Ehlers-Danlos syndrome

Learn about these complex genetic disorders that cause problems with connective tissue in the skin, joints and blood vessel walls.

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn't strong enough to hold them.

A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. Because vascular Ehlers-Danlos syndrome can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family.

There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:

• Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Joint pain and dislocations are common.
• Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.
• Fragile skin. Damaged skin often doesn't heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.

Symptom severity can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome that you have. The most common type is called hypermobile Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome

People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Vascular Ehlers-Danlos syndrome can weaken your heart's largest artery (aorta), as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or large intestines — which also may rupture.

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there's a 50% chance that you'll pass on the gene to each of your children.

Complications depend on the types of signs and symptoms you have. For example, overly flexible joints can result in joint dislocations and early-onset arthritis. Fragile skin may develop prominent scarring.

People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, also may rupture. Pregnancy can increase the risk of a rupture in the uterus.

If you have a personal or family history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses for your children.

Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available.

There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent further complications.

Medications

Your doctor may prescribe drugs to help you control:

• Pain. Over-the-counter pain relievers — such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) — are the mainstay of treatment. Stronger medications are only prescribed for acute injuries.
• Blood pressure. Because blood vessels are more fragile in some types of Ehlers-Danlos syndrome, your doctor may want to reduce the stress on the vessels by keeping your blood pressure low.

Physical therapy

Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen the muscles and stabilize joints are the primary treatment for Ehlers-Danlos syndrome. Your physical therapist might also recommend specific braces to help prevent joint dislocations.

Surgical and other procedures

Surgery may be recommended to repair joints damaged by repeated dislocations, or to repair ruptured areas in blood vessels and organs. However, the surgical wounds may not heal properly because the stitches may tear through the fragile tissues.

If you have Ehlers-Danlos syndrome, it's important to prevent injuries. Here are a few things you can do to safeguard yourself.

• Choose sports wisely. Walking, swimming, tai chi, recreational biking, or using an elliptical machine or a stationary bike are all good choices. Avoid contact sports, weightlifting and other activities that increase your risk of injury. Minimize stress on your hips, knees and ankles.
• Rest your jaw. To protect your jaw joint, avoid chewing gum, hard rolls and ice. Take breaks during dental work to close your mouth.
• Wear supportive shoes. To help prevent ankle sprains, wear laced boots with good arch support.
• Improve sleep. Body pillows and super-dense foam mattresses can provide support and cushioning for painful joints. Sleeping on your side may also help.

Coping with a lifelong illness is challenging. Depending on the severity of your symptoms, you may face challenges at home, at work and in your relationships with others. Here are some suggestions that may help you cope:

• Increase your knowledge. Knowing more about Ehlers-Danlos syndrome can help you take control of your condition. Find a doctor who's experienced in the management of this disorder.
• Tell others. Explain your condition to family members, friends and your employer. Ask your employer about any accommodations that you feel will make you a more productive worker.
• Build a support system. Cultivate relationships with family and friends who are positive and caring. It also may help to talk to a counselor or clergy member. Support groups, either online or in person, help people share common experiences and potential solutions to problems.

Helping your child cope

If you are a parent of a child with Ehlers-Danlos syndrome, consider these suggestions to help your child:

• Maintain normalcy. Treat your child like other children. Ask others — grandparents, aunts, uncles, teachers — to do the same.
• Be open. Allow your child to express his or her feelings about having Ehlers-Danlos syndrome, even if it means being angry at times. Make sure your child's teachers and other caregivers know about your child's condition. Review with them appropriate caregiving skills, particularly in the event of a fall or injury.
• Promote safe activity. Encourage your child to participate in physical activities with appropriate boundaries. Discourage contact sports while encouraging non-weight-bearing activities, such as swimming. Your child's doctor or physical therapist also may have recommendations.

You might first bring your concerns to the attention of your family doctor, but he or she may refer you to a doctor who specializes in genetic diseases.

What you can do

Before your appointment, you may want to write a list of answers to the following questions:

• What types of symptoms are you experiencing?
• Have your parents, grandparents or siblings had similar symptoms?
• Has any blood relative died of a ruptured blood vessel or organ?
• What medications and supplements do you take regularly?

What to expect from your doctor

Your doctor may ask some of the following questions:

• Are any of your joints overly flexible?
• Is your skin extra stretchy?
• Does your skin heal poorly after injuries?

Last Updated:

October 16th, 2020