Abstract
The main aim of this review is to describe the role of alpha1-antitrypsin deficiency (AATD) in respiratory disease which accounts for over 50% of AATD associated deaths. Only about 10% of all patients with AATD are detected and the majority of cases go undetected or are asymptomatic. Cigarette smoking and other environmental exposures are important triggers for developing respiratory disease. This review examines the spectrum of respiratory manifestations of AATD, the epidemiology of AATD worldwide, the molecular pathophysiology underlying the respiratory component and the role of augmentation therapy in AATD related disease.
Keywords: Antitrypsin deficiency, respiratory disease, molecular pathology, therapy.
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