Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports

α1-抗胰蛋白酶缺乏型慢性阻塞性肺疾病和肺气肿患者的血管病理学:病例报告

阅读:4

Abstract

Alpha 1 Antitrypsin Deficiency (AATD) is a genetic condition that results from mutations in the SERPINA1 gene, which can lead to deficient or dysfunctional Alpha 1 Antitrypsin (AAT) protein production. AATD is linked to chronic obstructive pulmonary disease (COPD) and emphysema. In addition to pulmonary manifestations, AATD has also been associated with vascular pathology due to excessive protease activity, tissue degradation, and vessel stiffening. Early AATD diagnosis is crucial to prevent progressive lung damage and associated pathologies. Here, we present case reports of two patients with AATD from the Temple University Hospital Outpatient Clinic, who exhibited aneurysms of the aorta and splenic artery. AATD should be considered a genetic risk factor for aneurysms and vascular diseases, necessitating cardiovascular monitoring in affected individuals. This report emphasizes both the need for heightened awareness of AATD as a potential etiology of unexplained vascular aneurysms, as well as the need for screening for vascular pathology in patients with AATD-associated COPD and emphysema to facilitate early intervention and improve patient outcomes.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。