THU0483 DEMOGRAPHICS AND CLINICAL CHARACTERISTICS OF A NATIONAL COHORT OF 280 PATIENTS WITH JOINT HYPERMOBILITY SYNDROME, THEIR SOCIOECONOMIC BURDEN AND THE PERFORMANCE OF THE 2017 INTERNATIONAL CLASSIFICATION CRITERIA OF THE EHLERS DANLOS SYNDROMES
Authors: Mirjana Dojcinovska
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background</h3> Joint hypermobility syndromes (JHS) encompass a spectrum ranging from asymptomatic joint hypermobility through to Ehlers Danlos syndromes (EDS) including hypermobile EDS (equivalent to the former diagnosis of EDS type 3). Many EDS patients have significant musculoskeletal pain and other systemic comorbidities including autonomic, bowel and bladder dysfunction. We present data from a cohort of patients with JHS referred to our tertiary centre from December 2015 to May 2017. <h3>Objectives</h3> To increase the awareness of the hypermobility syndrome among general rheumatologists and other health professionals To assess the impact of this condition on the patient general health and their work disability To reflect on the 2017 Ehlers Danlos International Criteria <h3>Methods</h3> We undertook a retrospective analysis of medical records. Statistical analysis utilised non parametric Chi squared analysis for between group comparisons <h3>Results</h3> There were 280 patients: 253 patients (90%) were female and 27 were male (10%) with a female to male ratio of 9:1. The age distribution was from 18 to 66 (mean age 42 years). The age at which they were first diagnosed ranged from 4 to 55 (mean age 29 years); 279 (96%) had Ehlers Danlos Syndrome type 3, one patient had Marfan's, one Kyphoscoliotic EDS, and two patients had Tenascin X deficiency. Family history of hypermobility was reported among 185 patients (66%). In relation to the autonomic dysfunction, 185 patients (66%) had orthostatic intolerance, 126 (45%) had gastrointestinal problems; 109 (39%) had bladder dysfunction with 2.5% of them requiring catheterisation. Chronic joint and muscle pain was reported in 91%; 49.6% of these used opioid analgesia long term. One hundred and twenty patients (43%) had work disability. Patients taking opioids were more likely to have work disability: 54% vs. 34% <i>(p</i><i>&lt;</i>0.001). Bladder problems were more common in the group taking opioids (46% vs 32%; <i>p</i><i>&lt;</i>0.02). A significant association between orthostatic intolerance and bowel problems was observed. Almost half (47%) of those with orthostatic intolerance had bowel problems, compared to only 19% without (p&lt;0.001). Patients with bowel problems were more likely to have bladder problems compared to those without bowel problems (<i>P</i> &lt;0.001). <h3>Conclusion</h3> The 2017 EDS International Classification defined thirteen subtypes of EDS. The molecular basis for the hypermobile Ehlers Danlos Syndrome (previously Ehlers Danlos Syndrome type 3) remains to be identified and diagnosis is clinical, preferentially characterised by joint hypermobility, skin hyper extensibility and tissue fragility. However, this study shows that systemic manifestations are frequently observed and they tend to appear in clusters. As important is the diagnosis of joint hypermobility, the same is the recognition of every aspect of hypermobility syndrome. A tailored multidisciplinary approach can potently improve the quality of life and lessen the socioeconomic and NHS burden of these patients. In addition we would strongly discourage use of opioids in patients with hypermobility. <h3>Reference</h3> [1] Fransiska Malfait at al : The 2017 international classification of Ehlers –Danlos syndromes. American Journal of medical Genetics Part C: Seminars in medical Genetics, Vol 175, Issue 1, March 2017, pages 8-26 <h3>Disclosure of Interests</h3> None declared