Ehlers Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a disease that weakens the connective tissues of your body. These are things like tendons and ligaments that hold parts of your body together.

Causes of Ehlers Danlos Syndrome #

• EDS happens when your body doesn’t make a protein called collagen in the right way.

• Collagen helps form the connections that hold your body’s bones, skin, and organs together.

• If there’s a problem with it, those structures can be weak and more likely to have problems.

• EDS is a genetic disorder.That means it’s something you get from your parents.

• If one of your parents has this condition, you’re likely to have it, too.

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

Diagnosis of Ehlers Danlos Syndrome #

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.

Treatment of 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