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.
Department of Internal Medicine, Wake Forest Baptist Hospital, 1 Medical Center Blvd, Winston-Salem, NC, 27157, USA.
Curr Allergy Asthma Rep. 2022 Sep;22(9):101-111. doi: 10.1007/s11882-022-01036-z. Epub 2022 May 20.
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 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.
α-1 抗胰蛋白酶缺乏症（AATD）是最常见的遗传疾病之一，可导致严重并发症，但仍存在漏诊。AATD 和哮喘的肺部症状均包括咳嗽、过度咳痰、呼吸困难和喘息。这些症状有很大的重叠，导致难以区分这两种疾病，怀疑可能存在重叠综合征。我们旨在讨论α-1 抗胰蛋白酶和哮喘的病理生理学、临床表现和治疗方法，以及它们可能的重叠。
最近的文献表明，哮喘和 AATD 之间存在关联。这种关联的假设是继发于弹性蛋白酶和抗弹性蛋白酶之间的失衡，导致 AATD 患者处于促炎状态。本综述旨在概述α-1 抗胰蛋白酶、哮喘以及两者日益认识到的交叉点——AATD-哮喘重叠综合征的病理生理学、临床表现和治疗方法。
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