Welsh patients wait more than two decades for hypermobility diagnosis, study finds

Nation.Cymru staff/agencies

People in Wales face the longest waits in the UK for a diagnosis of hypermobility-related conditions, with some spending more than two decades seeking answers, according to new research.

A major UK-wide study found Welsh patients waited an average of 21.7 years between first experiencing symptoms and receiving a diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD).

Researchers also found that more than a third of Welsh patients travelled outside Wales to obtain a diagnosis, highlighting concerns about access to specialist services.

The University of Edinburgh-led study, believed to be the largest of its kind in the UK, surveyed more than 2,000 people living with the conditions.

Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders affect connective tissue throughout the body and can cause joint hypermobility, chronic pain and fatigue, alongside a range of neurological, gastrointestinal and psychological symptoms.

Researchers found Welsh patients reported the longest “diagnostic journey” of any UK nation, with average waits of 21.7 years. This compared with 21.1 years in Northern Ireland, 19.5 years in Scotland and 19 years in England.

More than 37% of respondents from Wales said they had travelled outside the country to obtain a diagnosis, compared with 17.4% in Scotland. In England, 97.6% of patients received a diagnosis within their home nation.

The study found the conditions can have a significant impact on daily life.

More than 83% of respondents reported chronic pain, while nearly three-quarters experienced partially dislocated joints. Around two-thirds reported gastrointestinal symptoms.

Mental health difficulties were also common, with 70.8% reporting anxiety and 63.3% reporting depression. More than half experienced migraines.

Researchers found the conditions also had wider social and economic consequences. More than half of respondents said their education had been disrupted, while almost half were unemployed and nearly half received disability-related benefits.

Kathryn Berg, trial and research manager at the University of Edinburgh’s Institute of Genetics and Cancer, said the findings highlighted the need for better support.

She 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.”

The researchers said low awareness among healthcare professionals and a lack of co-ordinated care pathways were contributing to lengthy delays in diagnosis.

They have called for greater professional awareness and more integrated services bringing together specialists in rheumatology, pain management, physiotherapy, occupational therapy and psychological support.

Responding to the findings, the Welsh Government said work was underway to improve support for people living with the conditions.

Complicated

A spokesperson said: “NHS Wales is working to improve the experience of people with hypermobility spectrum disorders and Ehlers-Danlos syndrome, who can face long and complicated journeys to diagnosis.

“A draft community health pathway has been developed with clinical experts across rheumatology, physiotherapy, and primary care, alongside Ehlers-Danlos Support UK, to help people receive more consistent care, closer to home, with access to specialist expertise where needed.

“Work is ongoing with partners to secure formal agreement so the pathway can be put into place with the appropriate clinical endorsement.”

The study was conducted between September 2023 and January 2024 and has been published in the journal Disability and Rehabilitation.