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.
Heather explained, “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 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,” Bryan Curtin, MD, a neurogastroenterologist at Mercy Medical Center in Baltimore, shared.
There are 13 types of EDS, and all have different symptoms but the most common among patients are hypermobility and gastrointestinal issues.
Bryan Curtin, MD, noted, “Because the GI tract really relies on its elasticity, especially for motility purposes in order to move contents through.”
Dr. 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,” exclaimed 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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TOPIC: EHLERS-DANLOS SYNDROME: SUPER FLEXIBLE, OR LIFE-THREATENING?
REPORT: MB #4948
BACKGROUND: Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissues primarily skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in the body. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if someone has a wound that requires stitches, because the skin often isn’t strong enough to hold them. A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of blood vessels, intestines or uterus to rupture. Because vascular Ehlers-Danlos syndrome can have serious potential complications in pregnancy, a patient may want to talk to a genetic counselor before starting a family.
DIAGNOSIS: Doctors may use a series of tests to diagnose EDS (except for hEDS) or rule out other similar conditions. These tests include genetic tests, skin biopsy, and echocardiogram. An echocardiogram uses sound waves to create moving images of the heart. This will show the doctor if there are any abnormalities present. A blood sample is taken from the arm and tested for mutations in certain genes. A skin biopsy is used to check for signs of abnormalities in collagen production. This involves removing a small sample of skin and checking it under a microscope. A DNA test can also confirm if a defective gene is present in an embryo. This form of testing is done when a woman’s eggs are fertilized outside of her body (in vitro fertilization).
CURRENT 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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