Ehlers-Danlos Syndrome

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is a group of genetic disorders that weakens the support for key body structures such as skin and bones, blood vessels and organs. It can lead to chronic pain, arthritis early in life or in some cases, the life-threatening rupture of major blood vessels or organs.

Causes

Ehlers-Danlos syndrome is caused by genetic disorders that create problems with collagen, a protein that helps support many of the body´s structures.

Risk Factors

A family history of Ehlers-Danlos syndrome is the main risk factor.

What are the Symptoms?

• Painful, popping or dislocated joints or joints that are more flexible than normal
• Double jointedness
• Early arthritis
• Flat feet
• Easily damaged, stretchy or soft skin
• Skin that easily scars and skin wounds that are slow to heal
• Vision problems

How is Ehlers-Danlos Syndrome Diagnosed?

• Echocardiogram: An exam that evaluates the structure and function of the heart, arteries and other structures in the chest through sound waves recorded on an electronic sensor.
• Skin biopsy: A small portion of skin is removed and tested to examine the collagen it contains.

Treatment at UVA's Heart and Vascular Center

Treatment varies greatly depending on specific symptoms and the type of Ehlers-Danlos syndrome a patient has.