Why the study?
Alpha 1 Antitrypsin Deficiency is associated with vascular pathology, but heightened awareness and screening for vascular aneurysms in affected individuals remain needed.
Alpha 1 Antitrypsin Deficiency should be considered a potential etiology for unexplained vascular aneurysms, warranting cardiovascular screening in affected patients.
Supports hypothesis of vascular risk in AATD; should not change practice pending prospective data.
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.
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Gordon et al. (2025) studied this question.
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