Patients with hypermobility disorders in UK face diagnosis delays of up to 21 years

People in the UK with hypermobility-related conditions can wait as long as 21 years for a diagnosis while living with symptoms that include chronic pain, fatigue and partially dislocated joints, according to new research.

The study, involving more than 2,000 people and led by the University of Edinburgh, is believed to be the largest of its kind in the UK. It found that awareness of hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) remains low among healthcare professionals across Britain.

These conditions affect connective tissue throughout the body and are linked to joint hypermobility, long-term pain and exhaustion, as well as neurological, gastrointestinal and psychological symptoms.

Writer, actor and director Lena Dunham has spoken publicly about spending years assuming her migraines, fainting episodes, swollen knees and “bendy party tricks” were isolated quirks before being diagnosed with hEDS, a hereditary connective tissue disorder, in her late 20s.

In her recent book, Famesick, Dunham described how she had “always struggled physically” but that her symptoms were diffuse and were “never collated into a diagnosis, especially in a world where the pain of girls and women is dismissed”.

Researchers said patients with hEDS and HSD often encounter “fragmented healthcare”, which can have serious consequences for mental health, education and employment.

In the online survey, carried out between September 2023 and January 2024, almost half of respondents were unemployed (46%) and receiving disability-related benefits (48%), while most (56%) said their education had been disrupted.

The vast majority (84%) reported chronic pain; almost three-quarters (74%) had experienced partially dislocated joints and two-thirds (66%) had gastrointestinal symptoms. Seven out of 10 respondents (71%) reported anxiety, 63% reported depression and 53% said they suffered from migraines.

Kathryn Berg, trial and data manager at the university’s Institute of Genetics and Cancer, said: “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.”

Patients usually need a GP referral to a specialist for assessment before they can be diagnosed and treated. Specialists may then refer them for genetic testing, although this is typically only required in very rare presentations, and to other clinicians such as rheumatologists and physiotherapists.

The study found that respondents from Wales reported the longest “diagnostic journey”, waiting an average of 21.7 years between first experiencing symptoms and receiving a diagnosis from a healthcare professional. The average wait was 21.1 years in Northern Ireland, 19.5 years in Scotland and 19 years in England.

Researchers also found that many patients had travelled for a diagnosis. More than a third of respondents in Wales and Northern Ireland said they had to leave their part of the UK to be diagnosed, while 17% of people with the conditions in Scotland did the same.

People living in England were the most likely to receive a diagnosis within their country of residence, at 98%.

A Welsh government spokesperson acknowledged that people in Wales with the conditions could face “long and complicated journeys to diagnosis” and said it was seeking clinical endorsement for a “draft community health pathway” to support more consistent care and better access to specialist expertise.

A UK government spokesperson said: “People living with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders deserve to have their symptoms recognised and taken seriously, and we know long waits for a diagnosis can have a significant impact on patients and their families.

“A toolkit developed by the Royal College of General Practitioners, in partnership with the charity EDS Support UK, has been made available to clinicians to support them to recognise and manage these complex conditions by improving awareness and consistency of care.”

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