Thousands of people across the UK are waiting up to 21 years for a diagnosis of hypermobility conditions such as hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). This prolonged delay leaves individuals struggling with debilitating symptoms, from chronic pain to partially dislocated joints, without adequate support or understanding. A new study, the largest of its kind in the UK, sheds light on this pressing issue.
The University of Edinburgh-led research surveyed over 2,000 people and revealed a concerning lack of awareness among British healthcare professionals about these complex conditions. Hypermobility conditions affect the body's connective tissues, leading to joint hypermobility, chronic pain, and fatigue, alongside a range of other symptoms impacting neurological, gastrointestinal, and psychological well-being.
The study highlights a pervasive issue of 'fragmented healthcare' for hEDS and HSD patients, with far-reaching consequences. Almost half (46%) of those surveyed were unemployed, while 48% were receiving disability-related benefits. Education was also significantly disrupted for 56%, leaving many unable to reach their full potential.
The prevalence of symptoms is stark: 84% reported chronic pain, 74% experienced partially dislocated joints, and 66% had gastrointestinal issues. The mental health impact is equally concerning, with 71% experiencing anxiety and 63% suffering from depression. As Kathryn Berg, trial and data manager at the University of Edinburgh's Institute of Genetics and Cancer, notes: 'This study highlights the profound impact hEDS and HSD can have across every aspect of life.'
Geographical disparities in diagnostic waits are also evident, with respondents in Wales facing the longest average wait at 21.7 years, followed by Northern Ireland (21.1 years), Scotland (19.5 years), and England (19 years). A significant number of patients, particularly from Wales and Northern Ireland (over a third), had to travel elsewhere in the UK to receive a diagnosis.
In response, the Welsh government acknowledged the 'long and complicated journeys' faced by patients and mentioned efforts to develop a 'draft community health pathway' to improve care and access to expertise within Wales. The UK government also acknowledged the challenges, stating that those living with hEDS and HSD deserve to have their symptoms recognised and taken seriously.
The study's findings underscore the need for equitable, multidisciplinary care pathways that acknowledge the complex nature of these conditions. Diagnosis typically involves a GP referral to a specialist, who may then refer for genetic testing or to other specialists like rheumatologists and physiotherapists.