BALTIMORE — It could be a trick at a party or a way to show off in front of friends.
"Did you ever kind of impress your friends with your ability to kind of stretch your arms farther back than other people would, or bend your thumbs back, or be able to kind of contort yourself in ways that other people couldn't?" asked Baltimore Mercy Medical Center neurogastroenterologist Dr. Bryan Curtin.
You might be double jointed.
Or just flexible.
But a small number of people would be diagnosed with Ehlers-Danlos syndrome.
It's considered rare, affecting one in 1000 people and symptoms can range from mild to life-threatening.
"I can just be walking and twist my ankle so fast," explained Heather, a 37 year old mother of two who didn't want to be further identified.
Every step on an uneven surface poses a challenge for her.
From the time she was little, Heather spent a lot of time tumbling to the ground, thinking at first, she was just clumsy.
She 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."
But as an adult, Heather began to also show signs of extreme stomach trouble.
Doctors began to suspect her symptoms were being caused EDS, which can affect the body's collagen.
"Think of Ehlers-Danlos kind of like a house that was built without mortar," said Dr. Curtin.
Click here to find specialists in your area who can help diagnose and treat EDS.
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 Dr. Curtin.
Dr. Curtin says while the condition is rare, because of the wide variety of symptoms, it's likely underdiagnosed.
"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."
Right now, there's no cure, but scientists are beginning to isolate the genes that cause EDS which could lead to better treatment.
What is the best treatment?
Treatment for Ehlers-Danlos syndrome aims to prevent dangerous complications.
It can also help protect the joints, skin, and other tissues from injuries.
An individual’s treatment depends on many factors, including the type of the disorder and symptoms.
- To protect the skin, doctors recommend using sunscreen and mild soaps
- Taking extra Vitamin C can help reduce bruising
- Physical therapy (exercises to strengthen the muscles supporting the joints) can help prevent joint injuries
- Braces also help stabilize joints.
Because blood vessels are fragile, doctors will monitor people with Ehlers-Danlos syndrome and may use medication to help keep blood pressure low and stable.
Dislocated joints and other joint injuries are common among people with Ehlers-Danlos syndrome.
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