SERPINA1 mutations can affect AAT serum levels and/or function, with some producing conformational changes that result in AAT polymerization and intracellular retention, disrupting the protease/antiprotease imbalance in the lungs, with damaging effects on lung parenchyma that can lead to emphysema development [2, 3, 11]. Here, SERPINA1 is linked to pulmonary emphysema.