Objectives: Alpha-1-Antitrypsin (AAT) is one of the major plasmatic protease inhibitors. In the last decade, an association between Alpha-1-Antitrypsin Deficiency (AATD) and Abdominal Aortic Aneurysms (AAA) has been hypothesized. Multiple factors may be involved in AAA's etiopathogenesis, and an underlying structural defect of the extracellular matrix (ECM) is always present. AATD could be a reasonable risk factor for AAA because it is related to protease/antiprotease imbalance and enhanced ECM degradation of the vessel wall. Methods: We performed genotyping of 138 patients hospitalized in the Vascular Surgery Division of the ASST-Spedali Civili di Brescia, Italy, for non-traumatic rupture of AAA. The second purpose was to observe the distribution of main non-genetic risk factors for AAA between patients with and without AATD. Results: Out of 138 patients, 22 were found with AATD: 16 MS, 1 SS, 3 MZ, and 2 with a new rare AAT variant. When compared to the general Italian population, our cohort's frequency of deficient S allele was significantly higher (7.8 vs 2.2% respectively, P<0.01), whereas the deficient Z allele was similar (1.1 vs 1.3% respectively, P>0.05). Although we found no differences in age, gender, hypertension, diabetes, and smoke habits between AAA patients with and without AATD, hyperlipidemia was significantly less frequent in patients with AATD (46.4 vs 12.5% respectively, P<0.05). Conclusions: In our AAA patients' cohort, the S allele frequency was higher than in the general Italian population. Our results support the hypothesis that AATD might be a risk factor for AAA.

Pini, L., Peroni, M., Zanotti, C., Pini, A., Bossoni, E., Giordani, J., et al. (2021). Investigating the link between Alpha-1 Antitrypsin Deficiency and Abdominal Aortic Aneurysms. ANNALS OF VASCULAR SURGERY, 77, 195-201 [10.1016/j.avsg.2021.05.064].

Investigating the link between Alpha-1 Antitrypsin Deficiency and Abdominal Aortic Aneurysms

Perger, Elisa;
2021

Abstract

Objectives: Alpha-1-Antitrypsin (AAT) is one of the major plasmatic protease inhibitors. In the last decade, an association between Alpha-1-Antitrypsin Deficiency (AATD) and Abdominal Aortic Aneurysms (AAA) has been hypothesized. Multiple factors may be involved in AAA's etiopathogenesis, and an underlying structural defect of the extracellular matrix (ECM) is always present. AATD could be a reasonable risk factor for AAA because it is related to protease/antiprotease imbalance and enhanced ECM degradation of the vessel wall. Methods: We performed genotyping of 138 patients hospitalized in the Vascular Surgery Division of the ASST-Spedali Civili di Brescia, Italy, for non-traumatic rupture of AAA. The second purpose was to observe the distribution of main non-genetic risk factors for AAA between patients with and without AATD. Results: Out of 138 patients, 22 were found with AATD: 16 MS, 1 SS, 3 MZ, and 2 with a new rare AAT variant. When compared to the general Italian population, our cohort's frequency of deficient S allele was significantly higher (7.8 vs 2.2% respectively, P<0.01), whereas the deficient Z allele was similar (1.1 vs 1.3% respectively, P>0.05). Although we found no differences in age, gender, hypertension, diabetes, and smoke habits between AAA patients with and without AATD, hyperlipidemia was significantly less frequent in patients with AATD (46.4 vs 12.5% respectively, P<0.05). Conclusions: In our AAA patients' cohort, the S allele frequency was higher than in the general Italian population. Our results support the hypothesis that AATD might be a risk factor for AAA.
Articolo in rivista - Articolo scientifico
Abdominal Aortic Aneurysm; Allelic Variants; Alpha-1 Antitrypsin Deficiency; Genotyping; Vascular Disease;
English
26-ago-2021
2021
77
195
201
none
Pini, L., Peroni, M., Zanotti, C., Pini, A., Bossoni, E., Giordani, J., et al. (2021). Investigating the link between Alpha-1 Antitrypsin Deficiency and Abdominal Aortic Aneurysms. ANNALS OF VASCULAR SURGERY, 77, 195-201 [10.1016/j.avsg.2021.05.064].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/328424
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