People with hypermobile Ehlers-Danlos syndrome (EDS) wait an average of 21 years for a diagnosis, according to new research, with many dismissed along the way as anxious, stressed or hypochondriacs. Around 80 per cent of those affected are women.
The findings, published in the journal Disability and Rehabilitation and based on surveys of 2,000 people, echo the experience of BBC Radio 3 presenter Hannah French, 45, who lives in north London with her husband Paul, a communications director, and their 11-year-old daughter.
Hannah tripped and fell so often in her early 20s that she lost count of her injuries. "I would be walking down the street and my knee would suddenly give way, or I would tumble down the stairs for no apparent reason," she says. Once, the force of a sneeze dislocated her jaw.
"I'd often end up in A&E because my shoulder dislocated as I reached into the back of my car, or my knee had come out of place walking down the road," she says.
Doctors initially believed the problem was confined to her left knee, which was turning inwards, and at 28 she had surgery to cut the iliotibial band, the fibrous tissue running from hip to shin. It made no difference, because the real cause was hypermobile EDS, which was later identified by a rheumatologist from her range of movement and medical history.
What is Ehlers-Danlos syndrome
EDS is an umbrella term for 13 conditions in which the collagen forming the body's connective tissue is weaker than normal. Hypermobile EDS, Hannah's type, accounts for 90 per cent of cases and causes excessively flexible joints because the ligaments meant to hold them in place fail to do so.
Dr Benjamin Ellis, a consultant rheumatologist at Imperial College Healthcare NHS Trust in London, says those affected "may regularly pick up injuries such as twisted ankles or dislocated shoulders." Chronic pain and fatigue are also common, he says, often because the confused central nervous system creates relentless pain to slow the body down, rather than because of injury itself.
A year before her diagnosis, Hannah had agonising pain radiating from her knees and hips that painkillers could not touch, and she resorted to packs of frozen peas on her joints. When she began falling almost every time she left the house, she chose to use a wheelchair, aged just 28. "It seemed the safer option," she says. "It's frightening to keep falling - I was scared I would do real harm to myself."
Diagnosed after decades of doubt
Kathryn Berg, research manager at the Institute of Genetics and Cancer at the University of Edinburgh, who co-led the diagnosis study, says many patients were dismissed for years before being taken seriously. "Some were told by doctors they were just anxious, stressed or even that they were hypochondriacs," she says. Some, like Hannah, used wheelchairs to avoid further injury while still waiting years for a diagnosis.
Up to 300,000 people in the UK have EDS, according to a 2024 House of Commons debate, though this may be "the tip of the iceberg" given how often the condition is misdiagnosed or missed. Unlike rarer forms such as vascular EDS, where fragile blood vessels can develop life-threatening swellings, there is no genetic test for the hypermobile type.
Symptoms across the whole body
Because connective tissue is found throughout the body, hypermobile EDS can trigger numerous seemingly unrelated symptoms. Fragile skin and lax gut lining can cause constipation, since waste is not propelled along properly. "But others may have IBS," says Dr Ellis. "It is very variable." Hannah had this mixture of gut symptoms herself.
Other signs include bladder problems and postural orthostatic tachycardia syndrome (PoTS), where loose connective tissue in blood vessels fails to constrict properly on standing, causing the heart to race and blood to pool. "As a result, not enough blood reaches the brain temporarily and you feel faint," Dr Ellis says.
Diagnosis rests on signs such as being able to bend the thumb back to the forearm, widespread chronic pain, and highly stretchy skin, sometimes tested by pinching skin on the back of the hand beyond 1.5cm. This is harder to spot in older patients, and awareness among doctors remains low. "From what we've determined, some medical students get an hour on this subject and some none at all," Berg says.
Caught early, physiotherapy can stabilise joints and ease bladder problems, and dietary changes can help gut symptoms, Dr Ellis says, though he warns: "The longer the person goes unsupported, the harder it can be to improve symptoms."
Living with a lifelong condition
By the time Hannah was diagnosed in 2010, so much was "wrong" with her that she hesitated to list every symptom for the rheumatologist. "There are so many elements of your health that are affected you question if you're a hypochondriac," she says. Mild exertion could leave her needing days to recover, and even her crowded teeth and the local anaesthetic that rarely worked at the dentist were traced to EDS, which can affect jaw shape and cause tissue to disperse drugs too quickly. "But I was made to feel I was just making a fuss," she says.
Hypermobile EDS often runs in families, and Hannah realised relatives on her mother's side had lived with what was assumed to be mysterious chronic pain. "My great grandmother used to regularly have to take to her bed with pain and exhaustion - and people thought she was just a hypochondriac," she recalls.
There was no miracle cure after diagnosis, and Hannah gave up her career as a flautist because holding the instrument was too exhausting. She can take a few unaided steps but relies on her wheelchair "because otherwise I fall over." Pregnancy suited her surprisingly well, but she had a carefully managed caesarean rather than a natural birth.
Sent to a pain clinic in 2013, she learned coping strategies such as focusing on which specific body part hurts rather than feeling pain "all over." She still takes "stacks" of paracetamol, ibuprofen and codeine daily and keeps liquid morphine in the bathroom cabinet. After presenting the Proms for Radio 3 on consecutive nights, she needed a full day in bed to recover.
"My one wish is that I had been kinder to my younger self, rather than pushing through my pain and fatigue," she says. Knowing there is a high chance her daughter has inherited the condition, she adds: "We know what we are looking for now and if we can catch it early for her - and others - that could make all the difference."
