中国Ehlers-Danlos综合征诊疗指南  

Chinese Guidelines for Diagnosis and Treatment of the Ehlers⁃Danlos Syndromes

作　　者：中国Ehlers-Danlos综合征多学科诊疗协作组 仉建国 吴南 Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes;ZHANG Jianguo;WU Nan(不详;Department of Orthopaedic Surgery,Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Key Laboratory of Big Data for Spinal Deformities,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)

机构地区：[1]不详 [2]中国医学科学院北京协和医院骨科,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,疑难重症及罕见病全国重点实验室,北京100730

出　　处：《罕见病研究》2023年第4期554-588,共35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);中国医学科学院医学与健康科技创新工程(2021⁃I2M⁃1⁃051)。

摘　　要：Ehlers-Danlos综合征(EDS)是一组具有临床和遗传异质性的结缔组织疾病,通常累及全身多系统,属于罕见病的一种。EDS共14个亚型,所有亚型共同特征是关节过度活动、皮肤过度伸展和组织脆弱等,不同亚型的临床特征和严重程度各不相同,包括反复关节脱位、脊柱侧凸、动脉夹层、内脏器官破裂等。EDS患者的诊断、治疗、随访、管理等多方面均面临诸多挑战,多学科团队的协同诊疗指南及流程尚未建立,因此中国Ehlers-Danlos综合征多学科诊疗协作组联合国内相关专业人士,共同制定本指南,旨在提高EDS诊疗水平,为患者提供同质化医疗服务。The Ehlers-Danlos syndromes(EDS)are a group of rare hereditary connective tissue disor-ders.EDS is clinically and genetically heterogeneous and usually involves multiple systems.EDS has 14 sub-types,the common features of which include joint hypermobility,skin hyperextensibility,tissue fragility,and etc.The clinical manifestations and their severity differ between the subtypes,involving recurrent joint dislocations,scoliosis,arterial aneurysm and dissection,organ rupture,and others.The complexity of the disease poses challenges to the diagnosis and management of EDS,together with the rareness of the disease.The development of clinical guidelines and implementation of coordinated multi-disciplinary team(MDT)ap-proaches to the EDS is in priority in the world.Therefore,we formed the Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes in China.Based on GRADE methodology,the MDT group developed the Guidelines.The Group highly recommends a coordinated MDT approach to the diagnosis and management of EDS.The first drafted guidelines on EDS will facilitate the shortening of the diagnostic odyssey and meeting the unmet medical needs of the patients.

关 键 词：EHLERS-DANLOS综合征 EDS 多学科 诊疗 指南 

分 类 号：R593.2[医药卫生—内科学]