Abstract：
The most common conditions with symptomatic joint hypermobility are hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). Diagnosing these overlapping connective tissue disorders remains challenging due to the lack of established causes and reliable diagnostic tests. hEDS is diagnosed applying the 2017 diagnostic criteria, and patients with symptomatic joint hypermobility but not fulfilling these criteria are labeled as HSD, which is not officially recognized by all healthcare systems. The 2017 criteria were introduced to improve diagnostic specificity but have faced criticism for being too stringent and failing to adequately capture the multisystemic involvement of hEDS. Herein, we retrospectively evaluated 327 patients from 213 families with a prior diagnosis of hypermobility type EDS or joint hypermobility syndrome based on Villefranche and Brighton criteria, to assess the effectiveness of the 2017 criteria in distinguishing between hEDS and HSD and document the frequencies of extra-articular manifestations. Based on our findings, we propose that the 2017 criteria should be made less stringent to include a greater number of patients who are currently encompassed within the HSD category. This will lead to improved diagnostic accuracy and enhanced patient care by properly capturing the diverse range of symptoms and manifestations present within the hEDS/HSD spectrum.
摘要：
有症状的关节过度活动的最常见病症是高移动Ehlers-Danlos综合征（hEDS）和高移动频谱障碍（HSD）。由于缺乏确定的原因和可靠的诊断测试，诊断这些重叠的结缔组织疾病仍然具有挑战性。HEDS是应用2017年诊断标准诊断的，有症状的关节过度活动但不符合这些标准的患者被标记为HSD，并非所有医疗保健系统都正式认可。引入2017年标准是为了提高诊断特异性，但由于过于严格且未能充分捕获hEDS的多系统参与而面临批评。在这里，我们根据Villefranche和Brighton标准，回顾性评估了来自213个家庭的327例患者，这些患者先前诊断为过度活动型EDS或关节过度活动综合征，评估2017年标准在区分hEDS和HSD方面的有效性，并记录关节外表现的频率。根据我们的发现,我们建议2017年的标准应不那么严格,以包括更多目前纳入HSD类别的患者.这将通过适当地捕获hEDS/HSD光谱内存在的不同范围的症状和表现而导致提高的诊断准确性和增强的患者护理。
