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ANZSVS Conference 2025
Alpha-1 Antitrypsin Deficiency: An Under-recognised Genetic Risk Factor in Peripheral Arterial Disease
Poster

Poster

Disciplines

Vascular

Presentation Description

Institution: The Wollongong Hospital - NSW, Australia

Purpose: Peripheral arterial disease (PAD) is typically associated with conventional atherosclerotic risk factors. However, in patients without these risk factors, genetic contributors must be considered. This scoping review highlights a novel link between alpha-1 antitrypsin deficiency (AATD) and PAD, suggesting AATD may play a pathophysiological role in arterial wall degeneration and atherosclerosis. Methodology: A scoping review with a case highlight of a patient with confirmed AATD who developed progressive aneurysmal disease of the dorsalis pedis and posterior tibial arteries, culminating in limb loss. The clinical course, imaging, and surgical interventions are reviewed. A literature review was conducted to examine the existing relationships between AATD and arterial disease. Results: Despite lacking traditional vascular risk factors, the patient developed extensive peripheral aneurysmal disease unresponsive to standard surgical approaches, including deep vein arterialisation. Previous reports have described AATD-associated aneurysmal changes in visceral arteries and increased aortic dilation. Alpha-1 antitrypsin plays a central role in modulating vascular inflammation and extracellular matrix stability. Its deficiency may therefore contribute to vascular wall weakening, predisposing patients to aneurysm formation and accelerated PAD. Conclusion: This review underscores the need to consider AATD as an independent risk factor for PAD, particularly in patients without typical atherosclerotic risk profiles. Early genetic recognition may influence screening strategies, surgical planning, and long-term vascular management. Further studies are needed to clarify the prevalence and mechanistic basis of PAD in AATD and to inform multidisciplinary care strategies for this unique patient population.
Speakers
Authors
Authors

Dr Calyb Austin - , Dr Yu Sun - , Dr Andrew Bullen -