Placing joint hypermobility in context: traits, disorders and syndromes.

IF 6.7 2区医学 Q1 Medicine

British medical bulletin Pub Date : 2023-09-12 DOI:10.1093/bmb/ldad013

Silvia Morlino, Marco Castori

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引用次数: 0

Abstract

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.

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将关节过度活动置于背景中：特征、障碍和综合征。

背景：关节活动过度（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）疼痛联合发生，在更复杂的表型之外或之内。当无法确定替代诊断时，JHM和相关MSK疼痛的患者会被诊断为高移动性谱系障碍（HSD）。相反，埃勒斯-丹洛斯综合征（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。超移动EDS（HEDS）是唯一一种仍缺乏验证性测试的EDS变体。数据来源：查阅文献，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。一致的领域：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“光谱”的病态性质。争议领域：我们讨论了目前关于“频谱”、HSD和HEDS的局限性和分歧。增长点：在临床背景下，与JHM相关的疼痛病理生理学的阐明应该与JHM综合征的多效性表现的分析同时进行。及时开展研究的领域：分类、疾病学、，讨论了JHM、EDS和相关疾病的诊断和治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

British medical bulletin 医学-医学：内科

CiteScore

13.10

自引率

1.50%

发文量

审稿时长

>12 weeks

期刊介绍： British Medical Bulletin is a multidisciplinary publication, which comprises high quality reviews aimed at generalist physicians, junior doctors, and medical students in both developed and developing countries. Its key aims are to provide interpretations of growing points in medicine by trusted experts in the field, and to assist practitioners in incorporating not just evidence but new conceptual ways of thinking into their practice.