Centro Hospitalar Trás-os-Montes e Alto Douro. Vila Real; Universidade de Trás-os-Montes e Alto Douro. Vila Real. Portugal.
Serviço de Pneumologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
Acta Med Port. 2023 Jan 2;36(1):49-54. doi: 10.20344/amp.18497. Epub 2022 Jul 18.
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.
α1-抗胰蛋白酶缺乏症是一种常染色体显性遗传疾病，可使患者易患肺部和/或肝脏疾病。尽管它被认为是罕见的，但它是世界上最常见的遗传疾病之一，尽管仍未得到充分诊断。包括葡萄牙肺病学会在内的几个组织和学会一直在制定α1-抗胰蛋白酶缺乏症的诊断和管理指南和建议。然而，由于缺乏强有力的科学证据，其中一些重要事项仍有待纳入，并继续成为讨论的焦点。本文回顾了一些重要的科学出版物，并表达了一组葡萄牙专家对α1-抗胰蛋白酶缺乏症管理的观点，特别是在产前和新生儿诊断、COVID-19 大流行的影响、肺移植受体中替代疗法的有效性，以及最后，改善患者生活质量的α1-抗胰蛋白酶缺乏症治疗的替代策略。
