最近审阅: 1 十一月 2020
最近更新: 13 四月 2018

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 关节过度活动
  • 关节或脊柱疼痛
  • 婴儿期运动发育滞后
  • 慢性疼痛综合征
  • 疲劳
  • 复发性关节脱位或半脱位
  • 肌肉疼痛和/或肌肉痉挛
  • 肤质柔软丝滑
  • 半透明的皮肤
  • 薄且易拉伸的皮肤褶皱
  • 萎缩性疤痕
  • 容易出现瘀伤
  • 萎缩纹
  • 伤口愈合不良和/或伤口裂开
  • 严重损伤
  • 局部麻醉延迟出现的病史

其他诊断因素

  • 肌张力降低
  • 静脉曲张
  • 腹壁疝,腹股沟或脐疝
  • 子宫或直肠脱垂
  • 体位性低血压 (OH)
  • 体位性不耐受
  • 体位直立性心动过速综合征(POTS)
  • 神经介导性低血压 (neurally mediated hypotension, NMH)
  • Marfan样体征
  • 胃肠道 (GI) 表现
  • 妇科表现
  • 眼部异常
  • 中收缩期卡塔音或者晚收缩期心脏收缩杂音
  • 体位性低血压

危险因素

  • 关节过度活动或 EDS 家族史
  • 基因突变

诊断性检查

首要检查

  • 临床诊断
  • 基因检测
更多 首要检查

需考虑的检查

  • 直立倾斜试验
  • 脊柱 X 光
  • 超声心动图
  • 胃肠道 (GI) 影像学和内窥镜检查
更多 需考虑的检查

治疗流程

进行中

撰稿人

Director, Adult Genetics

Department of Molecular & Human Genetics

Baylor College of Medicine

Chief, Section of Genetic Medicine

Michael E. Debakey Veterans Affairs Medical Center

Houston

TX

利益声明

SD declares that she has no competing interests.

Dr Shweta Dhar would like to gratefully acknowledge Dr Rodney Grahame and Dr Alan Hakim, the previous contributors to this monograph. RG and AH are authors of several references cited in this monograph.

同行评议者展开全部内容

Assistant Professor

Division of General Internal Medicine

Department of Medicine

McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University

Baltimore

MD

利益声明

HPL is an author of a number of references cited in this monograph.

Research Assistant

Fund for Scientific Research

Flanders Centre for Medical Genetics

Ghent University Hospital

Ghent

Belgium

利益声明

BC declares that he has no competing interests.

Professor of Pharmacological Rheumatology

University of Leeds

Chapel Allerton Hospital

Leeds

UK

利益声明

HB declares that he has no competing interests.

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