Alpha-1 Asthma Overlap Syndrome: a Clinical Overview.

PURPOSE OF REVIEW: Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases that is associated with severe complications and yet remains underdiagnosed. The pulmonary symptoms of both AATD and asthma include cough, excessive sputum production, dyspnea, and wheezing. These symptoms overlap significantly leading to difficulty distinguishing between these two conditions and suspicion that there may be an overlap syndrome. We aim to discuss the pathophysiology, clinical manifestations, and treatment of both alpha-1 antitrypsin and asthma and how they may overlap.

RECENT FINDINGS: Recent literature suggests that there is an association between asthma and AATD. This association has been hypothesized to be secondary to an imbalance of elastase and anti-elastase leading to a pro-inflammatory state in patients with AATD. This review serves to overview the pathophysiology, clinical manifestations, and treatment of alpha-1 antitrypsin, asthma, and the increasingly recognized intersection of the two, AATD-asthma overlap syndrome.