Ehlers-Danlos Syndrome

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a condition that affects the connective tissues in your body.

Connective tissues support your organs and hold parts of your body in place. They’re made of two proteins: collagen and elastin. EDS affects your body’s ability to produce collagen the way it should. People with EDS have weaker collagen. This means their connective tissue isn’t as strong or supportive as it should be.

Ehlers-Danlos syndrome can affect any connective tissue in your body, including your:

• Cartilage.
• Bones.
• Blood.
• Fat.

Depending on where EDS affects your connective tissue, you might experience symptoms in your:

• Skin.
• Joints.
• Muscles.
• Blood vessels.

Ehlers-Danlos syndrome is a genetic disorder. Talk to a healthcare provider about testing for EDS if someone in your biological family has it (an immediate relative like a biological parent, grandparent or sibling).

Types of Ehlers-Danlos syndrome

Healthcare providers classify Ehlers-Danlos syndrome into 13 types based on where it affects you and the symptoms it causes.

The most common types cause symptoms like loose or unstable joints and fragile skin that tears easily. Some rare types of Ehlers-Danlos syndrome can cause fatal complications — especially vascular Ehlers-Danlos syndrome (EDS that affects your blood vessels).

Your provider will tell you which type of EDS you have and which treatments you’ll need to manage your symptoms.

How common is Ehlers-Danlos syndrome?

Experts estimate that 1 in 5,000 people has Ehlers-Danlos syndrome.

What are Ehlers-Danlos syndrome symptoms?

Each type of Ehlers-Danlos syndrome has its own symptoms, but the most common EDS symptoms include:

• Overly flexible (hypermobile) joints — it might feel like your joints are loose or unstable.
• Soft skin that’s thinner and stretches more than it should.
• Bruising easily or more often than usual.
• Unusual scarring or taking unusually long to heal after a cut or small wound.
• Joint and muscle pain.
• Fatigue (feeling tired all the time).
• Difficulty concentrating.

What causes Ehlers-Danlos syndrome?

A genetic mutation causes Ehlers-Danlos syndrome. Genetic mutations are changes to your DNA sequence that happen during cell division when your cells make copies of themselves. If part of your DNA sequence is in the wrong place, isn’t complete or is damaged, you might experience symptoms of a genetic condition.

Even though we know it’s caused by a genetic mutation, healthcare providers can’t always identify the exact mutation that causes Ehlers-Danlos syndrome in someone.

Experts have identified more than 20 different genetic mutations that can cause Ehlers-Danlos syndrome. They all affect your body’s ability to produce collagen. Which specific mutation you have determines which parts of your body are affected.

Ehlers-Danlos syndrome risk factors

Some types of Ehlers-Danlos syndrome are inheritable. This means biological parents can pass the mutations to their children. Other types happen somatically — they happen randomly and can’t be passed through generations of a family.

You may have an increased risk of EDS if one or both of your biological parents have it. Similarly, if you have EDS, you might pass the mutation that caused it to your biological children.

Talk to a healthcare provider about your risk of inheriting or passing on Ehlers-Danlos syndrome in your biological family. Your provider might suggest genetic counseling. Genetic counselors can help you determine your risk for developing or passing on certain conditions.

What are complications of Ehlers-Danlos syndrome?

Dislocations are the most common complication of Ehlers-Danlos syndrome. A dislocation is the medical term for bones in one of your joints being pushed out of their usual place. Never try to push a joint back into place on your own if you think you have a dislocation. Go to the emergency room (ER) right away. You may need surgery to repair a dislocation.

Some types of Ehlers-Danlos syndrome can cause life-threatening complications. Vascular Ehlers-Danlos syndrome can cause blood vessels to rupture (tear). This can lead to dangerous internal bleeding and stroke.

People with these types of Ehlers-Danlos syndrome also have a higher risk of organ rupture. The most common types of organ rupture are intestines and a pregnant woman’s uterus.

Your risk of complications depends on which type of EDS you have. Complications can include:

• Problems with the valves that push blood through your heart.
• Severe spine curvature (scoliosis).
• Thin corneas in your eyes.
• Bowed (curved) limbs.
• Teeth and gum problems.

