, the impact of the COVID-19 pandemic, the validity of replacement therapy in lung transplant-receiving, and finally, alternative strategies of alpha 1-antitrypsin deficiency treatment to improve the patients’ quality of life.

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