van de Luijtgaarden Koen M, Rouwet Ellen V, Hoeks Sanne E, Stolker Robert J, Verhagen Hence Jm, Majoor-Krakauer Danielle
1 Department of Vascular Surgery, Erasmus University Medical Center, Rotterdam, the Netherlands.
2 Department of Anesthesiology, Erasmus University Medical Center, Rotterdam, the Netherlands.
Vasc Med. 2017 Apr;22(2):112-118. doi: 10.1177/1358863X16686409. Epub 2017 Mar 1.
Sex affects the presentation, treatment, and outcomes of abdominal aortic aneurysm (AAA). Although AAAs are less prevalent in women, at least in the general population, women with an AAA have a poorer prognosis in comparison to men. Sex differences in the genetic predisposition for aneurysm disease remain to be established. In this study we investigated the familial risk of AAA for women compared to men. All living AAA patients included in a 2004-2012 prospective database were invited to the multidisciplinary vascular/genetics outpatient clinic between 2009 and 2012 for assessment of family history using detailed questionnaires. AAA risk for male and female relatives was calculated separately and stratified by sex of the AAA patients. Families of 568 AAA patients were investigated and 22.5% of the patients had at least one affected relative. Female relatives had a 2.8-fold and male relatives had a 1.7-fold higher risk than the estimated sex-specific population risk. Relatives of female AAA patients had a higher aneurysm risk than relatives of male patients (9.0 vs 5.9%, p = 0.022), corresponding to 5.5- and 2.0-fold increases in aneurysm risk in the female and male relatives, respectively. The risk for aortic aneurysm in relatives of AAA patients is higher than expected from population risk. The excess risk is highest for the female relatives of AAA patients and for the relatives of female AAA patients. These findings endorse targeted AAA family screening for female and male relatives of all AAA patients.
性别会影响腹主动脉瘤（AAA）的表现、治疗及预后。尽管AAA在女性中相对少见，至少在普通人群中如此，但与男性相比，患有AAA的女性预后较差。动脉瘤疾病遗传易感性方面的性别差异仍有待确定。在本研究中，我们调查了女性与男性相比患AAA的家族风险。2004年至2012年前瞻性数据库中纳入的所有在世AAA患者，于2009年至2012年被邀请至多学科血管/遗传学门诊，通过详细问卷评估家族史。分别计算男性和女性亲属患AAA的风险，并按AAA患者的性别进行分层。对568例AAA患者的家族进行了调查，22.5%的患者至少有一名患病亲属。女性亲属的患病风险比估计的特定性别总体风险高2.8倍，男性亲属则高1.7倍。女性AAA患者的亲属比男性患者的亲属有更高的动脉瘤风险（9.0%对5.9%，p = 0.022），分别相当于女性和男性亲属的动脉瘤风险增加了5.5倍和2.0倍。AAA患者亲属患主动脉瘤的风险高于总体风险预期。AAA患者的女性亲属以及女性AAA患者的亲属的额外风险最高。这些发现支持对所有AAA患者的女性和男性亲属进行有针对性的AAA家族筛查。
