Scheper Mark C, de Vries Janneke E, Verbunt Jeanine, Engelbert Raoul Hh
School of Physiotherapy, Amsterdam University of Applied Sciences, Amsterdam, the Netherlands ; Department of Rehabilitation, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
School of Physiotherapy, Amsterdam University of Applied Sciences, Amsterdam, the Netherlands ; Department of Rehabilitation, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands ; Department of Rehabilitation Medicine, CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht, the Netherlands.
J Pain Res. 2015 Aug 20;8:591-601. doi: 10.2147/JPR.S64251. eCollection 2015.
Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers-Danlos syndrome. However, within the Ehlers-Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers-Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).
全身关节活动过度(GJH)在被诊断患有慢性疼痛的患者中极为普遍。当GJH在≥3个月的时间内伴有≥4个关节疼痛且不存在其他导致慢性疼痛的病症时,可能会被诊断为活动过度综合征(HMS)。此外,GJH也是结缔组织遗传性疾病中常见的临床体征,如马凡综合征、成骨不全症和埃勒斯-当洛综合征。然而,在埃勒斯-当洛谱系中,发现了一类具有与HMS相似临床特征但缺乏特定基因特征的患者亚类:埃勒斯-当洛综合征活动过度型(EDS-HT)。几十年来,研究人员和临床医生一直在努力应对HMS和EDS-HT表型中高度多样的临床表现(挑战1)以及对疼痛发生及其持续存在的病理机制缺乏了解(挑战2)。此外,在HMS/EDS-HT表型中,社会心理因素的患病率很高,这再次提出了一个需要解决的难题(挑战3)。尽管最近有科学进展,但临床护理和研究仍存在许多障碍。为了进一步深入了解HMS/EDS-HT的表型及其机制,应该对这些人群进行更清晰的描述。未来的研究和临床护理应该修订并就HMS/EDS-HT的诊断标准达成共识(解决方案1),通过对HMS/EDS-HT谱系内的亚型进行分类来考虑临床异质性(解决方案二),并创建一个临床核心集(解决方案3)。