Study reveals two-decade delay in hypermobility diagnoses

The study of more than 2,000 people found patients with Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD) waited an average of 19 to 21.7 years for diagnosis, with the longest delays reported in Wales. 

Researchers also found many patients travelled outside their home nation for diagnosis, highlighting major inequalities in access to specialist care. More than a third of Welsh (37 per cent) and Northern Irish (39 per cent) respondents reported leaving their country for diagnosis.

The findings suggest that limited care pathways and low awareness of hEDS and HSD among healthcare professionals are leaving patients without timely diagnosis or coordinated support. 

The conditions may affect hundreds of thousands of people in the UK, although many remain undiagnosed. They affect connective tissue throughout the body and are associated with joint hypermobility, chronic pain and fatigue, alongside gastrointestinal, neurological and psychological symptoms.

The study by researchers at the Institute of Genetics and Cancer was conducted using an online survey co-developed with patients, clinicians and charity Ehlers-Danlos Support UK between September 2023 and January 2024.

Chronic pain was reported by 84 per cent of respondents, while 74 per cent experienced partially dislocated joints and 66 per cent gastrointestinal symptoms. Anxiety (71 per cent), depression (63 per cent) and migraine (54 per cent) were also common.

The study also found high levels of neurodivergence, with 20 per cent reporting autism spectrum disorder, 18 per cent ADHD and 15 per cent dyslexia. 

Researchers say hEDS and HSD should be understood as complex multisystem conditions rather than disorders defined only by joint hypermobility.

Nearly half of respondents (46 per cent) were unemployed, 56 per cent reported disrupted education and 48 per cent received disability-related benefits.

Less than one third said their GP had initiated management, and just 13 per cent had access to a knowledgeable clinician. More than a quarter (27 per cent) paid privately for diagnosis.

Researchers are now calling for formalised care pathways, improved professional awareness, and multidisciplinary services integrating rheumatology, pain management, physiotherapy, occupational therapy and psychological support, alongside co-designed approaches reflecting neurodivergent needs.