Best Life: Understanding symptoms of Ehlers-Danlos syndrome
BALTIMORE, Md. (Ivanhoe Newswire) — Ehlers-Danlos syndrome actually has 13 different subtypes, but all impact the body’s connective tissue. It’s considered rare, affecting one in 1,000 people and symptoms can range from mild to life-threatening. Scientists are learning more about EDS in the hopes of helping patients better manage the symptoms and someday, find a cure.
Every step on an uneven surface poses a challenge for this 37-year-old mother of two. From the time she was little, Heather spent a lot of time tumbling to the ground, thinking at first, she was just clumsy.
“I can just be walking and twist my ankle so fast,” Heather told Ivanhoe.
Heather can still turn her feet and hips to what others would consider an uncomfortable angle.
“I kind of walk duck-like, my legs turn out,” said Heather.
But as an adult, Heather began to also show signs of extreme stomach trouble. Doctors began to suspect her symptoms were being caused by a condition that affects the body’s collagen, called Ehlers-Danlos syndrome, or EDS.
“Think of Ehlers-Danlos kind of like a house that was built without mortar. So, it may look normal from the outside, but it’s much more fragile, it’s much more prone to having problems because the connective tissue holding it together is not as strong as it needs to be,” said Bryan Curtin, MD, a neurogastroenterologist at Mercy Medical Center in Baltimore.
There are 13 types of EDS, and all have different symptoms but the most common among patients are hypermobility and gastrointestinal issues.
“Because the GI tract really relies on its elasticity, especially for motility purposes in order to move contents through,” said Curtin.
Curtin says while the condition is rare, because of the wide variety of symptoms, it’s likely underdiagnosed. Right now, there’s no cure, but scientists are beginning to isolate the genes that cause EDS which could lead to better treatment.
“That would be amazing,” said Heather.
Last month, researchers at the Medical University of South Carolina announced they had identified the gene mutation that caused the most common form of EDS, the hypermobility form. Mutations in about 20 genes have been previously found to be responsible for some of the other less common forms of EDS.
Contributors to this news report include: Cyndy McGrath, Producer; Kirk Manson, Videographer; Roque Correa, Editor.
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