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原发性护理提供者的可动性埃勒斯-当洛斯综合征。

Hypermobile Ehlers Danlos for the Primary Care Provider.

机构信息

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri.

出版信息

Mo Med. 2024 Jul-Aug;121(4):289-296.

Abstract

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.

摘要

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。

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Pain in the Ehlers-Danlos syndromes: Mechanisms, models, and challenges.埃勒斯-当洛综合征中的疼痛:机制、模型与挑战。
Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):429-445. doi: 10.1002/ajmg.c.31950. Epub 2021 Nov 19.

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