A study, led by experts at the University of Nottingham, has found that persistent and distressing upper gut symptoms experienced by people with hypermobile Ehlers-Danlos syndrome (hEDS), are not due to structural problems with the gullet (oesophagus), as previously assumed.
The findings of the research, which are published in Clinical Gastroenterology and Hepatology (American Gastroenterological Association), offer a clearer explanation, and a new direction for care for this complex and often misunderstood condition.
The study was led by Dr Mohsin Butt from the School of Medicine at the University of Nottingham, in collaboration with colleagues at Queen Mary University of London and University College London.
Ehlers-Danlos syndromes (EDS) are a group of 13 inherited genetic disorders that weaken connective tissues, affecting joints, skin, and blood vessels. Key symptoms include hypermobile (overly flexible) joints, chronic pain, extreme fatigue, and fragile, stretchy skin.
Gastrointestinal symptoms are common in EDS, particularly hEDS, affecting over 50% of patients. Key symptoms include nausea, difficulty swallowing, acid reflux, bloating, constipation, diarrhoea, and chronic abdominal pain. Until now, upper gut symptoms (difficulty swallowing and acid reflux) were thought to reflect physical problems with the gullet — how it moves (motility) or handles acid. However, this new research reveals a different story.
The research found that despite a high burden of gut symptoms, patients with hEDS were no more likely than people without hEDS to have abnormal gullet motility or measurable acid reflux when tested. In fact, most individuals had normal results.
Dr Butt, the lead author of the study, said: "I have been interested in hEDS since medical school, and have long been struck by the burden of gut symptoms in these patients. So, what's behind these distressing upper gut symptoms? Our findings suggest that the answer may lie in the brain–gut connection.
"Patients with hEDS appear to have heightened sensitivity and altered signalling between the gut and the brain, rather than structural abnormalities detectable on standard tests. Importantly, these symptoms are real and can have a detrimental effect on quality of life. Our findings highlight the need for a comprehensive, biopsychosocial approach to care."
