Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency is a genetic disorder caused by mutations in the SERPINA1 gene, leading to reduced levels or an abnormal form of the alpha-1 antitrypsin protein, which normally protects lung tissue from damage by the enzyme neutrophil elastase. The deficiency can lead to early-onset emphysema, particularly in people who smoke, and the abnormal protein can also accumulate inside liver cells and cause liver disease. Swedish physicians Carl-Bertil Laurell and Sten Eriksson first described the deficiency in 1963 after noticing its absence on a routine blood protein test.