AUTHOR=Annunziata Anna , Fiorentino Giuseppe , Coppola Antonietta , Cauteruccio Rosa , Ferrentino Laura , Fiorentino Luigi , Calabrese Cecilia TITLE=Alpha-1 antitripsyn deficiency and augmentation therapy in pregnancy: two case reports JOURNAL=Frontiers in Medicine VOLUME=Volume 11 - 2024 YEAR=2024 URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1479877 DOI=10.3389/fmed.2024.1479877 ISSN=2296-858X ABSTRACT=

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced plasma levels of alpha-1 antitrypsin (AAT), often leading to pulmonary diseases primarily emphysema and/or chronic obstructive pulmonary disease (COPD), but also bronchiectasis, bronchial asthma, or other less common disorders. Early diagnosis enables AAT augmentation therapy, which has proven to be effective in slowing down functional decline and improving survival rates. This article presents two cases of pregnant women with rare allelic variants of AATD who received AAT augmentation therapy, exploring the limited evidence on its safety during pregnancy and the potential role of decreased serum AAT levels in pregnancy-related complications.