Buttar Barjinder S, Bernstein Mark
Internal Medicine, Zucker School of Medicine / Northwell Health Mather Hospital, Port Jefferson, USA.
Cureus. 2018 Oct 25;10(10):e3494. doi: 10.7759/cureus.3494.
Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder that is easily managed if diagnosed and treated at an early age. It is often missed, however, especially in patients with long histories of smoking and alcohol use. This is mainly due to a lack of awareness and proper screening of the disorder, especially in the primary care setting. Here, we will focus on a case report of a young male whose diagnosis and treatment of AATD was significantly delayed. His lung and liver complications had initially been attributed to his smoking and drinking history. This delay could have been avoided by increasing awareness of AATD and through the implementation of novel screening tests that can quickly rule out the disorder in patients presenting with lung and liver disease.
α-1抗胰蛋白酶缺乏症（AATD）是一种常见的遗传性疾病，如果在幼年时得到诊断和治疗，很容易控制。然而，它常常被漏诊，尤其是在有长期吸烟和饮酒史的患者中。这主要是由于对该疾病缺乏认识以及缺乏适当的筛查，特别是在初级保健环境中。在此，我们将重点介绍一例年轻男性AATD诊断和治疗显著延迟的病例报告。他的肺部和肝脏并发症最初被归因于他的吸烟和饮酒史。通过提高对AATD的认识以及实施能够快速排除患有肺部和肝脏疾病患者的新型筛查测试，这种延迟本可以避免。
