[Alpha-1-antitrypsin deficiency - an update]

Abstract

Alpha-1-antitrypsin deficiency is a genetic risk factor for the development of chronic obstructive airway disease (COPD) and liver cirrhosis. The disease is widely underdiagnosed. The hallmarks of therapy are smoking cessation, prevention from environmental dust exposure and augmentation therapy. Findings from the recently published prospective, placebo-controlled and randomized RAPID trial proved effectiveness of AAT augmentation therapy for slowing progression of emphysema, measured by CT lung density. CT lung density may be more sensitive than forced exspiratory volume in one second (FEV₁) or monoxid diffusion capacity (DLCO). The data suggest that higher therapeutic serum AAT levels lead to lower decline in lung density.