What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome is a group of conditions that affect the connective tissues in the body. These tissues include cartilage, bone, fat and blood. They support organs and other tissues throughout the body.

Doctors classify Ehlers-Danlos syndrome into 13 types based on their most notable features and the parts of the body where symptoms appear. People with the most common type have symptoms including very loose joints and fragile skin that tears easily.

Ehlers-Danlos syndrome can be genetic, meaning it is passed down through family members. An estimated 1 in 5,000-20,000 people have the most common type of Ehlers-Danlos syndrome.

What are the symptoms of Ehlers-Danlos syndrome?

Each type of Ehlers-Danlos syndrome has its own symptoms. The most common type of the condition is Ehlers-Danlos hypermobility, or hypermobile EDS. Its symptoms include:

• Hypermobile (overly flexible) joints
• Unstable joints
• Soft skin that is thinner and stretches more than normal
• Excessive bruising

What causes Ehlers-Danlos syndrome?

A defect in collagen (proteins that add flexibility and strength to connective tissue) causes Ehlers-Danlos syndrome. People with the disorder have a faulty gene that leads to weak collagen or not enough normal collagen in their tissues. These defects can harm the connective tissue’s ability to support muscles, organs, and other tissues.

How do doctors diagnose Ehlers-Danlos syndrome?

Doctors use your family history and several tests to diagnose Ehlers-Danlos syndrome. Your diagnosis may involve:

• Genetic testing: The most common way to identify the condition is to look for a faulty gene.
• Biopsy: In some cases, a doctor will use a test called a biopsy. In this test, the doctor removes a sample of skin and examines it under a microscope to look for signs of the condition, such as specific genes and gene mutations (abnormalities).
• Physical exam: During a physical exam, doctors can see how much the skin stretches and how far the joints can move.
• Imaging: Tests that provide images of the inside of the body can help doctors identify abnormalities including heart function problems and curved bones. These tests include X-rays and computerized tomography (CT) scans.

What are the common treatments for Ehlers-Danlos syndrome?

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. For this reason, doctors recommend they avoid:

• Strenuous (heavy) lifting
• High-impact exercise where the body pounds the ground
• Contact sports

Can Ehlers-Danlos syndrome be prevented?

Because it is genetic, you cannot prevent Ehlers-Danlos syndrome.

What is the outlook for people with Ehlers-Danlos syndrome?

The outlook for people with Ehlers-Danlos syndrome depends on the type of the condition and the individual’s symptoms. Most forms of the condition do not affect life expectancy.

What are common complications or side effects of Ehlers-Danlos syndrome?

The complications of some types of Ehlers-Danlos syndrome can be life-threatening. Some types, including vascular Ehlers-Danlos syndrome, can cause blood vessels to rupture (tear). When this happens, it can lead to dangerous internal bleeding and stroke.

People with these types of Ehlers-Danlos syndrome also have a higher risk of organ rupture. Most commonly, the intestines or a pregnant woman's uterus may tear.

The complications of other kinds of Ehlers-Danlos syndrome depend on the type. These complications can include:

• Problems with the valves that push blood through the heart
• Severe spine curvature
• Thinning of corneas in the eyes
• Bowed (curved) limbs
• Defects of the teeth and gums

How can people best live with Ehlers-Danlos syndrome?

Doctors can help you manage symptoms with physical therapy and, if needed, pain management. Monitoring Ehlers-Danlos syndrome through regular doctor visits is the best way to ensure the condition does not stand in the way of enjoying a healthy life.