Ajax Harwood Clinic

Hypermobility: should I be tested?

Last reviewed 2026-09-23Content vc4efb5013264
Reference tool — not medical advice. Clinician judgement always required.

Hypermobile Ehlers-Danlos syndrome (hEDS)

Clinical diagnosis — no single test

Also called: hEDS, hypermobile EDS, hypermobility spectrum disorder, HSD, joint hypermobility syndrome, double-jointed, being double jointed

Patients raise hEDS after years of joint pain, frequent sprains or dislocations, or being told they are unusually flexible or double-jointed. The label increasingly reaches patients through social-media communities describing chronic pain, fatigue and dizziness alongside hypermobility, through a physiotherapist or ND noting flexible joints, or through a family member's diagnosis. The joint pain and instability are usually real; the challenge is that hEDS shares features with ordinary flexibility, with hypermobility spectrum disorder, and with other connective tissue diseases that do have a gene test.

Raises suspicion

  • • A Beighton score meeting the age- and sex-specific cutoff (6 or more in children and teens, 5 or more from puberty to age 50, 4 or more over 50), or a strong history of extreme flexibility if the score is one point short [1, 2]
  • • Systemic connective-tissue features alongside hypermobility: unusually soft or velvety skin, unexplained stretch marks, hernias, pelvic organ prolapse at a young age, dental crowding, or mitral valve prolapse
  • • Chronic widespread musculoskeletal pain for 3 months or more, or recurrent joint dislocations or instability without significant trauma
  • • A first-degree relative who independently meets hEDS criteria

Does not raise suspicion

  • • Being flexible or double-jointed with no pain, instability, or systemic features
  • • Mild joint hypermobility in a child, which is common and usually eases with growth
  • • Fatigue or brain fog on their own, without joint symptoms

Red flags

  • • Features suggesting vascular EDS: arterial or organ rupture, unexplained large bruises away from the joints, thin translucent skin with visible veins, or a family history of sudden death or arterial rupture; needs urgent genetics referral, since vascular EDS is life-threatening and does have a gene test
  • • Significant scoliosis or skeletal deformity, which points toward a different connective-tissue disorder

Who to test

  • Suspected hEDS based on joint hypermobility and systemic features2017 international hEDS diagnostic checklist (Beighton score plus systemic features, family history, and exclusion of other diagnoses; no TestSelect entry, since it is a clinical exam and history tool). There is no genetic test for hEDS [1].
  • Features suggesting another EDS subtype (vascular, classical, kyphoscoliotic, or similar), such as skin fragility or a family history of arterial ruptureGenetic testing IS indicated here and should be arranged through clinical genetics; unlike hEDS, these subtypes have known causative genes (no TestSelect entry, specialist-directed) [1].
  • Joint pain and hypermobility where an inflammatory or autoimmune cause is also being considered: Antinuclear antibody (ANA) (Situation-specific), Rheumatoid factor (RF) (Situation-specific)hEDS has no serologic marker of its own; these help exclude an autoimmune cause of the joint symptoms.

More likely instead

Counselling script

“If your Beighton score meets the cutoff for your age, and you have systemic features like soft skin or stretch marks plus chronic joint pain or instability, hEDS is a reasonable clinical diagnosis; there's no blood or genetic test to confirm it. If you have signs like thin, translucent skin, unexplained large bruises, or a family history of arterial rupture, we need to rule out vascular EDS first, and that does have a gene test. Otherwise, let's also make sure something else, like fibromyalgia or an inflammatory joint disease, isn't a better fit.”

Chart snippet (OSCAR-safe plain text)

Concern discussed, not tested

Concern re: hypermobile Ehlers-Danlos syndrome (hEDS) discussed, raised by patient or ND.
Discriminating features: Beighton score, systemic connective-tissue features, family history, vascular-EDS red flags; reviewed.
Assessment: clinical criteria for hEDS reviewed; no genetic test exists for hEDS.
Plan: 2017 international hEDS checklist applied; vascular-EDS features absent.
Ref: 2017 international classification of the Ehlers-Danlos syndromes; Ehlers-Danlos Society hEDS diagnostic checklist.
Patient given info page: https://hypermobility.ajaxharwoodclinic.com/patient
Revisit if: features of vascular EDS develop, or pain/instability significantly limits function.

Testing ordered

Concern re: hEDS discussed.
Discriminating features: Beighton score meeting cutoff, systemic features present, no vascular-EDS red flags.
Assessment: findings consistent with hEDS by 2017 clinical criteria.
Plan: ANA and rheumatoid factor ordered to help exclude an autoimmune cause of joint pain; no genetic testing indicated for hEDS itself.
Ref: 2017 international classification of the Ehlers-Danlos syndromes; Ehlers-Danlos Society hEDS diagnostic checklist.
Patient given info page: https://hypermobility.ajaxharwoodclinic.com/patient
Revisit if: features of vascular EDS develop, or symptoms progress despite conservative management.

Revisit if

  • • Features of vascular EDS develop (skin fragility, arterial or organ rupture, unexplained bruising)
  • • Pain or instability significantly limiting function despite conservative management
  • • New symptoms suggesting POTS or another connective-tissue disease

References

  1. 1. International EDS Consortium (Malfait et al.). The 2017 international classification of the Ehlers-Danlos syndromes (2017)— older guidelinehEDS is the only EDS subtype diagnosed clinically; every other subtype requires molecular/genetic confirmation
  2. 2. The Ehlers-Danlos Society. Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS) — diagnostic checklist (2017)— older guideline2017 diagnostic checklist requiring the simultaneous presence of the Beighton-score criterion, the systemic feature criterion, and the exclusion criterion
Evidence notes

Tag rationale: B, not borderline. hEDS remains the only Ehlers-Danlos subtype without an identified causative gene, so diagnosis is clinical, using the 2017 international criteria [1, 2]. This is a case where the testing pathway runs the other way from most C-adjacent labels: genetic testing is explicitly indicated when features point toward vascular, classical, or another EDS subtype, and this record says so plainly, since missing that distinction has real consequences. Both sources were retrieved via Crossref/PubMed abstract or a direct PDF fetch this session; the Wiley fulltext page for Malfait 2017 returned HTTP 403 to automated fetch and was not independently read beyond the abstract, an honest limitation of this session's source access rather than a gap in the underlying evidence base.

General clinical reference for Ajax Harwood Clinic. Not medical advice, and not a substitute for individualized clinical assessment.