P11 Assessing and managing the flexible child using the 2017 hypermobile Ehlers-Danlos syndromes diagnostic criteria: managing symptoms is more important than labels

Abstract

Background: In 2017, a new international classification for Ehlers-Danlos syndromes (EDS) was published following a consensus meeting in New York, USA. The new criteria for hypermobile EDS (hEDS) are more specific compared to previously termed EDShypermobility type (EDS-HT). They include the presence of hypermobile joints (Beighton score), of 12 physical features, a first degree family member independently meeting criteria, and the presence of musculoskeletal pain or dysfunction, in the absence of other diagnoses. The criteria has not been formally validated in a paediatric population. Method(s): Our aim was to evaluate the hEDS diagnostic criteria in a tertiary paediatric rheumatology centre. We retrospectively analysed the electronic records of patients seen in clinic between April 2017 and April 2018. Patients were included if the referral letter described joint pain, hypermobility, joint subluxation/dislocation or suspected EDS. Result(s): 73 patients met the inclusion criteria with ages ranging from 19 months to 16 years old. Three (4.1%) children were diagnosed with hEDS. Nine (12%) were asymptomatic and normal for age (seven), hypermobile (one) or referred to genetics for Loey Dietz (one). 57 (78%) were diagnosed with symptomatic hypermobility and four (5.4%) with biomechanical pain, not hypermobile (Table 1). All patients' symptoms were explained and confirmed hypermobile patients received an information leaflet. 54 (74%) children were referred to physiotherapy. 14 (19%) to occupational therapy, 12 (16%) were provided with exercise education in clinic, and seven (10%) received reassurance alone. Four (5%) were referred to psychology for chronic pain management. All patients meeting hEDS criteria were referred to a geneticist. They also received multidisciplinary team (MDT) input. 53 (73%) children were discharged following initial appointment. Conclusion(s): The aim of the hEDS diagnostic criteria is to identify a uniform phenotypic group for further research. Our study demonstrates that majority of children presenting with hypermobility and musculoskeletal pain do not meet the criteria. Exclusion of all heritable connective tissue disease is important clinically and provides families reassurance. The child's difficulties can then be the sole focus of management with promotion of increased level of functioning and pain management.