Respiratory Medicine Unit, ASST-Spedali Civili di Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Department of General and Vascular Surgery, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy.
Ann Vasc Surg. 2021 Nov;77:195-201. doi: 10.1016/j.avsg.2021.05.064. Epub 2021 Aug 26.
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.
We performed genotyping of 138 patients hospitalized in the Vascular Surgery Division of the ASST-Spedali Civili di Brescia, Italy, for nontraumatic rupture of AAA. The second purpose was to observe the distribution of main nongenetic risk factors for AAA between patients with and without AATD.
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).
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.
α-1-抗胰蛋白酶（AAT）是主要的血浆蛋白酶抑制剂之一。在过去的十年中，人们假设α-1-抗胰蛋白酶缺乏症（AATD）与腹主动脉瘤（AAA）之间存在关联。AAA 的发病机制涉及多种因素，并且始终存在细胞外基质（ECM）的潜在结构缺陷。AATD 可能是 AAA 的合理危险因素，因为它与蛋白酶/抗蛋白酶失衡和血管壁 ECM 降解增强有关。
我们对意大利布雷西亚 ASST-Spedali Civili 血管外科分部因非创伤性 AAA 破裂住院的 138 名患者进行了基因分型。第二个目的是观察 AATD 患者和非 AATD 患者之间主要非遗传危险因素的分布。
在 138 名患者中，发现 22 名患者存在 AATD：16 名 MS、1 名 SS、3 名 MZ 和 2 名新的罕见 AAT 变体。与一般意大利人群相比，我们队列中缺乏 S 等位基因的频率明显更高（分别为 7.8%和 2.2%，P<0.01），而缺乏 Z 等位基因的频率相似（分别为 1.1%和 1.3%，P>0.05）。尽管我们在 AAA 患者中未发现 AATD 与非 AATD 之间在年龄、性别、高血压、糖尿病和吸烟习惯方面存在差异，但 AATD 患者的高脂血症明显较少（分别为 46.4%和 12.5%，P<0.05）。
在我们的 AAA 患者队列中，S 等位基因频率高于一般意大利人群。我们的结果支持 AATD 可能是 AAA 的危险因素的假设。
