α1-Antitrypsin deficiency in a patient diagnosed with chronic obstructive pulmonary disease and emphysema

Abstract

Chronic obstructive pulmonary disease (copd) is a disease with a high prevalence and mortality worldwide and has many negative socio-economic consequences.1 researchers conclude that the relatively low prevalence of copd in chronic smokers is due to a genetic predisposition to tobacco smoke and other environmental risk factors.3.4 it is important to prevent people with a pathogenic allele from copd.5 The best-studied genetic risk factor is severe hereditary deficiency of α1-at. Although α1at deficiency affects a small percentage of the world's population, the disease is more severe in people with the pathological genotype. Therefore, early detection and early initiation of replacement therapy are important to prevent further structural changes and complications, prolong life, and improve quality of life. The gold 2020 guidelines for the diagnosis, treatment, and prevention of copd recommend to measure the level of α1-at for each person diagnosed with copd.2 we present a clinical case of α1-at deficiency in patient with copd.