Affiliation: 5841 South Maryland, MC 6076, Chicago, IL 60637, USA.
Alpha-1-antitrypsin (AAT) deficiency is a debilitating disease characterized by progressive parenchymal lung loss. Deficiency of AAT results in a protease-antiprotease imbalance with unregulated activity of neutrophil elastase (NE). This imbalance results in accelerated parenchymal lung damage and a subsequent decrease in pulmonary function. Repletion of AAT enzyme with augmentation therapy using human pooled AAT is the current standard for the treatment for AAT deficiency. While therapy with pooled AAT is the cornerstone of treatment in patients with AAT deficiency, patients should also benefit from proven treatments for other obstructive lung diseases like chronic obstructive pulmonary disease (COPD). Interventions such as smoking cessation, inhaled medications, pulmonary rehabilitation, supplemental oxygen therapy, vaccinations, avoidance of environmental exposures, and prophylactic antibiotics should be viewed as essential therapies in the management of AAT deficiency.