Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency
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,...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Ordem dos Médicos
2022-07-01
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| Series: | Acta Médica Portuguesa |
| Subjects: | |
| Online Access: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18497 |
| _version_ | 1811242410411294720 |
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| author | Bebiana Conde Filipa Costa Joana Gomes António Paulo Lopes Maria Alexandra Mineiro Orlando Rodrigues Cristina Santos Luísa Semedo Maria Sucena Catarina Guimarães |
| author_facet | Bebiana Conde Filipa Costa Joana Gomes António Paulo Lopes Maria Alexandra Mineiro Orlando Rodrigues Cristina Santos Luísa Semedo Maria Sucena Catarina Guimarães |
| author_sort | Bebiana Conde |
| collection | DOAJ |
| description |
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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| first_indexed | 2024-04-12T13:50:52Z |
| format | Article |
| id | doaj.art-1895730aa22c46bda94e815b96d0e5c8 |
| institution | Directory Open Access Journal |
| issn | 0870-399X 1646-0758 |
| language | English |
| last_indexed | 2024-04-12T13:50:52Z |
| publishDate | 2022-07-01 |
| publisher | Ordem dos Médicos |
| record_format | Article |
| series | Acta Médica Portuguesa |
| spelling | doaj.art-1895730aa22c46bda94e815b96d0e5c82022-12-22T03:30:32ZengOrdem dos MédicosActa Médica Portuguesa0870-399X1646-07582022-07-01351310.20344/amp.18497Expert Perspectives on the Management of Alpha 1-Antitrypsin DeficiencyBebiana Conde0Filipa Costa1Joana Gomes2António Paulo Lopes3Maria Alexandra Mineiro4Orlando Rodrigues5Cristina Santos6Luísa Semedo7Maria Sucena8Catarina Guimarães9Centro Hospitalar Trás-os-Montes e Alto Douro. Vila Real. Universidade de Trás-os-Montes e Alto Douro. Vila Real.Serviço de Pneumologia. Centro Hospitalar e Universitário de Coimbra. Coimbra.Serviço de Pneumologia. Centro Hospitalar e Universitário do Porto. Porto.Serviço de Pneumologia. Centro Hospitalar e Universitário de Coimbra. Coimbra.Serviço de Pneumologia. Centro Hospitalar Universitário Lisboa Central. Lisboa.Serviço de Genética Médica. Hospital Pediátrico do Centro Hospitalar e Universitário de Coimbra. Coimbra.Serviço de Pneumologia. Centro Hospitalar e Universitário Lisboa Norte. Lisboa.Serviço de Pneumologia. Centro Hospitalar Universitário Lisboa Central. Lisboa.Serviço de Pneumologia. Centro Hospitalar e Universitário do Porto. Porto.Serviço de Pneumologia. Hospital Senhora da Oliveira. Guimarães. 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. https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18497alpha 1-Antitrypsinalpha 1-Antitrypsin Deficiency |
| spellingShingle | Bebiana Conde Filipa Costa Joana Gomes António Paulo Lopes Maria Alexandra Mineiro Orlando Rodrigues Cristina Santos Luísa Semedo Maria Sucena Catarina Guimarães Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency Acta Médica Portuguesa alpha 1-Antitrypsin alpha 1-Antitrypsin Deficiency |
| title | Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency |
| title_full | Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency |
| title_fullStr | Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency |
| title_full_unstemmed | Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency |
| title_short | Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency |
| title_sort | expert perspectives on the management of alpha 1 antitrypsin deficiency |
| topic | alpha 1-Antitrypsin alpha 1-Antitrypsin Deficiency |
| url | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18497 |
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