aDivision of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy bHypermobility Unit, The Hospital of St John and St Elizabeth, London, UK.
Curr Opin Pediatr. 2017 Dec;29(6):640-649. doi: 10.1097/MOP.0000000000000541.
Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults.
Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile EDS is the default diagnosis in many individuals and still lacks of any confirmatory test. There is also a continuous spectrum of phenotypes between asymptomatic, nonsyndromic joint hypermobility, and hypermobile EDS. In 2017, a new international classification of EDSs, joint hypermobility, and related disorders was published. EDSs are now classified in 13 different variants because of mutations in 19 genes. The gap between joint hypermobility and hypermobile EDS is filled by the descriptive diagnosis of 'hypermobility spectrum disorders'. Alongside the new criteria recommendations for the assessment and management of selected issues related to joint hypermobility such as fatigue and physical therapy have also been published by expert panels.
Asymptomatic, nonsyndromic joint hypermobility, hypermobility spectrum disorders and EDS (particularly, the hypermobile type) are the most common phenotypes in children and adults with joint hypermobility. Their prompt recognition is crucial to the appropriate application of evidence-based management and the reduction in burden of ill health.
关节过度活动是一种常见的、尽管在很大程度上被忽视的身体征象。关节过度活动通常无症状，但可能是具有全身表现的潜在遗传疾病的特征。本文对儿童和成人的关节过度活动及相关临床问题提出了全面的考虑方法。
埃勒斯-当洛斯综合征（EDS）是各种孟德尔结缔组织疾病的总称，这些疾病具有关节过度活动、皮肤过度伸展性和组织脆弱性。大多数情况下，高活动度 EDS 是默认诊断，并且仍然缺乏任何确认性测试。在无症状、非综合征性关节过度活动和高活动度 EDS 之间也存在着连续的表型谱。2017 年，发表了一种新的 EDS、关节过度活动和相关疾病的国际分类。由于 19 个基因的突变，EDS 现在分为 13 个不同的变体。“过度活动谱障碍”的描述性诊断填补了关节过度活动和高活动度 EDS 之间的空白。同时，专家组还发布了评估和管理与关节过度活动相关的选定问题（如疲劳和物理治疗）的新标准建议。
无症状、非综合征性关节过度活动、过度活动谱障碍和 EDS（特别是高活动度型）是儿童和成人中最常见的关节过度活动表型。及时识别这些表型对于应用循证管理和减轻健康不良负担至关重要。
