29-Jul-2026
The association of alpha-1 antitrypsin deficiency and arterial aneurysms
Xia & He Publishing Inc.
Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant disorder caused by SERPINA1 mutations, leading to reduced circulating AAT levels. The PIZZ genotype confers the most severe deficiency and highest risk for lung and liver disease. Emerging evidence suggests a potential association with arterial aneurysms, based on a protease-antiprotease imbalance and extracellular matrix degradation of elastin in vessel walls. Several studies have reported increased frequencies of AATD alleles in patients with abdominal aortic aneurysms and intracranial aneurysms, with some showing statistically significant associations. PIZZ patients also have larger aortic diameters and greater aortic stiffness. However, evidence is inconsistent, as large studies have failed to demonstrate significant associations. Overall, current evidence suggests an association, but AATD alone is not sufficient to increase the risk of new-onset arterial aneurysms.
- Journal
- Journal of Clinical and Translational Hepatology