25 Application of the 2017 Hypermobile Ehlers Danlos Syndrome Diagnostic Criteria in a Paediatric Population

Background The genetic basis for hypermobile Ehlers Danlos Syndrome (hEDS) remains unknown. As such, it continues to be a clinical diagnosis. In March 2017, the International Consortium on EDS and Related Disorders published a revised set of diagnostic criteria for hEDS to help reduce heterogeneity between patients and enable researchers to ultimately identify the genetic cause. Currently there is a need to evaluate how these new criteria impact the diagnosis of hEDS in clinical settings. In 2017, the first paediatric EDS clinic in Canada opened to care for patients with suspected EDS. Since March of 2017, diagnostic assessment of all patients has included application of the 2017 criteria. Objectives (1) To determine diagnostic outcomes of patients referred to the EDS clinic in a 14-month period early in its operation. (2) To critically analyze the 2017 hEDS diagnostic criteria in a paediatric population with suspected EDS. Design/Methods We conducted a retrospective chart review of all patients seen in the EDS clinic between March 1, 2017 and April 30, 2018. Patient records from initial evaluations were used to construct a database containing demographic information, findings pertinent to the 2017 hEDS diagnostic criteria and non-diagnostic manifestations associated with hEDS. Patients were then stratified into subgroups and univariate analyses were conducted. Results One hundred and sixty-nine new patients were seen in the clinic in a 14-month period early in its operation. Eleven patients diagnosed with other subtypes of EDS and 6 patients with incomplete assessments were excluded from analysis. One hundred and fifty-two patients were analyzed for this study. There were 54 males and 98 females (2-6yo 18.4%, 7-11yo 25.0%, 12-18yo 56.6%). The majority of patients were referred by paediatricians or family physicians. The most frequent Beighton score, used to measure generalized joint hypermobility (GJH) was 4/9 amongst all patients, suggesting most patients did not present with GJH. Subgroups were established based on initial evaluations at the EDS clinic: Seven patients (4.6%) were diagnosed with hEDS, 30 patients (19.7%) demonstrated GJH and fulfilled some of the hEDS diagnostic criteria, 8 patients (5.3%) demonstrated GJH but did not fulfill any hEDS diagnostic criteria and 107 patients (70.4%) did not demonstrate GJH. Conclusion This research focuses on the challenges of diagnosing hEDS in the paediatric population and highlights the need for future re