Department of Neurology, Indiana University, Indianapolis, Indiana 46202, USA.
J Neurosurg. 2012 Jul;117(1):60-4. doi: 10.3171/2012.4.JNS111822. Epub 2012 Apr 27.
Familial predisposition is a recognized nonmodifiable risk factor for the formation and rupture of intracranial aneurysms (IAs). However, data regarding the characteristics of familial IAs are limited. The authors sought to describe familial IAs more fully, and to compare their characteristics with a large cohort of nonfamilial IAs.
The Familial Intracranial Aneurysm (FIA) study is a multicenter international study with the goal of identifying genetic and other risk factors for formation and rupture of IAs in a highly enriched population. The authors compared the FIA study cohort with the International Study of Unruptured Intracranial Aneurysms (ISUIA) cohort with regard to patient demographic data, IA location, and IA multiplicity. To improve comparability, all patients in the ISUIA who had a family history of IAs or subarachnoid hemorrhage were excluded, as well as all patients in both cohorts who had a ruptured IA prior to study entry.
Of 983 patients enrolled in the FIA study with definite or probable IAs, 511 met the inclusion criteria for this analysis. Of the 4059 patients in the ISUIA study, 983 had a previous IA rupture and 657 of the remainder had a positive family history, leaving 2419 individuals in the analysis. Multiplicity was more common in the FIA patients (35.6% vs 27.9%, p<0.001). The FIA patients had a higher proportion of IAs located in the middle cerebral artery (28.6% vs 24.9%), whereas ISUIA patients had a higher proportion of posterior communicating artery IAs (13.7% vs 8.2%, p=0.016).
Heritable structural vulnerability may account for differences in IA multiplicity and location. Important investigations into the underlying genetic mechanisms of IA formation are ongoing.
家族易感性是颅内动脉瘤(IA)形成和破裂的公认不可改变的危险因素。然而,关于家族性 IA 的特征的数据有限。作者试图更全面地描述家族性 IA,并将其特征与大型非家族性 IA 队列进行比较。
家族性颅内动脉瘤(FIA)研究是一项多中心国际研究,旨在确定 IA 形成和破裂的遗传和其他危险因素,该研究人群具有高度富集的特征。作者比较了 FIA 研究队列与国际未破裂颅内动脉瘤研究(ISUIA)队列在患者人口统计学数据、IA 位置和 IA 多发性方面的差异。为了提高可比性,排除了 ISUIA 队列中所有有 IA 或蛛网膜下腔出血家族史的患者,以及 FIA 和 ISUIA 队列中所有在研究入组前有破裂性 IA 的患者。
在 983 名患有明确或可能的 IA 的 FIA 研究患者中,有 511 名符合本分析的纳入标准。在 ISUIA 研究的 4059 名患者中,有 983 名患者有先前的 IA 破裂史,其余患者中有 657 名有阳性家族史,因此在分析中留下了 2419 名患者。多发性在 FIA 患者中更为常见(35.6%比 27.9%,p<0.001)。FIA 患者中更多的 IA 位于大脑中动脉(28.6%比 24.9%),而 ISUIA 患者中更多的 IA 位于后交通动脉(13.7%比 8.2%,p=0.016)。
遗传性结构脆弱性可能导致 IA 多发性和位置的差异。目前正在对 IA 形成的潜在遗传机制进行重要研究。