What is Ehlers-Danlos Syndrome?
May 28th, 2012
11:12 AM ET

What is Ehlers-Danlos Syndrome?

Gioia found out she had Ehlers-Danlos Syndrome at the age of 7. For years her parents had struggled to figure out why their daughter was so easily injured, but doctors couldn’t offer a diagnosis.

See photos of Gioia as she learns to deal with the condition

Ehlers-Danlos Syndrome is actually a group of genetic disorders that cause problems with a patient’s connective tissues, according to Dr. Salman Kirmani, an expert on EDS at the Mayo Clinic. Collagen and other proteins in the connective tissues act like glue to support your skin, bones, blood vessels and internal organs.

There are three main types of EDS – hypermobility, classical, and vascular – but many others exist. A specific diagnosis is determined by the degree of symptoms a patient experiences.

With hypermobility, patients experience extreme double-jointedness, joint dislocation and joint pain. Classical EDS adds hyperelastic (or super stretchy), fragile skin to that list. The third most common type, vascular EDS, is the most dangerous. It results in weakness in blood vessels and internal organs that can rupture at any time.

EDS can be misdiagnosed for a long time, Kirmani said. Doctors may do a genetic blood test or skin biopsy to confirm but not all of the genes that cause the various types have been identified.

EDS was discovered in the early 1900s by Dr. Edward Ehlers and Dr. Henri-Alexandre Danlos. Still, little research has been done on its prevalence. The National Institutes of Health estimate that 1 in 5,000 people have it. It affects all genders and racial backgrounds.

“It can happen as the first time, even, in any family history,” Kirmani said, but “most of the time we see a family history of milder symptoms.”

Unfortunately, there is no cure, but Kirmani recommends seeking treatment from a team who knows and understands EDS.

“Even though we have no cure, we can certainly manage the complications quite adequately,” he said.

Managing the symptoms often involves physical therapy to strengthen muscles and over-the-counter drugs for pain.

Genetic counseling is also offered to patients, as those with EDS have a 50% chance of passing the condition on to their children.

Patients with EDS may be limited by their fragile skin or bone tissue – Kirmani and his team tell patients to avoid high-risk activities - yet the majority have a normal life expectancy.

For more information visit The Ehlers-Danlos National Foundation at ednf.org

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