A new study led by the University of Edinburgh has found that individuals in the UK with hypermobility conditions endure waits of up to 21 years before receiving a diagnosis. The research, which surveyed more than 2,000 people and is described as the largest of its kind in the UK, highlights a significant lack of awareness about hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) among British healthcare professionals.
Understanding Hypermobility Conditions
These conditions affect connective tissue throughout the body and are associated with joint hypermobility, chronic pain, and fatigue, as well as neurological, gastrointestinal, and psychological symptoms. Writer, actor, and director Lena Dunham has publicly shared her experience, revealing that she spent years dismissing her “bendy party tricks,” migraines, fainting spells, and swollen knees as mere quirks until she was diagnosed with hEDS—a hereditary disorder—in her late 20s. In her recent book, Famesick, she described how her symptoms were “never collated into a diagnosis, especially in a world where the pain of girls and women is dismissed.”
Impact on Daily Life
Researchers found that patients with hEDS and HSD face “fragmented healthcare,” which can significantly affect their mental health, education, and employment. Nearly half of the respondents to the online survey, conducted between September 2023 and January 2024, were unemployed (46%) and receiving disability-related benefits (48%). Most (56%) reported disrupted education. The vast majority (84%) experienced chronic pain, while almost three-quarters (74%) had partially dislocated joints, two-thirds (66%) had gastrointestinal symptoms, 71% reported anxiety, 63% reported depression, and 53% suffered from migraines.
Diagnostic Journey and Regional Disparities
To receive a diagnosis and treatment, patients typically need a GP referral to a specialist for assessment. The specialist can then refer them for genetic testing—though this is usually only necessary for very rare presentations—and to other specialists such as rheumatologists and physiotherapists. The study found that respondents from Wales experienced the longest “diagnostic journey,” waiting an average of 21.7 years between symptom onset and diagnosis. This figure was 21.1 years for Northern Ireland, 19.5 years for Scotland, and 19 years for England.
Many patients traveled for a diagnosis: more than a third of Welsh and Northern Irish respondents had to leave their region to get diagnosed, while 17% of Scottish sufferers did the same. In contrast, 98% of people living in England received a diagnosis within their country of residence.
Calls for Improved Care
Kathryn Berg, trial and data manager at the University of Edinburgh’s Institute of Genetics and Cancer, stated: “This study highlights the profound impact hEDS and HSD can have across every aspect of life. Our findings show the urgent need for equitable, multidisciplinary care pathways that recognise the complex and multisystemic nature of these conditions.”
A Welsh government spokesperson acknowledged that Welsh sufferers may face “long and complicated journeys to diagnosis” and noted that they are seeking clinical endorsement for a “draft community health pathway” to provide more consistent care and better access to specialist expertise in Wales. A UK government spokesperson added: “People living with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders deserve to have their symptoms recognised and taken seriously. A toolkit developed by the Royal College of General Practitioners, in partnership with EDS Support UK, has been made available to clinicians to support them in recognising and managing these complex conditions.”
