1Division of Neurosurgery, Department of Surgery, University of Toronto, Ontario; and.
2Division of Neurosurgery, Krembil Neuroscience Centre, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.
J Neurosurg Spine. 2022 Aug 19;37(6):783-793. doi: 10.3171/2022.6.SPINE211011. Print 2022 Dec 1.
Since its initial description, the definition of Ehlers-Danlos syndrome (EDS) has notably changed. At present, it broadly refers to disorders of the connective tissue that are heritable and have similar features including joint hypermobility, dermal dysplasia, and vascular as well as internal organ fragility. There has been no comprehensive review of spinal manifestations of EDS in the recent literature. That has led to controversies in management protocols of this so-called orphan disease.
The authors used the latest version of the EDS classification from 2017, in which 13 subtypes were recognized. EDS has 19 different causal genes, mainly associated with collagen synthesis. Of these, 5 subtypes have associated spinal manifestations.
Some of the spinal pathologies associated with EDS include Chiari malformation, craniocervical instability, kyphoscoliosis, segmental instability and kyphosis, spontaneous CSF leaks, Tarlov cyst syndrome, tethered cord, and problems associated with wound healing. Here, the authors briefly discuss the demographics, etiology, pathophysiology, clinical features, management strategies, and directions for further research for each of these manifestations.
EDS belongs to the group of orphan diseases, with the total patient population being below 200,000. Further research on spinal manifestations of EDS is the need of the hour to establish clinical practice guidelines and close the significant knowledge gaps that currently exist.
自最初描述以来，埃勒斯-当洛斯综合征（EDS）的定义发生了显著变化。目前，它广泛指的是遗传性结缔组织疾病，具有相似的特征，包括关节过度活动、皮肤发育不良、血管以及内部器官脆弱。最近的文献中没有对 EDS 的脊柱表现进行全面综述。这导致了这种所谓的孤儿病管理方案存在争议。
作者使用了 2017 年最新版的 EDS 分类，其中识别出 13 种亚型。EDS 有 19 个不同的致病基因，主要与胶原合成有关。其中，有 5 种亚型与脊柱表现相关。
一些与 EDS 相关的脊柱病变包括 Chiari 畸形、颅颈不稳、脊柱后凸侧凸、节段性不稳定和后凸、自发性 CSF 漏、Tarlov 囊肿综合征、脊髓栓系和与伤口愈合相关的问题。在这里，作者简要讨论了这些表现的人口统计学、病因、病理生理学、临床特征、管理策略以及进一步研究的方向。
EDS 属于孤儿病组，总患者人数低于 20 万。进一步研究 EDS 的脊柱表现是当务之急，以建立临床实践指南并缩小当前存在的重大知识差距。
