PDF(Pubmed)
Abstract：
BACKGROUND: The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders. EDS is clinically and genetically heterogeneous and usually involves multiple systems. There are 14 subtypes of EDS with hallmark features including joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical manifestations and their severity differ among the subtypes, encompassing recurrent joint dislocations, scoliosis, arterial aneurysm and dissection, and organ rupture. Challenges in diagnosis and management arise from the complexity of the disease, which is further complicated by its rarity. The development of clinical guidelines and implementation of coordinated multi-disciplinary team (MDT) approaches have emerged as global priorities.
METHODS: Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes was therefore established. Healthcare professionals were recruited from 25 top hospitals across China. The experts are specialized in 24 fields, including genetics, vascular surgery, dermatology, and orthopedics, as well as nursing care, rehabilitation, psychology, and nutrition. Based on GRADE methodology, the Guidelines were written by the Group supervised by methodologists, following a systemic review of all 4453 articles in PubMed published before August 9, 2023, using the search term \"Ehlers Danlos\". A coordinated MDT approach for the diagnosis and management of EDS is highly recommended by the Group, along with 29 specific recommendations addressing key clinical questions. In addition to the treatment plan, the Guidelines also emphasize integrating support from nursing care, rehabilitation, psychology, and nutrition. This integration not only facilitates recovery in hospital settings, but most importantly, the transition from an illness-defined life to a more \"normalized\" life.
CONCLUSIONS: The first guidelines on EDS will shorten the diagnostic odyssey and solve the unmet medical needs of the patients. This article is a synopsis of the full guidelines.
METHODS: Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes was therefore established. Healthcare professionals were recruited from 25 top hospitals across China. The experts are specialized in 24 fields, including genetics, vascular surgery, dermatology, and orthopedics, as well as nursing care, rehabilitation, psychology, and nutrition. Based on GRADE methodology, the Guidelines were written by the Group supervised by methodologists, following a systemic review of all 4453 articles in PubMed published before August 9, 2023, using the search term \"Ehlers Danlos\". A coordinated MDT approach for the diagnosis and management of EDS is highly recommended by the Group, along with 29 specific recommendations addressing key clinical questions. In addition to the treatment plan, the Guidelines also emphasize integrating support from nursing care, rehabilitation, psychology, and nutrition. This integration not only facilitates recovery in hospital settings, but most importantly, the transition from an illness-defined life to a more \"normalized\" life.
CONCLUSIONS: The first guidelines on EDS will shorten the diagnostic odyssey and solve the unmet medical needs of the patients. This article is a synopsis of the full guidelines.
摘要：
背景：Ehlers-Danlos综合征（EDS）是一组罕见的遗传性结缔组织疾病。EDS是临床和遗传异质性的，通常涉及多个系统。EDS有14种亚型，具有包括关节过度活动在内的标志性特征，皮肤过度伸展性，组织脆弱.不同亚型的临床表现及其严重程度不同，包括复发性关节脱位，脊柱侧弯,动脉瘤和夹层,器官破裂。诊断和管理的挑战来自疾病的复杂性，它的稀有性使其更加复杂。临床指南的制定和协调多学科团队（MDT）方法的实施已成为全球优先事项。
方法：因此成立了中国Ehlers-Danlos综合征多学科工作组。来自中国25家顶级医院的医疗保健专业人员。专家专攻24个领域,包括遗传学,血管手术,皮肤病学,和骨科,以及护理，康复,心理学,和营养。基于等级方法论，指南是由方法学家监督的小组编写的，在使用搜索词“EhlersDanlos”对2023年8月9日之前发表的所有4453篇PubMed文章进行了系统审查之后。集团强烈建议采用协调的MDT方法来诊断和管理EDS，以及解决关键临床问题的29项具体建议。除了治疗计划,该指南还强调综合护理支持，康复,心理学,和营养。这种集成不仅有助于医院环境中的恢复，但最重要的是,从疾病定义的生活过渡到更“正常化”的生活。
结论：关于EDS的第一个指南将缩短诊断过程，解决患者未满足的医疗需求。本文是完整指南的概要。
方法：因此成立了中国Ehlers-Danlos综合征多学科工作组。来自中国25家顶级医院的医疗保健专业人员。专家专攻24个领域,包括遗传学,血管手术,皮肤病学,和骨科,以及护理，康复,心理学,和营养。基于等级方法论，指南是由方法学家监督的小组编写的，在使用搜索词“EhlersDanlos”对2023年8月9日之前发表的所有4453篇PubMed文章进行了系统审查之后。集团强烈建议采用协调的MDT方法来诊断和管理EDS，以及解决关键临床问题的29项具体建议。除了治疗计划,该指南还强调综合护理支持，康复,心理学,和营养。这种集成不仅有助于医院环境中的恢复，但最重要的是,从疾病定义的生活过渡到更“正常化”的生活。
结论：关于EDS的第一个指南将缩短诊断过程，解决患者未满足的医疗需求。本文是完整指南的概要。
