Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Br Med Bull. 2023 Sep 12;147(1):90-107. doi: 10.1093/bmb/ldad013.
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.
Literature was reviewed searching for the most relevant papers related to key arguments. Particular attention was focused on papers published after the 2017 Classification.
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.
We discuss current limitations and disagreements concerning the 'spectrum', HSD and HEDS.
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.
Future challenges concerning classification, nosology, diagnosis and management of JHM, EDS and related disorders are discussed.
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，在更复杂的表型中或之外。当无法确定其他诊断时，会在具有 JHM 和相关 MSK 疼痛的个体中诊断出过度活动谱障碍（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。HEDS 是唯一仍然缺乏确认性测试的 EDS 变体。
文献综述，搜索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。
介绍了 JHM 的定义、流行病学、评估工具和模式。还说明了 2017 年 EDS 分类和“谱”的病态性质。
我们讨论了当前关于“谱”、HSD 和 HEDS 的限制和分歧。
在临床背景下，与 JHM 相关的疼痛的病理生理学的阐明应与具有 JHM 的综合征的多效性表现的分析同时进行。
讨论了关于 JHM、EDS 和相关疾病的分类、分类学、诊断和管理的未来挑战。
