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Am J Med Genet A. 2020 Mar;182(3):484-492. doi: 10.1002/ajmg.a.61459. Epub 2019 Dec 16.

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review.

Author information

1
Lawrence Bloomberg Faculty of Nursing, University of Toronto, Toronto, Ontario, Canada.
2
GoodHope EDS Clinic, Toronto General Hospital, Toronto, Ontario, Canada.
3
Department of Medicine, Division of Physical Medicine and Rehabilitation, University of Toronto, Toronto, Ontario, Canada.
4
Faculty of Kinesiology and Physical Education, University of Toronto, Toronto, Ontario, Canada.
5
The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Ontario, Canada.
6
Department of Rheumatology, Sinai Health System, Toronto, Ontario, Canada.
7
Department of Psychology, York University, Toronto, Ontario, Canada.
8
Department of Physical Therapy, University of Toronto, Toronto, Ontario, Canada.
9
Department of Medicine, Respirology and Lung Transplant Program, Toronto General Research Institute, University Health Network, University of Toronto, Toronto, Ontario, Canada.
10
Division Of Gastroenterology, Department of Medicine, Toronto Western Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada.
11
Department of Pathology and Lab Medicine, Sinai Health System, Toronto, Ontario, Canada.
12
Division of Allergy and Clinical Immunology, Department of Medicine, St. Michael's Hospital, Toronto, Ontario, Canada.
13
Department of Medicine, Division of Dermatology, University of Toronto, Toronto, Ontario, Canada.
14
Department of Medicine, McMaster University, Hamilton, Ontario, Canada.
15
Department of Anaesthesia and Pain Management, University of Toronto, Toronto, Ontario, Canada.

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 its diagnostic accuracy.

KEYWORDS:

Beighton; Ehlers-Danlos syndrome; diagnosis; hypermobility

PMID:
31840928
DOI:
10.1002/ajmg.a.61459

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