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Placing joint hypermobility in context: traits, disorders and syndromes
British Medical Bulletin ( IF 6.7 ) Pub Date : 2023-06-24 , DOI: 10.1093/bmb/ldad013
Silvia Morlino 1 , Marco Castori 1
Affiliation  

Background Joint hypermobility (JHM) is a common physical trait. It may occur alone or in combination with musculoskeletal (MSK) pain, outside or within more complex phenotypes. Hypermobility spectrum disorders (HSD) are diagnosed in individuals with JHM and related MSK pain, when an alternative diagnosis cannot be identified. Conversely, the Ehlers-Danlos syndrome (EDS) encompasses a group of rare hereditary connective tissue disorders featuring JHM along with other pleiotropic manifestations. The 2017 EDS Classification identifies 13 different subtypes. Hypermobile EDS (HEDS) is the only EDS variant still lacking a confirmatory test. Sources of data Literature was reviewed searching for the most relevant papers related to key arguments. Particular attention was focused on papers published after the 2017 Classification. Areas of agreement Definition, epidemiology, assessment tools and patterns of JHM are presented. The morbid nature of the 2017 EDS Classification and of the ‘spectrum’ is also illustrated. Areas of controversy We discuss current limitations and disagreements concerning the ‘spectrum’, HSD and HEDS. Growing points In the clinical context, elucidation of the pathophysiology of pain related to JHM should develop in parallel with the analysis of pleiotropic manifestations of syndromes with JHM. Areas timely for developing research Future challenges concerning classification, nosology, diagnosis and management of JHM, EDS and related disorders are discussed.

中文翻译:

将关节​​过度活动置于背景中:特征、疾病和综合征

背景 关节过度活动(JHM)是一种常见的身体特征。它可能单独发生,也可能与肌肉骨骼 (MSK) 疼痛一起发生,在更复杂的表型之外或之内。当无法确定替代诊断时,患有 JHM 和相关 MSK 疼痛的个体会被诊断为过度活动谱系障碍 (HSD)。相反,埃勒斯-当洛斯综合征 (EDS) 包括一组罕见的遗传性结缔组织疾病,其特征是 JHM 以及其他多效性表现。2017 年 EDS 分类确定了 13 种不同的亚型。超机动 EDS (HEDS) 是唯一仍缺乏验证性测试的 EDS 变体。数据来源 对文献进行了审查,寻找与关键论点相关的最相关论文。特别关注 2017 年分类后发表的论文。协议领域 介绍了 JHM 的定义、流行病学、评估工具和模式。2017 年 EDS 分类和“谱”的病态本质也得到了说明。争议领域 我们讨论当前有关“频谱”、HSD 和 HEDS 的限制和分歧。发展点 在临床背景下,对 JHM 相关疼痛病理生理学的阐明应与 JHM 综合征的多效性表现分析同时进行。及时开展研究的领域讨论了有关 JHM、EDS 和相关疾病的分类、疾病分类、诊断和管理的未来挑战。
更新日期:2023-06-24
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