Normandie Université, Université Caen Normandie, Institut National de la Santé et de la Recherche Médicale U1237, Centre Hospitalier et Universitaire Caen, Caen, France.
Department of Neurology, University of Virginia Health System, Charlottesville.
JAMA Neurol. 2019 Feb 1;76(2):217-226. doi: 10.1001/jamaneurol.2018.2848.
Data on neurologic manifestations of fibromuscular dysplasia (FMD) are rare, and current knowledge remains limited.
To present a comprehensive review of the epidemiologic characteristics, management, and prognosis of the neurologic manifestations associated with cerebrovascular FMD (ie, involving cervical or intracranial arteries) and to guide future research priorities.
References were identified through searches of PubMed from inception to December 2017 using both the medical subject headings and text words. Additional sources were also identified by reviewing reference lists of relevant articles and through searches of the authors' personal files. Selected articles described at least 1 clinical or radiologic feature and/or outcome of cerebrovascular FMD. Isolated case reports could be included if they described interesting or noteworthy manifestations of FMD.
A total of 84 relevant references were identified. Diagnosis of cerebrovascular FMD is based on the appearance of alternating arterial dilatation and constriction ("string of beads") or of focal narrowing, with no sign of atherosclerotic or inflammatory lesions. Although the diagnosis is easily apparent on results of radiographic imaging, making a diagnosis can be challenging in children or individuals with atypical phenotypes, such as purely intracranial FMD and arterial diaphragm. Involvement of multiple arteries is common, and there is increased incidence of cervical artery dissection and intracranial aneurysms. A variant in the PHACTR1 gene has been associated with FMD as well as cervical artery dissection and migraine, although less than 5% of cases of FMD are familial. Headaches, mainly of the migraine type, are observed in up to 70% of patients with FMD. Cerebrovascular FMD is mostly asymptomatic, but the most frequent neurologic manifestations include transient ischemic attack and ischemic stroke, notably in the presence of associated cervical artery dissection. Other conditions associated with FMD include subarachnoid hemorrhage and, rarely, intracranial hemorrhage. Management relies on observational data and expert opinion. Antiplatelet therapy is considered reasonable to prevent thromboembolic complications. Endovascular therapy is typically restricted to cases with symptomatic stenosis despite optimal medical therapy or in those with rupture of an intracranial aneurysm.
Longitudinal cohort studies of individuals of multiple ethnicities with biosampling are needed to better understand the risk factors, pathophysiological features, and outcomes of FMD. Patient advocacy groups could assist researchers in answering patient-centered questions regarding FMD.
纤维肌发育不良（FMD）的神经系统表现数据很少，目前的知识仍然有限。
全面回顾与脑血管 FMD（即涉及颈内或颅内动脉）相关的神经系统表现的流行病学特征、处理方法和预后，并指导未来的研究重点。
通过使用医学主题词和文本词从 PubMed 中检索，从成立到 2017 年 12 月检索到参考文献。还通过审查相关文章的参考文献列表和作者个人文件的搜索来确定其他来源。选择的文章至少描述了 1 个临床或影像学特征和/或脑血管 FMD 的结果。如果描述了 FMD 的有趣或值得注意的表现，则可以包括孤立的病例报告。
共确定了 84 篇相关参考文献。脑血管 FMD 的诊断基于交替出现的动脉扩张和收缩（“串珠”）或局灶性狭窄的表现，没有动脉粥样硬化或炎症病变的迹象。尽管在放射影像学检查结果中很容易看出诊断，但在儿童或表现不典型的个体（如单纯颅内 FMD 和动脉隔膜）中，做出诊断可能具有挑战性。多动脉受累很常见，并且颈内动脉夹层和颅内动脉瘤的发生率增加。PHACTR1 基因的变异与 FMD 以及颈内动脉夹层和偏头痛有关，尽管不到 5%的 FMD 是家族性的。高达 70%的 FMD 患者出现头痛，主要是偏头痛类型。脑血管 FMD 大多无症状，但最常见的神经系统表现包括短暂性脑缺血发作和缺血性中风，尤其是在伴有颈内动脉夹层的情况下。与 FMD 相关的其他疾病包括蛛网膜下腔出血，很少见的颅内出血。治疗依赖于观察性数据和专家意见。抗血小板治疗被认为可以合理预防血栓栓塞并发症。血管内治疗通常仅限于尽管进行了最佳药物治疗仍有症状性狭窄或颅内动脉瘤破裂的病例。
需要对来自多个种族的个体进行纵向队列研究，并进行生物样本采集，以更好地了解 FMD 的危险因素、病理生理特征和结果。患者权益组织可以协助研究人员回答关于 FMD 的以患者为中心的问题。
