Radio 3 presenter Hannah French experienced frequent, unexplained injuries throughout her early twenties, including dislocated knees and a dislocated jaw from a sneeze. Her struggles, which led to her using a wheelchair at age 28, were eventually diagnosed as hypermobile Ehlers-Danlos Syndrome (EDS), a condition affecting connective tissue throughout the body.
EDS is an umbrella term for 13 distinct conditions caused by defects in collagen, the protein that provides structure to connective tissues. Hypermobile EDS, accounting for 90% of cases, is characterized by overly flexible joints because ligaments fail to adequately stabilize them. This can result in frequent injuries like sprained ankles and dislocated shoulders, according to Dr. Benjamin Ellis, a consultant rheumatologist. Chronic pain and fatigue are also common, often stemming from the central nervous system's response to the body's unpredictable instability.
Delayed Diagnosis and Misconceptions
Research indicates that individuals with hypermobile EDS wait an average of 21 years for a diagnosis. A significant portion of those affected, around 80%, are women. Many report being dismissed by healthcare professionals, labeled as anxious, hysterical, or even hypochondriacs before receiving a diagnosis. Kathryn Berg, research manager at the Institute of Genetics and Cancer at the University of Edinburgh, co-led a study highlighting these diagnostic delays and the impact of misperceptions.
Wide-Ranging Symptoms
As connective tissue is found throughout the body, hypermobile EDS can manifest in a multitude of seemingly unrelated symptoms. These can include fragile skin, gastrointestinal issues such as constipation or Irritable Bowel Syndrome (IBS), and bladder problems. Postural orthostatic tachycardia syndrome (PoTS), where the heart races and dizziness occurs upon standing due to loose connective tissue in blood vessels, is also associated with EDS. Hannah French experienced a combination of gut issues and pain so severe that mild exertion required days of rest.
Diagnosis of hypermobile EDS typically relies on clinical signs, including joint hypermobility, widespread chronic pain, and skin elasticity. However, these signs can be harder to assess in older individuals, and awareness of the condition remains low, even among medical professionals. Some medical training programs offer minimal or no education on EDS.
Management and Impact
Early diagnosis of hypermobile EDS can facilitate management through physiotherapy to improve joint stability and address issues like bladder dysfunction. Dietary changes can help with some gastric problems. However, the longer a person goes without support, the more challenging it can be to manage symptoms. Hannah French had to abandon her career as a flautist due to the physical demands and now relies on a wheelchair to prevent falls. She also manages constant pain with a regimen of painkillers and utilizes pain management strategies.
While there is no genetic test for hypermobile EDS, unlike some rarer forms like vascular EDS, awareness and understanding are growing. Hannah French hopes that earlier identification for her daughter, who may have inherited the condition, will lead to a better quality of life.