UK Hypermobility Patients Face Decades-Long Wait for Diagnosis

People in the UK with hypermobility conditions are waiting up to 21 years to be diagnosed while suffering from symptoms ranging from chronic pain to partially dislocated joints, research suggests.

The study of more than 2,000 people, which was led by the University of Edinburgh and described as the largest of its kind in the UK, indicates awareness of hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) is low among British healthcare professionals.

The conditions affect connective tissue throughout the body and are associated with joint hypermobility, chronic pain and fatigue, alongside neurological, gastrointestinal and psychological symptoms.

The writer, actor and director Lena Dunham has revealed she spent years thinking her “bendy party tricks”, migraines, fainting spells and swollen knees were just quirks, until she was diagnosed with hEDs – a hereditary disorder – in her late 20s.

She highlighted the condition in her recent book, Famesick, describing how she had “always struggled physically” but because her symptoms seemed diffuse, they were “never collated into a diagnosis, especially in a world where the pain of girls and women is dismissed”.

Researchers found patients with hEDs and HSD faced “fragmented healthcare” and this could have a significant impact on their mental health, education and employment.

Almost half the respondents to the online survey, which was carried out between September 2023 and January 2024, were unemployed (46%) and in receipt of disability-related benefits (48%) and most (56%) reported disrupted education.

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

Kathryn Berg, the 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.”

To be diagnosed and treated, patients usually need a GP referral to a specialist for assessment. The specialist can then refer patients for genetic testing – although this is typically only necessary for very rare presentations – and to other specialist physicians such as rheumatologists and physiotherapists.

The study found respondents from Wales reported the longest “diagnostic journey”, waiting on average 21.7 years between symptom presentation and diagnosis by a healthcare professional; while it was 21.1 years for Northern Ireland, 19.5 for Scotland and 19 for England.

The researchers also found many people had travelled for a diagnosis, with more than a third of Welsh and Northern Irish respondents having to leave for another part of the UK to get diagnosed; while 17% of sufferers of the conditions in Scotland did the same.

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

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

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.”