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Medical Genetics

Ehlers-Danlos syndrome

A group of heritable connective-tissue disorders with variable joint, skin and tissue fragility; hypermobile EDS and hypermobility spectrum disorder are usually clinical diagnoses, while vascular EDS is rare and can cause arterial, bowel or uterine rupture.

In a nutshell

EDS is a heterogeneous group of heritable connective-tissue disorders. hEDS/HSD are clinical diagnoses managed with active rehabilitation and symptom-based care; there is no confirmatory genetic test for hEDS. Suspect a rare subtype when there is marked skin fragility, arterial or aortic disease, bowel or uterine rupture, pneumothorax or a striking family history. Vascular EDS is an emergency-risk diagnosis: sudden severe chest, back or abdominal pain needs urgent assessment, and pregnancy needs early specialist planning.

Classic presentation

A person has generalised joint hypermobility with recurrent sprains or dislocations, chronic pain, easy bruising and stretchy or fragile skin. Assess the phenotype and family history rather than diagnosing EDS from Beighton score alone; refer unusual vascular, visceral, skin or skeletal features to genetics.

Key points

  • EDS has multiple subtypes with different risks; hypermobility alone is common and not diagnostic.
  • hEDS and HSD are diagnosed clinically; there is currently no confirmatory genetic test for hEDS.
  • Use the Beighton score to document generalised joint hypermobility, then assess the full phenotype and alternative diagnoses.
  • Refer marked skin fragility or atrophic scarring, arterial or aortic disease, bowel or uterine rupture, spontaneous pneumothorax or a relevant family history to clinical genetics.
  • Vascular EDS can cause sudden arterial, bowel or uterine rupture; acute chest, back or abdominal pain is an emergency.
  • Treat hEDS/HSD with progressive strengthening, proprioception, joint protection, pacing and symptom-based multidisciplinary care.
  • Plan pregnancy before conception in vascular EDS through maternal medicine, genetics and relevant cardiovascular or vascular teams.

First-line investigation

History, three-generation family history, examination and Beighton scoring, followed by phenotype-directed genetics referral or testing when a rare subtype is suspected.

Management

Recognise high-risk disease

  • Treat sudden severe chest, back or abdominal pain, collapse, neurological deficit, peritonism, unexplained bleeding or pneumothorax in known or suspected vascular EDS as an emergency and involve the appropriate vascular, surgical, cardiovascular and genetics teams early.1,5,3

Classify and start supportive care

  • Take the family history and examine joints, skin, scars, skeletal proportions, eyes and cardiovascular features; use Beighton scoring as part of assessment, not as a standalone diagnosis.7,3
  • Start physiotherapy-led strengthening, proprioception, joint control, pacing and joint-protection advice for hEDS/HSD, adding occupational therapy and pain support according to function.7,1

Refer unusual or vascular phenotypes

  • Refer vascular, classical or other rare-EDS features to clinical genetics; consider specialist rare-EDS services and phenotype-directed molecular testing such as COL3A1 when indicated.3,5,2
  • Use targeted cardiovascular or vascular assessment for aortic or arterial findings, relevant family history, confirmed rare subtype or acute symptoms; avoid indiscriminate imaging in uncomplicated hEDS/HSD.3,2

Plan procedures, pregnancy and family care

  • Document the diagnosis or diagnostic uncertainty before elective procedures, tell anaesthetic and procedural teams about tissue and joint fragility, and make an individualised bleeding, wound and airway plan.1,5
  • Discuss pregnancy before conception in vascular EDS and coordinate maternal medicine, genetics, obstetrics, anaesthesia and cardiovascular or vascular care; avoid a one-size-fits-all delivery plan.8,2
  • Offer genetic counselling and review pain, fatigue, sleep, mental health, orthostatic, gastrointestinal, bladder, pelvic-floor, work and access needs without assuming that every symptom is caused by EDS.1,7,2

Exam traps

  • A high Beighton score is not a diagnosis of EDS and a normal or limited score does not settle the diagnosis in every patient.
  • hEDS has no confirmatory genetic test; genetic testing is used when a defined subtype is suspected.
  • Do not routinely image the entire arterial tree in uncomplicated hEDS/HSD; investigate according to phenotype, genotype, symptoms and specialist advice.
  • Sudden severe chest, back or abdominal pain in known or suspected vascular EDS is not routine musculoskeletal pain.
  • Do not apply the same pregnancy or delivery plan to every EDS subtype; vascular EDS requires early maternal-medicine and genetics planning.
  • Do not attribute orthostatic, gastrointestinal, pelvic or fatigue symptoms automatically to EDS; assess and treat each problem clinically.

Illustrations

Facial skin hyperextensibility in Ehlers-Danlos syndromeA clinical demonstration of marked facial skin hyperextensibility in Ehlers-Danlos syndrome; the image is for recognising a possible skin feature and is not diagnostic of a subtype.Howard Potts, Wikimedia Commons · CC-BY-2.0

Key sources

  1. NHS, Ehlers-Danlos syndromes (NHS overview of EDS types, hEDS clinical diagnosis, vascular features, supportive treatment and inheritance)Updated 4 Oct 2022
  2. London North West University Healthcare NHS, EDS national diagnostic service (Specialist NHS service for suspected rare monogenic EDS, referral information and distinction from hEDS/HSD management)
  3. Newcastle Hospitals NHS, hypermobility clinical-genetics referral guidance (UK genetics referral features including skin fragility, aortic or arterial disease, pneumothorax, bowel perforation, uterine rupture and sudden early vascular death)Updated 8 Nov 2024
  4. NHS Tayside RefGuide, suspected Ehlers-Danlos syndrome (UK clinical-genetics referral advice distinguishing clinical hEDS/HSD from genetically characterised subtypes)
  5. East Genomics NHS, Ehlers-Danlos syndrome referrals (Current NHS genomics referral features for classical and vascular EDS, including arterial dissection, bowel or uterine rupture, pneumothorax and severe surgical bleeding)
  6. Oxford University Hospitals, genetic referrals for Ehlers-Danlos syndrome (UK genetics referral pathway with phenotype features for classical, vascular and other defined EDS types)
  7. NHS, joint hypermobility syndrome (NHS assessment with Beighton scoring and strengthening, pacing and joint-care advice)Updated 30 Aug 2023
  8. North Central London Maternal Medicine Network, service specification 2024 (UK maternal-medicine categorisation identifying vascular Ehlers-Danlos syndrome as care led by a maternal-medicine centre)

This page is exam revision material, not medical advice, and must not be used for patient care. Always check drug doses against the BNF and current guidance. Full disclaimer.