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
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
Risk factors
- family history of joint hypermobility or EDS
- genetic mutations
Diagnostic investigations
1st investigations to order
- clinical diagnosis
- genetic testing
Investigations to consider
- full blood count
- clotting screen
- tilt-table testing
- x-ray spine
- echocardiogram
- gastrointestinal (GI) imaging and endoscopy
Treatment algorithm
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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