过度活动谱系障碍诊疗的研究进展  

Progress in Clinical Diagnosis and Management of Hypermobility Spectrum Disorders

作　　者：徐可欣 李国壮 吴志宏 系统解析脊柱侧凸及相关合并症(DISCO)国际多中心协作组 仉建国[1,2,4] 吴南 XU Kexin;LI Guozhuang;WU Zhihong;DISCO(Deciphering Disorders Involving Scoliosis&COmorbidities)Study Group;ZHANG Jianguo;WU Nan(Department of Orthopaedic Surgery,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Key Laboratory of Big Data for Spinal Deformities,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Medical Research Center,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;不详)

机构地区：[1]中国医学科学院北京协和医院骨科,北京100730 [2]中国医学科学院北京协和医院,骨骼畸形遗传学研究北京市重点实验室,中国医学科学院脊柱畸形大数据研究与应用重点实验室,北京100730 [3]中国医学科学院北京协和医院医学科学研究中心,北京100730 [4]中国医学科学院北京协和医院疑难重症及罕见病全国重点实验室,北京100730 [5]不详

出　　处：《罕见病研究》2023年第4期633-640,共8页Journal of Rare Diseases

基　　金：中央高水平医院临床科研业务费(2022⁃PUMCH⁃D⁃004,2022⁃PUMCH⁃C⁃033)。

摘　　要：关节过度活动(JH)是指关节的活动范围可以超出正常范围,可分为生理性和病理性。过度活动谱系障碍(HSDs)是与JH相关的一组病症,主要累及肌肉骨骼系统造成关节脱位和疼痛,但也可伴随疲劳、肠胃功能障碍、自主神经障碍等多系统受累表现。目前HSDs的分子基础未知,其诊断主要依赖专业且综合的首次及随访临床评估。需要与HSDs进行鉴别诊断的包括关节过度活动型Ehlers-Danlos综合征(hEDS)、无症状JH等。尽管无症状JH、HSDs和hEDS互不相同,但其形成了一个连续的谱系。由于对HSDs的认识度有限,导致一部分无症状JH的个体被过度诊断、过度治疗,同时一些HSDs患者被长时间误诊、漏诊,给患者及家庭带来不必要的心理和经济负担。由于HSDs引起的症状常累及多系统且临床异质性较大,由主管医生负责的多学科团队诊疗模式是首选的疾病管理模式。除传统临床治疗之外,康复、心理和营养科的支持可帮助患者更好地回归生活。此外,患者宣教和自我管理也具有重要意义。本文旨在综述HSDs的诊疗与研究进展,提高国内医生对HSDs的认识,为中国建立并完善HSDs的多学科团队诊疗体系贡献一份力量。Joint hypermobility(JH)refers to the ability of joints to move beyond the‘normal’limits,which can be either physiologic or pathologic.Hypermobility spectrum disorders(HSDs)are a group of joint hypermobility-related clinical conditions.HSDs primarily affects the musculoskeletal system,predisposing the joints to subluxations or dislocations,and chronic pain.HSDs,however,may also manifest with symptoms such as fatigue,gastrointestinal disorders,and autonomic nervous system dysfunction,indicating multisystemic in-volvement that may impact psychological well-being.Although HSDs is usually not life-threatening,it is associ-ated with poor quality of life.Currently,the molecular basis of HSDs remains unclear.The diagnosis of HSDs requires comprehensive medical evaluation and assessment.The main differential conditions/diagnoses include asymptomatic joint hypermobility,hypermobile Ehlers-Danlos syndrome(hEDS),and various musculoskeletal inflammatory or degenerative diseases.Asymptomatic joint hypermobility,HSDs,and hEDS are now viewed as a continuous spectrum.Due to limited awareness of the condition,individuals with asymptomatic joint hypermobil-ity may experience overdiagnosis and overtreatment,while patients with HSDs may encounter prolonged misdi-agnoses or underdiagnoses.Furthermore,individuals presenting with psychological symptoms may have all their somatic complaints erroneously attributed to psychological factors.These factors collectively impose unnecessary psychological and economic burdens on patients and their families.The multi-systemic and heterogeneous nature of HSDs necessitates a multi-disciplinary team(MDT)approach with a case manager in both the diagnosis and management processes.Additionally,patient education and self-management play pivotal roles in optimizing chronic disease management.This review aims to summarize the current state of diagnosis and management of HSDs and raise awareness of HSDs,providing a basis for the establishment and refinement of a multi-disciplina-ry diagnostic and manage

关 键 词：关节过度活动 过度活动谱系障碍 EHLERS-DANLOS综合征 多学科团队诊疗模式 

分 类 号：R684[医药卫生—骨科学]