Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review
Abstract
The new 2017 diagnostic criteria for hypermobile Ehlers-Danlos Syndrome (hEDS) provide a framework for diagnosing hEDS but are more stringent than the previous Villefranche criteria. Our clinical experience at the GoodHope EDS clinic was that the 2017 criteria left many highly symptomatic patients without a diagnosis of hEDS. We conducted a retrospective cohort study to confirm our clinic experience and assess the accuracy of the 2017 diagnostic criteria for hEDS in patients who had a previous hEDS diagnosis based on the Villefranche criteria. Our study found that 15% (n = 20 of 131) of patients with a prior diagnosis of hEDS met the 2017 diagnostic criteria, and many of the traits used to distinguish hEDS were not significantly more frequent in patients who met 2017 criteria versus those who did not. In both groups objective systemic manifestations were found less frequently than subjective systemic manifestations. Beighton score (BS) as assessed by primary care practitioner was found to be higher than assessment by EDS practitioner in 81% (n = 74 of 91) of cases. Generalized joint hypermobility was confirmed in only 46% (n = 51 of 111) of patients who had a previous diagnosis of hEDS. Higher BS did not correlate with increased number of systemic manifestations in our cohort. Common comorbidities of hEDS were found with similar frequency in those who met 2017 criteria and those who did not. Based on our cohort, the 2017 hEDS diagnostic criteria require refinement to improve…
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Hypermobility is only a sub-symptom.
“which suggests that hypermobility is only a sub-symptom; this has recently been confirmed by McGillis et al.15”
The 2017 diagnostic criteria seemed not to adequately identify the more severely affected patients.
“Unfortunately in recent cohort publications [16, 17], these new criteria seemed to not adequately identify the more severely affected patients”
From Are patients with hypermobile Ehlers–Danlos syndrome or hypermobility spectrum disorder so different? (2021) · cites this paper as [16]
The proportion of women, mean age, prevalence of pain, and fatigue in the sample are similar to those in prior studies.
“Reassuringly, the proportion of women [16, 17], mean age, prevalence of pain, and fatigue are similar to that in prior studies [16, 17, 40].”
From Are patients with hypermobile Ehlers–Danlos syndrome or hypermobility spectrum disorder so different? (2021) · cites this paper as [16]
Piezogenic papules were no more frequent in hEDS than HSD patients in our cohort.
“As for Mc Gillis et al. [16], piezogenic papules were no more frequent in hEDS than HSD patients in our larger hEDS cohort.”
From Are patients with hypermobile Ehlers–Danlos syndrome or hypermobility spectrum disorder so different? (2021) · cites this paper as [16]
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- Authors
- McGillis, L., Mittal, N., Santa Mina, D., So, J., Soowamber, M., Weinrib, A., Soever, L., Rozenberg, D., Liu, L., Tse, Y., Katz, J., Charames, G. S., Murphy, K., Vadas, P., Slepian, M. P., Walsh, S., Wilson, L., Adler, A., Franzese, A., Hussey, L., Nevay, D., Guzman, J., & Clarke, H.
- Affiliations
- University of Toronto (CA)
- GoodHope EDS Clinic Toronto General Hospital Toronto Ontario Canada
- University Health Network (CA)
- Mount Sinai Hospital (CA)
- York University (CA)
- Toronto General Hospital (CA)
- St. Michael's Hospital (CA)
- Department of Medicine McMaster University Hamilton Ontario Canada
- Corresponding author
- McGillis, Laura
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2019-12-16
- Volume
- 182
- Issue
- 3
- Pages
- 484-492
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2995570213
- Cited by
- 35
- References
- 27
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 6 · 2023: 3 · 2022: 8 · 2021: 8 · 2020: 1
- FWCI
- 2.56
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- UHN consisting of Scott McIntaggart
- Sandra Grgas and Lianne Mclean
- Ministry of Health and Long Term Care in Ontario and the Toronto General Hospital Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Pharmacology › Musculoskeletal pain and rehabilitation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- hypermobile Ehlers-Danlos syndrome, diagnostic accuracy, Beighton score, joint hypermobility, systemic manifestations, comorbidities
- MeSH terms
- Adolescent, Adult, Ehlers-Danlos Syndrome, Female, Humans, Joint Instability, Male, Middle Aged, Retrospective Studies, Cohort Studies, Young Adult
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