ALPHA-1 ANTITRYPSIN DEFICIENCY: IS IT SO RARE DISEASE

Abstract

Alpha-1 antitrypsin deficiency is one of the most common genetically-linked lethal diseases among Caucasians, affecting approximately 1 in every 1600-5000. Alpha-1 antitrypsin is a serine protease inhibitor (serpin). It protects lung tissue from destructive effect of proteases. A lack of alpha-1 antitrypsin leads to alveolar destruction and development of COPD and increased risk for chronic liver diseases. Affected individuals become invalid in a shorter time. For 1-3 proc. individuals with COPD, alpha-1 antitrypsin deficiency is determined. AAT deficiency is disorder which is transmitted in a autosomal recessive form. Mutant alleles (Z, S, Null) individual inherits from both parent and this can lead to severe alpha-1 antitrypsin deficiency. Alpha-1 antitrypsin deficiency is an underdiagnosed condition in patients with COPD. We accentuate the importance of early analysis of alpha-1 antitrypsin in patients with COPD to determine exact disease reason – alpha-1 antitrypsin deficiency, it’s prognosis, treatment and prevention.