Alpha-1 Antitrypsin Deficiency and Chronic Obstructive Pulmonary Disease: Between Overlaps, Phenotypes and Illnesses

Abstract

Alpha-1 antitrypsin deficiency (AATD) or alpha-1 antitrypsin proteinase inhibitor (α1-Pi) deficiency, is a genetic disorder leading to a higher risk of pulmonary, hepatic and other organrelated diseases. The spectrum of diseases associated with AATD is large and includes pulmonary conditions (COPD, asthma, asthma-COPD overlap syndrome, bronchiectasis, etc.) as well as extrapulmonary (liver diseases, systemic vasculitis, rheumatoid arthritis, panniculitis, multiple sclerosis, peripheral neuropathy). We present a review of AATD focusing on its connection to other conditions.