Authors:
Prof. Cliffton Chan | Macquarie University | Australia
Prof. Jane Simmonds | University College London, Central Health Physiotherapy | United Kingdom
Ms Marie Coussens | Ghent University | Belgium
Ms Min Tze Chew | Macquarie University | Australia
The Beighton Score has long been the mainstay in detecting Generalised Joint Hypermobility (GJH). This easy-to-use screening tool offers clinicians a quick insight into a patient’s hypermobility who may warrant further management. Despite having age, sex and sport/cohort specific cut-offs established for better classification of GJH (Singh et al., 2017, Chan et al., 2018), more comprehensive assessments to improve clinical decision making are still needed. The Upper Limb Hypermobility Assessment Tool (Nicholson and Chan, 2018) and Lower Limb Assessment Score (Meyers et al., 2017) are tools that assess physiological and accessory mobility of all the major joints of the periphery and in all planes of movement. This allows for clearer directions when planning rehabilitation or injury reduction programs than the Beighton Score (Nicholson et al., 2022).
The most common diagnosis of a hypermobility-related disorder was previously called Joint Hypermobility Syndrome (JHS). Because of the significant and often clinically indistinguishable overlap between JHS and hypermobile Ehlers-Danlos Syndrome (hEDS)(Tinkle et al., 2009), the 2017 hEDS diagnostic criteria abandons use of the label JHS; instead considering it to be part of the clinical spectrum from asymptomatic JH to hEDS (Castori et al., 2017). The gap in diagnosis between people with symptomatic GJH who do not meet the criteria for hEDS is now filled by the descriptive diagnosis of Generalised Hypermobility Spectrum Disorder (G-HSD). The prevalence of hEDS and G-HSD using the new 2017 diagnostic criteria have not yet been established. The prevalence of JHS, likely a combination of those currently diagnosed with hEDS and G-HSD, is 1 in 500 to 600 in 2016/2017 (Demmler et al., 2019; Hakim et al., 2021). With a point prevalence of 30% attending a musculoskeletal triage clinic, and 39% in pain clinics in United Kingdom hospitals (Connelly et al., 2014; To et al., 2016), musculoskeletal physical therapists will come into contact with this patient population.
Despite the different diagnostic criteria, individuals with hEDS and G-HSD demonstrate similarities in their clinical profiles (Aubry-Rozier et al., 2021; Copetti et al., 2019). Both exhibit sustained reduced maximal muscle strength and endurance compared to controls. This reduction remains lower over an 8-year period, and is associated with high levels of physical impairment (Coussens et al., 2022; Coussens et al., 2020a). Both groups have smaller bone cortices, which may be related to prolonged decreased mechanical loading (Coussens et al., 2023). Indeed, physical activity levels in individuals with these disorders are also lower, with 75% not meeting the recommended 7500 daily steps due to kinesiophobia or pain-related factors.
Beyond finding greater odds of musculoskeletal diagnoses in the symptomatic hypermobile cohort compared to other chronic musculoskeletal pain cohorts, they experience higher diagnoses in other disease categories such as mental health, cardiovascular, nervous, and digestive systems (Demmler et al., 2019). Our Australian study similarly revealed some non-musculoskeletal problems that are common such as orthostatic intolerance (98%), easy bruising (97%) and urinary incontinence (84%) (Chan et al., 2019). These non-musculoskeletal manifestations significantly impact quality of life (De Wandele et al., 2014; Scheper et al., 2016). When seeking diagnosis and treatment, many patients report that these symptoms are neglected.
A comprehensive questionnaire tool, The Spider, has been developed to evaluate the impact of these important symptoms and guide care. Its eight domains assess neuromusculoskeletal, pain, fatigue, cardiac dysautonomia, urogenital, gastrointestinal, anxiety, and depression symptoms. The completed questionnaire produces a radar graph, shaped as a spider web allowing healthcare professionals to identify which symptoms should be prioritised, assessed and treated. Our research has demonstrated good convergent validity and known group validity in all domains in young adults (Ewer et al., 2022). Ongoing research is being undertaken to validate The Spider as a valid and reliable, free to access web-based outcome measure for use across the lifespan.
A multidisciplinary approach to the management of individuals with hEDS/G-HSD is recommended by experts in the field, with physical therapy playing a central role especially in pain management (Reychler et al., 2021). Pain is a major symptom in people with hEDS/G-HSD (Voermans et al., 2010), and they struggle to comprehend and effectively manage their complex pain presentations (Bennett et al. 2019). Our international Delphi survey on 396 participants with hEDS/G-HSD found that 81% felt an online pain management program specific to their condition was important or very important (Chew et al., 2023). Results of this survey were used for the development of the HOPE (Hypermobile Online Pain managEment) program. Its content covers the seven most highly rated categories from the Delphi study: pain neuroscience, the condition, accessing and navigating healthcare support, self-management, living with hEDS/G-HSD; medical management, and other associated topics (e.g. women’s health and neurodiversity).
Learning Objectives:
1. Recognise the spectrum of musculoskeletal and non-musculoskeletal manifestations, common comorbidities and natural history of hEDS/G-HSD.
2. Apply contemporary hypermobility assessment tools and advance clinical reasoning when assessing individuals with hEDS/G-HSD to develop a patient-centred approach to management
3. Evaluate the role of physical therapists in the overall management of individuals with hEDS/G-HSD particularly in pain management
Implication/Conclusions: Physical therapists working in primary and secondary care need to be able recognise hEDS/G-HSD and the common comorbidities in order to effectively manage these individuals.