A group of Portuguese experts on alpha-1 antitrypsin deficiency (AATD) recently shared recommendations on disease management issues such as prenatal diagnosis, strategies to improve patient quality of life, and the impact of the coronavirus disease 2019 (COVID-19) pandemic.

Their perspectives, which followed an extensive literature review, were summarized in Acta Médica Portuguesa.

The panel advised against universal prenatal or neonatal screening, taking into account that the detection of AATD implies a predisposition to the disease rather than an actual diagnosis. On the other hand, the authors recommend screening in patients with a family history of severe AATD, as early detection allows families to take preventive measures such as smoking cessation and vaccination compliance.

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Although AATD has been suggested to be a potential risk factor for severe COVID-19, the group of experts disagreed with the trend, disclosing that the majority of their patients had not suffered from severe COVID-19.

Read more about AATD guidelines

Augmentation therapy for transplant recipients has been a controversial issue due to a lack of high-quality evidence on the topic. While some studies suggest that replacement therapy is associated with lower survival after lung transplantation, other authors believe that alpha-1 antitrypsin (AAT) protein cessation could lead to a proinflammatory state and a poorer outcome. The experts recommended continued use of AAT during the peritransplant period to prevent inflammatory complications.

Despite the fact that augmentation therapy is currently the standard of care for AATD, it requires a great amount of time for preparation and perfusion, which represents a burden to the healthcare system. Multiple hospital visits to receive treatment expose patients to infection, cause them to lose productivity, and limit their ability to travel. The panel recommends alternatives such as biweekly dosing strategies, self-administration, and home therapy to improve patient lifestyle and decrease healthcare burden. 

“The advisory board meeting organized for this group of experts to discuss recent scientific evidence and concerns raised by the Portuguese association of AATD patients resulted in a compilation of important suggestions for the improvement of diagnosis and management of AATD,” the authors concluded.


Conde B, Costa F, Gomes J, et al. Expert perspectives on the management of alpha 1-antitrypsin deficiency. Acta Med Port. Published July 18, 2022. doi:10.20344/amp.18497