Dietrich P
Klinik für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes Homburg/Saar, Kirrberger Straße, 66421, Homburg/Saar, Deutschland.
Radiologe. 2020 Apr;60(4):329-333. doi: 10.1007/s00117-020-00663-9.
The prevalence of unruptured intracranial aneurysms is approximately 3-5%. Subarachnoid hemorrhage caused by rupture of an aneurysm often affects middle-aged people and harbors high morbidity and mortality. The increasing availability of noninvasive imaging techniques over time is accompanied by an increase in the incidental detection of aneurysms.
The etiology in aneurysm development is heterogeneous. Besides polygenic multifactorial diseases, often triggered by well-established vascular risk factors, monogenic diseases should also be considered. Advances in genetics has helped to identify genes that contribute to the risk of intracranial aneurysm development.
The genetic basis of intracranial aneurysms shows a broad heterogeneity and complexity. Currently, besides imaging there is no reliable diagnostic test to identify patients who are at higher risk for asymptomatic intracranial aneurysms.
未破裂颅内动脉瘤的患病率约为3% - 5%。动脉瘤破裂引起的蛛网膜下腔出血常影响中年人，且发病率和死亡率高。随着时间的推移，非侵入性成像技术的可用性不断提高，动脉瘤的偶然发现也随之增加。
动脉瘤形成的病因是异质性的。除了通常由既定血管危险因素引发的多基因多因素疾病外，单基因疾病也应予以考虑。遗传学的进展有助于识别导致颅内动脉瘤形成风险的基因。
颅内动脉瘤的遗传基础表现出广泛的异质性和复杂性。目前，除了影像学检查外，没有可靠的诊断测试来识别无症状颅内动脉瘤风险较高的患者。
