Manuel Izquierdo1, Himanshu Rawal2, Michael Armstrong3, Chad R Marion4,5. 1. Department of Internal Medicine, Section On Pulmonary, Critical Care, Immunologic, and Asthma Medicine, Wake Forest Baptist Hospital, 1 Medical Center Blvd, Winston-Salem, NC, 27157, USA. mizquier@wakehealth.edu. 2. Department of Internal Medicine, Section On Pulmonary, Critical Care, Immunologic, and Asthma Medicine, Wake Forest Baptist Hospital, 1 Medical Center Blvd, Winston-Salem, NC, 27157, USA. 3. Department of Internal Medicine, Wake Forest Baptist Hospital, 1 Medical Center Blvd, Winston-Salem, NC, 27157, USA. 4. Department of Internal Medicine, Section On Pulmonary, Critical Care, Immunologic, and Asthma Medicine, Wake Forest Baptist Hospital, 1 Medical Center Blvd, Winston-Salem, NC, 27157, USA. Crmarion@wakehealth.edu. 5. Department On Internal Medicine, Section On Pulmonary, Critical Care and Sleep Medicine, W. G. (Bill) Hefner Veterans Affairs Medical Center, Salisbury, NC, USA. Crmarion@wakehealth.edu.
Abstract
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.
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.
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