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Some call it the Cirque du Soleil disease.
That’s because the Ehlers-Danlos Syndromes (EDS) tend to affect people who are exceptionally flexible: gymnasts, dancers, contortionists. The disorders weaken the body’s connective tissue, which means that most people with Ehlers-Danlos have highly elastic joints and stretchy skin.
An experts panel described the unusual epidemiology of the rare disease in the March 2017 issue of the American Journal of Medical Genetics: “For many centuries,” they wrote, “affected individuals earned their livings as the Elastic Skin Man, the India Rubber Man, and the Human Pretzel, amazing their audiences in fairgrounds and circus sideshows by exhibiting contortionist tricks — and a remarkable ability to stretch their skin.”
Nicoleta Woinarosky, an Ottawa woman diagnosed with Hypermobile EDS, was a competitive gymnast as a child. Even as an adult beset by the chronic pain that often accompanies EDS, she could still stand with her legs straight and her palms on the floor.
“I used to think everybody was supposed to be this flexible,” said Woinarosky, a health researcher who co-authored one of the articles published in the American Journal of Medical Genetics.
Woinarosky’s extreme flexibility is, in fact, one of the defining features of her rare disease.
There are now 13 identified subtypes of Ehlers-Danlos, which can differ vastly from one another. People with Classical EDS have skin that damages easily and scars broadly. Those with Dermatosparaxis EDS tend to have loose skin that sags and wrinkles, while those with Vascular EDS can experience life-threatening tears in their blood vessels.
“The point that I cannot stress enough is that while they are all called Ehlers-Danlos, the subtypes are very different diseases,” said CHEO geneticist Dr. Julie Richer, who specializes in the identification and treatment of EDS.
Mutations in at least 19 genes have been linked to the syndromes. Some are associated with the body’s production of collagen, which gives structure and strength to its connective tissue.
New medical guidelines for the diagnosis of EDS were issued in March 2017 based on the rapidly evolving scientific understanding of the disease.
Also last year, the province opened a two-site EDS clinic at The Hospital for Sick Children and Toronto General Hospital. Patients with more severe forms of the disease are referred from across Ontario to the clinic, which provides access to a wide range of specialists, including neurologists, rheumatologists, physiotherapists and geneticists.
Treatment has to be tailored to the disease sub-type. For those with Hypermobile EDS — the most common form of the disorder — exercise is key to its management.
“If a joint moves too much, it means it’s unstable and there’s more friction,” Richer explained. “Over time, that hurts and can damage the joint so it’s important for these people to have either physiotherapy or an exercise program so that they can use their muscles to compensate for the fact that their ligaments are too loose.”
People with Hypermobile EDS, Richer said, have to maintain their exercise regimen or else their joints become “too loosey-goosey.”
“What I tell my patients is that they’re condemned to be fit because they need those muscles to stabilize those joints. If they don’t have those muscles, then they move too much and it hurts.”
Sandy Smeenk, co-founder and executive director of the ILC Foundation, a charity committed to helping those living with chronic pain and Ehlers-Danlos, says people with advanced EDS often have difficult lives.
“It affects every aspect of life,” she said. “Their hopes and dreams can be dashed.”
Smeenk said chronic pain conditions such as EDS need to be better understood by both the medical community and the public. “We need more education and more research,” she said. “There’s been positive movement without question, and we’re thrilled about it, but we have a long way to go.”
aduffy@postmedia.com
查看原文...
That’s because the Ehlers-Danlos Syndromes (EDS) tend to affect people who are exceptionally flexible: gymnasts, dancers, contortionists. The disorders weaken the body’s connective tissue, which means that most people with Ehlers-Danlos have highly elastic joints and stretchy skin.
An experts panel described the unusual epidemiology of the rare disease in the March 2017 issue of the American Journal of Medical Genetics: “For many centuries,” they wrote, “affected individuals earned their livings as the Elastic Skin Man, the India Rubber Man, and the Human Pretzel, amazing their audiences in fairgrounds and circus sideshows by exhibiting contortionist tricks — and a remarkable ability to stretch their skin.”
Nicoleta Woinarosky, an Ottawa woman diagnosed with Hypermobile EDS, was a competitive gymnast as a child. Even as an adult beset by the chronic pain that often accompanies EDS, she could still stand with her legs straight and her palms on the floor.
“I used to think everybody was supposed to be this flexible,” said Woinarosky, a health researcher who co-authored one of the articles published in the American Journal of Medical Genetics.
Woinarosky’s extreme flexibility is, in fact, one of the defining features of her rare disease.
There are now 13 identified subtypes of Ehlers-Danlos, which can differ vastly from one another. People with Classical EDS have skin that damages easily and scars broadly. Those with Dermatosparaxis EDS tend to have loose skin that sags and wrinkles, while those with Vascular EDS can experience life-threatening tears in their blood vessels.
“The point that I cannot stress enough is that while they are all called Ehlers-Danlos, the subtypes are very different diseases,” said CHEO geneticist Dr. Julie Richer, who specializes in the identification and treatment of EDS.
Mutations in at least 19 genes have been linked to the syndromes. Some are associated with the body’s production of collagen, which gives structure and strength to its connective tissue.
New medical guidelines for the diagnosis of EDS were issued in March 2017 based on the rapidly evolving scientific understanding of the disease.
Also last year, the province opened a two-site EDS clinic at The Hospital for Sick Children and Toronto General Hospital. Patients with more severe forms of the disease are referred from across Ontario to the clinic, which provides access to a wide range of specialists, including neurologists, rheumatologists, physiotherapists and geneticists.
Treatment has to be tailored to the disease sub-type. For those with Hypermobile EDS — the most common form of the disorder — exercise is key to its management.
“If a joint moves too much, it means it’s unstable and there’s more friction,” Richer explained. “Over time, that hurts and can damage the joint so it’s important for these people to have either physiotherapy or an exercise program so that they can use their muscles to compensate for the fact that their ligaments are too loose.”
People with Hypermobile EDS, Richer said, have to maintain their exercise regimen or else their joints become “too loosey-goosey.”
“What I tell my patients is that they’re condemned to be fit because they need those muscles to stabilize those joints. If they don’t have those muscles, then they move too much and it hurts.”
Sandy Smeenk, co-founder and executive director of the ILC Foundation, a charity committed to helping those living with chronic pain and Ehlers-Danlos, says people with advanced EDS often have difficult lives.
“It affects every aspect of life,” she said. “Their hopes and dreams can be dashed.”
Smeenk said chronic pain conditions such as EDS need to be better understood by both the medical community and the public. “We need more education and more research,” she said. “There’s been positive movement without question, and we’re thrilled about it, but we have a long way to go.”
aduffy@postmedia.com
查看原文...
