Ruigrok Y M, Rinkel G J E, Algra A, Raaymakers T W M, Van Gijn J
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, 3500 GA Utrecht, The Netherlands.
Neurology. 2004 Mar 23;62(6):891-4. doi: 10.1212/01.wnl.0000115104.19787.8e.
Compared with sporadic aneurysms, familial aneurysms rupture at an earlier age and are more often located at the middle cerebral artery. Other characteristics of familial aneurysms may also differ from sporadic aneurysms. The authors compared the size of ruptured aneurysms and the number of aneurysms between patients with familial subarachnoid hemorrhage (SAH) and those with sporadic SAH.
The authors included all patients with familial SAH admitted to the University Medical Center Utrecht (UMCU) and their first-degree relatives with proven aneurysmal SAH, including admissions elsewhere. As reference group the authors used a consecutive series of patients with sporadic SAH admitted to the UMCU from December 1995 to March 1997. Criteria for sporadic SAH were absence of a positive family history and exclusion of aneurysms in first-degree relatives by means of MR angiography. The authors dichotomized sizes of aneurysms into small (</=10 mm) and large (>10 mm). Size and number of aneurysms between patients with familial SAH and sporadic SAH were compared with relative risks (RR) with corresponding 95% CI.
The authors found 58 patients with familial SAH (48 with information on aneurysm size) and 88 patients with sporadic SAH. Twenty of 48 patients with familial SAH (41%) had large aneurysms, versus 17 (19%) with sporadic SAH (RR 2.1, 95% CI 1.2 to 3.6). Fifteen of 58 patients with familial SAH (26%) had multiple aneurysms, versus 9 (10%) with sporadic SAH (RR 2.5, 95% CI 1.2 to 5.4).
Familial aneurysms are generally larger at time of rupture and more likely to be multiple than sporadic aneurysms. The development of large and multiple aneurysms may be related to genetic factors that determine defects of the arterial wall.
与散发性动脉瘤相比，家族性动脉瘤破裂年龄更早，且更常位于大脑中动脉。家族性动脉瘤的其他特征可能也与散发性动脉瘤不同。作者比较了家族性蛛网膜下腔出血（SAH）患者和散发性SAH患者破裂动脉瘤的大小及动脉瘤数量。
作者纳入了所有入住乌得勒支大学医学中心（UMCU）的家族性SAH患者及其经证实患有动脉瘤性SAH的一级亲属，包括在其他地方就诊的患者。作为参照组，作者使用了1995年12月至1997年3月期间连续入住UMCU的散发性SAH患者系列。散发性SAH的标准为无阳性家族史且通过磁共振血管造影排除一级亲属中的动脉瘤。作者将动脉瘤大小分为小（≤10mm）和大（>10mm）两类。比较家族性SAH患者和散发性SAH患者动脉瘤的大小和数量，并计算相对风险（RR）及相应的95%置信区间（CI）。
作者发现58例家族性SAH患者（48例有动脉瘤大小信息）和88例散发性SAH患者。48例家族性SAH患者中有20例（41%）有大动脉瘤，而散发性SAH患者中有17例（19%）有大动脉瘤（RR 2.1，95%CI 1.2至3.6）。58例家族性SAH患者中有15例（26%）有多发动脉瘤，而散发性SAH患者中有9例（10%）有多发动脉瘤（RR 2.5，95%CI 1.2至5.4）。
家族性动脉瘤破裂时通常比散发性动脉瘤更大，且更易多发。大的和多发的动脉瘤的发生可能与决定动脉壁缺陷的遗传因素有关。
