Ehlers-Danlos syndrome

Last reviewed: 23 Apr 2022
Last updated: 02 Jun 2021

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • joint hypermobility
  • joint or spine pain
  • motor delay in infancy
  • chronic pain syndrome
  • fatigue
  • recurrent joint dislocation or subluxation
  • muscle pain and/or muscle spasm
  • soft, silky skin texture
  • semi-transparent skin
  • thin and stretchy double fold of skin
  • atrophic scars
  • easy bruising
  • stretch marks
  • poor wound healing and/or wound dehiscence
  • significant injury
  • history of delayed onset of local anaesthesia
More key diagnostic factors

Other diagnostic factors

  • muscle hypotonia
  • varicose veins
  • abdominal wall, inguinal, or para-umbilical hernia
  • uterine or rectal prolapse
  • orthostatic hypotension (OH)
  • orthostatic intolerance
  • postural orthostatic tachycardia syndrome (POTS)
  • neurally mediated hypotension (NMH)
  • marfanoid habitus
  • gastrointestinal (GI) manifestations
  • gynaecological manifestations
  • eye abnormalities
  • mid-systolic click or late systolic murmur
Other diagnostic factors

Risk factors

  • family history of joint hypermobility or EDS
  • genetic mutations
More risk factors

Diagnostic investigations

1st investigations to order

  • clinical diagnosis
  • genetic testing
More 1st investigations to order

Investigations to consider

  • full blood count
  • clotting screen
  • tilt-table testing
  • x-ray spine
  • echocardiogram
  • gastrointestinal (GI) imaging and endoscopy
More investigations to consider

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Shweta Dhar, MD, MS, FACMG

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

Disclosures

SD is on the board of directors of the American College of Medical Genetics and Genomics and is a member of the Ehlers-Danlos Society International Consortium. She has previously consulted for Acer Therapeutics and has previously held shares in PanGenomics, India.

Acknowledgements

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.

Peer reviewers

Howard P. Levy, MD, PhD

Assistant Professor

Division of General Internal Medicine

Department of Medicine

McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University

Baltimore

MD

Disclosures

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

Bert Callewaert, MD

Research Assistant

Fund for Scientific Research

Flanders Centre for Medical Genetics

Ghent University Hospital

Ghent

Belgium

Disclosures

BC declares that he has no competing interests.

Howard Bird, MA, MD, FRCP

Professor of Pharmacological Rheumatology

University of Leeds

Chapel Allerton Hospital

Leeds

UK

Disclosures

HB declares that he has no competing interests.

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