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Ehlers-Danlos syndrome

Last reviewed: 10 Nov 2024
Last updated: 19 Nov 2024

Summary

Definition

History and exam

Key diagnostic factors

  • family history of joint hypermobility, EDS, or genetic mutations
  • 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
  • semitransparent 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 anesthesia
Full details

Other diagnostic factors

  • muscle hypotonia
  • varicose veins
  • abdominal wall, inguinal, or paraumbilical hernia
  • uterine or rectal prolapse
  • orthostatic hypotension
  • orthostatic intolerance
  • postural orthostatic tachycardia syndrome
  • neurally mediated hypotension
  • marfanoid habitus
  • gastrointestinal manifestations
  • gynecologic manifestations
  • eye abnormalities
  • midsystolic click or late systolic murmur
Full details

Risk factors

  • family history of joint hypermobility or EDS
  • genetic mutations
Full details

Diagnostic tests

1st tests to order

  • clinical diagnosis
  • genetic testing
Full details

Tests to consider

  • complete blood count
  • clotting screen
  • tilt-table testing
  • x-ray spine
  • echocardiogram
  • gastrointestinal imaging and endoscopy
Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Shweta Dhar, MD, MS, FACMG, FACP

Professor

National Program Executive Director, Genomics

Veterans Affairs

Director, Adult Genetics Division

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 receives royalties from Elsevier for the Handbook of Adult Genetics & Genomics. SD is on the Board of Directors for the American College of Medical Genetics & Genomics (ACMG) and is course director for the ACMG 101 course for non-genetics providers.

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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