Ehlers-Danlos Syndrome: More Than Just Stretchy Skin and Bendy Joints

U.S. News - Anna Medaris Miller


One of the few sure things about the condition is that patients and professionals want answers.


When other kids tripped, they got back up. When Lara Bloom tripped, she got sent to the hospital. When other kids opened a jar of mayonnaise, they spread the contents on their sandwiches. When Bloom opened a jar of mayonnaise, she fractured her wrist. When other kids asked why she was always on crutches, Bloom wished she knew.


"I remember my friends not getting it; feeling very isolated and alone. No one understood – I didn't even understand," says Bloom, now a 36-year-old in London who estimates having broken her wrists 30 times in childhood. Using crutches to support her also injury-prone ankles only strained her wrists – which were eventually stabilized with pins – further. "It was just a vicious cycle of constant pain and no answer to any of the questions I had," she recalls.


Bloom finally got an answer about 12 years ago at age 24, when she was diagnosed with Ehlers-Danlos Syndrome, a heritable cluster of disorders that can affect connective tissues like the skin and joints. More than "stretchy skin and bendy joints," as Bloom puts it, the condition is often accompanied by symptoms including pain, fatigue, and digestive and psychological distress, as well as other chronic disorders like Postural Orthostatic Tachycardia Syndrome, or POTS. Some untreated patients may even have a greatly shortened lifespan if the condition affects their heart valves and leads to rupture. Bloom, for one, now attributes her constant childhood fractures and joint pain to the fragility of her soft tissues, which couldn't properly support her bones.


"For years I'd been told that nothing's wrong, and [I knew] deep down that I wasn't an anxious person, I wasn't a depressed person, I wasn't imagining what was going on – it was very, very real," Bloom says. "And finally finding out that there was a reason for everything I'd gone through as a child growing up was a real relief."


Research suggests Ehlers-Danlos Syndrome, which can manifest in several forms, may affect as few as 1 in 5,000 people, according to the Ehlers-Danlos Society, an international nonprofit dedicated to raising awareness of and funds for studying the condition. But anecdotal and clinical evidence suggests it affects as many as 1 in 100, says Bloom, the society's co-executive director, since many people are simply mis- or under-diagnosed.


And while more professionals – from dentists and physical therapists to psychiatrists and gastroenterologists – are beginning to recognize EDS as a possible culprit of various medical and mental health issues, "the problem," says Dr. Brad Tinkle, medical director of clinical genetics at Advocate Children's Hospital in the Chicago area, "is [that awareness] is not translated into a lot of patients feeling like they're being heard and taken care of."


Unknown Causes and Complicated Consequences


Of the various forms of EDS, health care providers and scientists seem to know the least about the hypermobile variety, which is by far the most common. "Almost all the others have genes associated with them," says Dr. Peter Byers, a professor at the University of Washington School of Medicine in Seattle, where he studies heritable disorders of the bone, blood vessels and skin. But while there may be a genetic component to hypermobile EDS, which tends to run in families, experts don't know precisely what it is.


They also don't know which symptoms often seen in EDS patients – think joint pain, sensory problems, severe fatigue, low blood pressure and digestive issues – are due to the EDS itself, some other condition accompanying it, a third-party cause like a virus or a lack of proper management. Plus, experts say simply labeling all people with hypermobility as EDS patients can make over-diagnosis as much of a problem as under- or misdiagnosis.


"Hypermobility is just a symptom, and when you tell someone they have EDS, unfortunately that leads to a lot of other problems," says Dr. Brad Landry, a pediatric rehabilitation specialist at the Mayo Clinic in Rochester, Minnesota. For example, patients may assume they're at risk for fatal heart conditions that only affect people with a rare form of EDS or attribute all of their health issues to the condition rather than seeking more suitable care.


But seeking an appropriate diagnosis and care isn't easy in part because the diagnostic guidelines haven't been updated in nearly 20 years (although Bloom's organization is working to change that) and in part because it's unclear which professionals are best-equipped for the job. "Primary care tends to think this is a specialist diagnosis, and specialists tend to think this is a primary care diagnosis and patients get caught in the middle," Tinkle says. If they're lucky, EDS patients work with a coordinated team that may include rheumatologists, geneticists, primary care doctors, physical therapists and mental health professionals.


No matter whom they see, medical intervention is critical for EDS patients' quality of life, Bloom says. "We've got this community of people who are far, far sicker than they need to be, a health care system that's spending far, far more money on these people than [it needs] to and not in the right way," she says. "And people are being passed from pillar to post, being told that everything is wrong except what is wrong, really, and it's got to stop."


Life With EDS


Bloom has come a long way since her childhood in and out of the hospital for unexplained injuries. She's come 26.2 miles, in fact, having completed the London Marathon in 2011. As far as she knows, she's the first person with EDS to have done so. "Prior to that, I struggled to walk one or two miles in my life," she says. "The pain stopped me every time."


But by building up her strength gradually through moderate exercise, following a low-FODMAP diet – an eating pattern that eliminates poorly digested carbohydrates – and taking high doses of vitamins like C, she's learned to live a full and active life with the condition. "You've got to get up and get moving to beat this,"Bloom says.


Health care professionals agree. Contrary to many EDS patients' instincts to sit still to prevent the severe pain that can come with physical activity, movement can help strengthen the tissues affected by EDS and ultimately help treat its symptoms, says Landry, who also discourages the use of braces among EDS patients and emphasizes the importance of high-quality sleep for pain management.


"I encourage all of my patients to participate in any activity they enjoy doing," Landry says. If they don't, he says, they may actually risk the very things they're often hoping to avoid, like injury and arthritis. "It takes a long time, it takes a focused, coordinated approach," Landry adds, "but hypermobility does not necessarily mean that you're destined to a life of pain."


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LARA BLOOM

President & CEO:

The Ehlers-Danlos Society

Patient Engagement & Advocacy Expert

for Rare, Chronic & Invisible Conditions

Public Speaker & Campaigner

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