Alpha1 antitrypsin deficiency (α1ATD) is a genetic disorder that affects 1 in 1500-3000 of European origin population. Mutation in SERPINA1 gene appears to be the main cause of α1ATD.This disorder increases the risk of Chronic Obstructive Pulmonary Disease (COPD) due to the proteolytic action of serine proteases on the alveolar cells andaccumulation of α1AT consequent immune response. In addition, the effects of immune response to the accumulated enzyme in the Endoplasmic reticulum (ER). Patients aged 20-50 years having α1ATD are at a high risk for developing COPD. This review focuses on the molecular pathophysiology of α1ATD and how it leads to COPD. It is concluded that factors accelerating α1AT release in the peripheral circulation lead to a better outcome.
Elzergani et al. (Sun,) studied this question.