What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your 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 your body. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them. A more severe form of the disorder, called Ehlers-Danlos syndrome, vascular type, can cause the walls of your blood vessels, intestines or uterus to rupture. Because Ehlers-Danlos syndrome, vascular type, can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family.

Diagnosis and treatment

Physicians typically diagnose EDS based on patient history, clinical examinations and genetic testing, according to NORD. Doctors can evaluate how extensible the skin is by gently pulling at it, and they may determine how mobile a patient’s joints are based on a measure called the Beighton scale. Imaging tests, including CT,MRI and X-ray scans, can help doctors spot structural abnormalities in heart valves, blood vessels, bones and other tissues. Doctors may also take tissue samples to examine collagen structure more closely. Genetic tests help doctors to determine which specific subtype of EDS a patient may have. The Ehlers-Danlos Society has a free, handy checklist of criteria to review for an EDS diagnosis.

Physicians recommend that patients with EDS avoid contact sports, weightlifting and other physical activities that could place those individuals at risk of injury, particularly to the joints, according to the Mayo Clinic. Exercises like walking, swimming, doing tai chi and using a stationary bike are good options for staying active while minimizing stress on the body. Depending on symptom severity, doctors may recommend that patients stay away from difficult-to-chew foods, as these may injure the jaw, and playing musical instruments that may put strain on the lungs, such as reeded wind or brass instruments.


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