Review of the 2017 International Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD)
Refining the 2017 Diagnostic Criteria
Review of the 2017 International Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD)
A Global Collaboration in Diagnostic Research
The hEDS/HSD Criteria Review Study is an international research effort led by the hEDS/HSD Working Group of the International Consortium (IC) on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders.
The study aims to evaluate and refine the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD), making diagnosis more accurate, inclusive, and useful in clinical practice worldwide.
By the Numbers
A landmark international study working to improve accuracy and access to diagnosis for people with hEDS and HSD.
Why the Study Matters
The 2017 international diagnostic criteria for hypermobile Ehlers-Danlos syndrome (hEDS) and the framework for hypermobility spectrum disorders (HSD) were a major step forward in defining these conditions.
However, clinicians and patients worldwide have raised important questions about whether the current criteria capture the full range of signs, symptoms, and associated conditions seen in people with hEDS and HSD.
The hEDS/HSD Criteria Review Study was launched to address these questions and to refine the diagnostic criteria so that they are:
- More inclusive of the diversity of patient presentations
- More practical and accurate in clinical settings
- More reflective of the current understanding of comorbidities and associated features
A Global Effort
This study is being undertaken by the hEDS/HSD Working Group of the International Consortium on the Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders.
Study Leadership
- Principal Investigators: Dr. Alan J. Hakim and Dr. Clair A. Francomano
- Statistician: Dr. Jane Schubart
- Research Administration Team: Beth Pillow-Edwards (Manager) and Emma Wimbury (Coordinator)
- Study Advisors: The hEDS/HSD Working Group, International Consortium on EDS and HSD
Study Site Leads
Dr. Nimish Mittal (Canada) • Dr. Clair Francomano (USA) • Dr. Christina Laukaitis (USA) • Dr. Dacre Knight (USA) • Dr. Patricia Grether (Mexico) • Dr. Helen Cohen (UK) • Prof. Fransiska Malfait (Belgium) • Dr. Fraser Burling (New Zealand)
Study Overview
Years active: 2022–2025
Recruitment: 326 participants across eight international clinical sites
Study groups:
- Group 1 – Individuals diagnosed with hEDS (2017 criteria)
- Group 2 – Individuals diagnosed with HSD
- Group 3 – Controls with other non-hypermobile chronic pain conditions
Ethical Approval:
WCG Western Institutional Review Board (WIRB)
Compliant with ICH-GCP research standards
Study Aims
- Assess the performance of the 2017 diagnostic criteria for hEDS and HSD in clinical practice.
- Identify signs, symptoms, and comorbidities that most effectively differentiate hEDS and HSD from other chronic pain disorders.
- Evaluate additional joint assessments beyond the Beighton score to improve recognition of generalized joint hypermobility.
- Develop and test revised diagnostic models for hEDS and HSD to improve accuracy and reduce misdiagnosis.
- Explore potential future integration of genetic and biomarker findings (for example, from the HEDGE Study) into revised diagnostic frameworks.
Study Methods
- Participants: Adults aged 18 years or older referred for assessment of chronic pain disorders.
- Exclusions: Individuals with suspected or confirmed diagnoses of other EDS types, heritable connective tissue disorders, or neuromuscular conditions.
- Data collection: REDCap database; data collected at clinical sites and through
Clinical measures included:
- Beighton Score plus four additional joint assessments (shoulder flexion, forearm rotation, ankle dorsiflexion, and big toe (first MTP) dorsiflexion)
- Musculoskeletal, skin, cardiovascular, neurological, gastrointestinal, urogenital, and psychological features
- Comorbidities assessed using validated frameworks such as the Rome IV Criteria
Statistical analyses:
Univariate analysis, latent class analysis, and logistic regression modelling to identify combinations of variables that most strongly predict hEDS/HSD.
Machine learning to determine subtle meaningful differences in the data.
Preliminary Findings
Findings presented at the 2025 International Scientific Symposium on EDS and HSD include:
- Analysis identified new variable combinations that successfully separated individuals with hEDS/HSD from controls.
- One significant example was the presence of three-or-more of four skin-related parameters, which strongly predicted hEDS/HSD classification.
- However, no single measure or variable clearly distinguishes hEDS from HSD. Combinations of variables need to be tested.
- These findings support the understanding that hEDS and HSD exist on a shared biological spectrum with overlapping features and comorbidities.
Clinical Implications and Next Steps
- The research team will test both:
- An expanded 4-joint hypermobility assessment alongside the Beighton score.
- A proposed revised model for diagnosing hEDS and HSD.
- This model will be tested in a second study due to start at the end of 2025 and take place in real-world clinical practice to evaluate whether they improve diagnostic accuracy and ease of use.
- Future studies may integrate potential genetic or biomarker findings if identified during or after this study.
- Results and recommendations for any updates to the diagnostic criteria are expected in late 2026.
Funding and Oversight
The study is funded by a private donation administered as a research grant through The Ehlers-Danlos Society, which, as the study Sponsor also provides the research governance, administrative infrastructure, and data management support.
Acknowledgments
The Ehlers-Danlos Society and the hEDS/HSD Working Group of the International Consortium thank:
- The international research teams and site investigators
- The 326 participants whose involvement is advancing understanding of hEDS and HSD
- The wider community, clinicians, and researchers contributing to the development of improved diagnostic tools and patient care
