Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, Poliambulatorio "Papa Giovanni Paolo II", 2nd Floor, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Foggia, Italy.
Curr Osteoporos Rep. 2018 Aug;16(4):333-343. doi: 10.1007/s11914-018-0460-x.
To summarize current evidence on the links between joint hypermobility (JH) and Ehlers-Danlos syndromes (EDS), with pain and reduced bone mass; to illustrate an updated approach to JH and EDS.
In 2017, a novel classification for EDS and JH has been published. Increasing data demonstrate that pain is a major disability determinator in JH and EDS. Recent findings confirm a complex pathogenesis for pain in JH and EDS and suggest a potential role for joint instability, central sensitization and small fiber neuropathy. Some papers present bone mass reduction as an associated feature of JH and EDS. The association is preliminary and reflects heterogeneous mechanisms. Assessment of patients with JH/EDS is now well-structured and based on an integrated approach of clinical evaluations and molecular testing. Pain and reduced bone mass are possibly common satellite manifestations of JH/EDS and need expert consult for appropriate interpretation and management.
总结关节过度活动(JH)与埃勒斯-当洛斯综合征(EDS)、疼痛和骨量减少之间关联的现有证据;举例说明对 JH 和 EDS 的最新处理方法。
2017 年,发表了一种 EDS 和 JH 的新分类。越来越多的数据表明疼痛是 JH 和 EDS 中导致残疾的主要因素。最近的研究结果证实了 JH 和 EDS 中疼痛的复杂发病机制,并提示关节不稳定、中枢敏化和小纤维神经病可能起作用。一些论文提出骨量减少是 JH 和 EDS 的一个相关特征。这种关联是初步的,反映了不同的机制。目前,对 JH/EDS 患者的评估已经有了很好的结构化,并基于临床评估和分子测试的综合方法。疼痛和骨量减少可能是 JH/EDS 的常见卫星表现,需要专家进行适当的解释和管理。