Affiliation: Department of Pulmonary and Critical Care Medicine,5841 South Maryland, MC 6076, Chicago, IL 60637, USA.
Alpha-1-antitrypsin (AAT) deficiency is a debilitating disease characterized by progressive parenchymal lung destruction. 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 focus of treatment for AAT deficiency. While augmentation is a cornerstone of therapy for individuals with AAT deficiency, practitioners must also maximize standard treatment for obstructive lung disease like chronic obstructive pulmonary disease (COPD) to provide improved quality of life in patients suffering from AAT deficiency. Interventions such as smoking cessation, inhaled medications, pulmonary rehabilitation, supplemental oxygen therapy, vaccinations, avoidance of environmental exposures, and prophylactic antibiotics are essential therapies for the management of AAT deficiency.