ALPHA-1 ANTITRYPSIN PHENOTYPES DURING CHRONIC OBSTRUCTIVE PULMONARY DISEASE

Abstract

Variability in the susceptibility to develop chronic obstructive pulmonary disease (COPD) is related to both genetic and environmental factors. Smoking is one of the main evidenced risk factor for COPD, but alpha-1 antitrypsin (AAT) deficiency remains proven genetic risk factor for COPD. Alpha-1 antitrypsin deficiency is one of the most common genetically-linked lethal diseases among Caucasians, affecting approximately 1 in every 1600-3000. Alpha-1 antitrypsin is a serine protease inhibitor (serpin). It protects lung tissue from destructive exogenous and endogenous factors. A lack of alpha-1 antitrypsin leads to alveolar destruction and development of COPD or pulmonary emphysema. Affected individuals become invalid in a shorter time. For 1-3 % individuals with COPD, alpha-1 antitrypsin deficiency is determined. AAT deficiency is disorder which is transmitted in a co-dominant, autosomal form. Mutant alleles (Z, S, Null) individual inherits from both parent and this can lead to severe Alpha-1 antitrypsin deficiency. AAT 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.