UK hypermobility sufferers wait up to 21 years for diagnosis, study suggests | Health

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

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

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, actress and director Lena Dunham revealed He spent years thinking his “flexible party tricks”, migraines, fainting spells and swollen knees were just quirks until he was diagnosed with hED, a hereditary disease, in his late 20s.

He drew attention to this situation in his last book: fame sickShe describes how she has “always struggled physically” but her symptoms seem widespread, “never brought together into a diagnosis, especially in a world where the pain of girls and women is ignored.”

Researchers found that patients with hED and HSD face “fragmented healthcare,” which can have a significant impact on their mental health, education, and employment.

Almost half of respondents to the online survey, conducted between September 2023 and January 2024, were unemployed (46%) and receiving disability-related benefits (48%), and most (56%) reported disruption to their education.

The majority (84%) reported chronic pain; Almost three-quarters (74%) had partial dislocation of joints, and two-thirds (66%) had gastrointestinal symptoms. 7 in 10 (71%) reported suffering from anxiety, 63% reported depression, and 53% reported migraine.

Kathryn Berg, director of trials and data at the University’s Genetics and Cancer Institute, said: “This study highlights the profound impact HEDS and HSD can have on all aspects of life. Our findings demonstrate the urgent need for equitable, multidisciplinary care pathways that recognize the complex and multi-system nature of these conditions.”

For diagnosis and treatment, patients often need a GP referral to a specialist for assessment. The specialist may then refer patients for genetic testing (although this is usually necessary in very rare cases) and to other specialist doctors such as rheumatologists and physiotherapists.

The study found that participants from Wales reported the longest “diagnostic journey”, waiting an average of 21.7 years between the appearance of symptoms and being diagnosed by a healthcare professional; It has been 21.1 years in Northern Ireland, 19.5 in Scotland and 19 years in England.

The researchers also found that many people traveled for diagnosis, with more than a third of Welsh and Northern Irish participants having to travel elsewhere in the UK for diagnosis; So did 17% of those suffering from the condition in Scotland.

People living in the UK have a 98% chance of receiving a diagnosis in their country of residence.

A Welsh government spokesman acknowledged that Welsh people suffering from the condition could face “long and complex journeys to diagnosis” and said it was seeking clinical approval for a “draft public health pathway” that would help people receive more consistent care and better access specialist expertise in Wales.

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

“A toolkit jointly developed by the Royal College of General Practitioners [the charity] EDS Support UK has been launched to support clinicians in recognizing and managing these complex conditions by improving awareness and consistency of care.”