Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri.
Mo Med. 2024 Jul-Aug;121(4):289-296.
Joint hypermobility is very common in the general population as is arthralgia. Increased awareness of hypermobility and hypermobile Ehlers Danlos Syndrome (hEDS) among patients and providers has led to a surge in demand for evaluation. Many patients with hypermobility meet clinical criteria for a diagnosis of hypermobile spectrum disorder (HSD) or hEDS, but monogenic connective tissue diseases (CTD) are rare. Genetic testing is not recommended for patients with HSD/hEDS unless another underlying CTD is suspected. Given the high prevalence of HSD/hEDS in the general population, primary care providers should be familiar with HSD/hEDS evaluation, management, and indication for referral to a CTD specialist.
关节过度活动在普通人群中非常常见，关节痛也是如此。由于患者和医务人员对过度活动和过度活动型埃勒斯-当洛斯综合征（hEDS）认识的提高，对评估的需求急剧增加。许多过度活动的患者符合过度活动谱障碍（HSD）或 hEDS 的临床诊断标准，但单基因结缔组织疾病（CTD）很少见。不建议对 HSD/hEDS 患者进行基因检测，除非怀疑存在另一种潜在的 CTD。鉴于 HSD/hEDS 在普通人群中的高患病率，初级保健提供者应熟悉 HSD/hEDS 的评估、管理和转诊给 CTD 专家的指征。
