α1-Antitrypsin Deficiency

Abstract

α1-Antitrypsin deficiency is an autosomal codominant condition that predisposes to emphysema and cirrhosis. The condition is common but grossly under-recognized. Identifying patients' α1-antitrypsin deficiency has important management implications (ie, smoking cessation, genetic and occupational counseling, and specific treatment with the infusion of pooled human plasma α1-antitrypsin). The weight of evidence suggests that augmentation therapy slows the progression of emphysema in individuals with severe α1-antitrypsin deficiency.

Keywords: Augmentation therapy; Cirrhosis; Diagnostic testing; Emphysema; Targeted detection; α(1)-Antitrypsin deficiency.