How is Ehlers-Danlos syndrome diagnosed?

A healthcare provider will diagnose Ehlers-Danlos syndrome with a physical exam and by discussing your medical history. They’ll examine your skin and joints and ask you about your symptoms. Tell your provider when you first noticed symptoms or if any activities make them worse.

Most people with Ehlers-Danlos syndrome don’t have a known genetic mutation, so providers usually diagnose it based on your symptoms and medical history.

How is Ehlers-Danlos syndrome treated?

Your healthcare provider will suggest treatments for Ehlers-Danlos syndrome that help you manage your symptoms and prevent dangerous complications. Which treatments will work for you depends on which type of EDS you have and how your connective tissue is affected.

Some common Ehlers-Danlos syndrome treatments include:

• Wearing sunscreen and using mild soaps to protect your skin.
• Physical therapy to strengthen the muscles around your joints.
• Wearing braces for extra joint support.

People with Ehlers-Danlos have an increased risk of dislocated joints and other joint injuries. Your provider might suggest you avoid:

• Strenuous (heavy) lifting.
• High-impact exercise.
• Contact sports.

Can Ehlers-Danlos syndrome be prevented?

No, you can’t prevent Ehlers-Danlos syndrome. Because you can’t control the genetic mutations that cause it, there’s no way to prevent EDS. Talk to your healthcare provider about genetic counseling if you’re worried about passing EDS (or any other genetic condition) on to your biological children.

What can I expect if I have Ehlers-Danlos syndrome?

You should expect to manage Ehlers-Danlos syndrome symptoms for the rest of your life. There’s no cure for EDS. But you should be able to participate in all your normal activities once you learn how to manage your symptoms. You might have to avoid some forms of intense physical activity (like contact sports).

Ehlers-Danlos syndrome affects everyone differently. What you experience depends on which type of EDS you have and the severity of your symptoms. Ask your provider what to expect based on your unique situation.

What is the life expectancy of someone with Ehlers-Danlos syndrome?

Most types of Ehlers-Danlos syndrome don’t affect or lower your life expectancy.

If you have EDS that affects your blood vessels (vascular Ehlers-Danlos syndrome), you might have an increased risk of experiencing a stroke or other fatal vascular issues.

Even if you have vascular Ehlers-Danlos syndrome, your healthcare provider will help you find a combination of treatments and lifestyle changes that help you lead a safe, healthy life. Talk to your provider about what to expect and which signs or symptoms of dangerous complications you should watch for.

How do I take care of myself?

Monitor your symptoms and visit a healthcare provider if you notice any changes. Your provider will tell you how often you need regular visits in the future to track any changes in your body. They’ll help you change your treatments as needed.

Avoid playing high-impact sports. Intense physical activity like contact sports increases your risk of a joint injury (especially dislocations).

When should I see my healthcare provider?

Visit a healthcare provider if you notice any changes in your body that make your skin or joints feel weaker or loose. See a provider if you notice that you’re bruising or bleeding more often than you used to.

When should I go to the ER?

Got to the emergency room or call 911 (or your local emergency number) if you or someone with you has symptoms of a stroke.

To recognize the warning signs of a stroke, remember to think, BE FAST:

• Be watchful for a sudden loss of balance.
• Look out for sudden loss of vision in one or both eyes. Are they experiencing double vision?
• Ask the person to smile. Look for a droop on one or both sides of their face, which is a sign of muscle weakness or paralysis.
• A person having a stroke often has muscle weakness on one side. Ask them to raise their arms. If they have one-sided weakness (and didn’t have it before), one arm will stay higher while the other will sag and drop downward.
• Strokes often cause a person to lose their ability to speak. They might slur their speech or have trouble choosing the right words.
• Time is critical, so don’t wait to get help! If possible, look at your watch or a clock and remember when symptoms start. Telling a healthcare provider when symptoms started can help the provider know what treatment options are best for you.

What questions should I ask my healthcare provider?

• Do I have Ehlers-Danlos syndrome or another condition?
• Which type of EDS do I have?
• Which treatments will I need?
• Which symptoms or changes should I watch out for?
• How often will I need follow-up visits?
• Should I consider genetic counseling if I want to have biological children?