Faculty of Medicine, KU Leuven, Leuven, Belgium.
Department of Neurosurgery, University Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Experimental Neurosurgery and Neuroanatomy, KU Leuven, Leuven, Belgium; Leuven Brain Institute (LBI), KU Leuven, Leuven, Belgium.
World Neurosurg. 2021 Jul;151:235-248.e5. doi: 10.1016/j.wneu.2021.02.112. Epub 2021 Mar 5.
Subarachnoid hemorrhage secondary to rupture of an intracranial aneurysm (IA) is a devastating condition with high morbidity and mortality. Individuals with a positive family history of aneurysmal subarachnoid hemorrhage (aSAH) or IA can have an increased risk for aSAH or IA themselves. Screening is currently recommended in families with ≥2 affected first-degree relatives. We sought to assess the usefulness and cost-effectiveness of IA screening in individuals with a positive first-degree family history, relative to the number of family members affected.
We performed a systematic literature search using PubMed and Google Scholar and identified additional studies by reviewing reference lists. Only original studies and review papers were considered. We excluded genetic diseases associated with IA and studies with unclear data concerning the number of first-versus second-degree relatives affected.
This review included 37 articles. Individuals with ≥2 affected first-degree relatives had a greater prevalence of IA (average 13.1% vs. 3% in the general population). Similarly, we found a greater prevalence of IA in individuals with ≥1 affected first-degree relative (average 4.8%, up to 19% in individuals with additional risk factors). The risk of aSAH also was increased in both categories. Recent studies stressed the importance of serial screening over time and suggested that such screening can be cost-effective in persons with only one first-degree relative with IA or aSAH.
While current guidelines do not recommend screening individuals with ≥1 first-degree relative affected, we found strong arguments in favor of this approach.
颅内动脉瘤破裂导致的蛛网膜下腔出血（SAH）是一种死亡率和发病率都很高的破坏性疾病。有阳性家族史的个体，即有动脉瘤性蛛网膜下腔出血（aSAH）或颅内动脉瘤（IA）家族史的个体，本身就有更高的 aSAH 或 IA 风险。目前推荐对有≥2 个一级亲属受累的家族进行筛查。我们旨在评估阳性一级亲属家族史个体的 IA 筛查的有用性和成本效益，与受累家族成员的数量有关。
我们使用 PubMed 和 Google Scholar 进行了系统的文献检索，并通过查阅参考文献确定了其他研究。仅考虑原始研究和综述论文。我们排除了与 IA 相关的遗传疾病和关于一级与二级亲属受累人数的数据不明确的研究。
本综述纳入了 37 篇文章。有≥2 个一级亲属受累的个体 IA 的患病率更高（平均为 13.1%，而普通人群为 3%）。同样，我们发现有≥1 个一级亲属受累的个体 IA 的患病率也更高（平均为 4.8%，在有其他危险因素的个体中高达 19%）。这两类人群的 aSAH 风险也增加了。最近的研究强调了随着时间推移进行连续筛查的重要性，并表明在仅有一个 IA 或 aSAH 的一级亲属的个体中，这种筛查具有成本效益。
虽然目前的指南不建议对有≥1 个一级亲属受累的个体进行筛查，但我们发现了强烈支持这种方法的论据。
