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 provides 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. If you have vascular Ehlers-Danlos syndrome, you may want to talk to a genetic counselor before starting a family.
Signs and symptoms of the most common form of Ehlers-Danlos syndrome include:
Symptom severity can vary from person to person. Some people with Ehlers-Danlos syndrome will have overly flexible joints but few or none of the skin symptoms.
Vascular Ehlers-Danlos syndrome
One of the most severe forms of the disorder, vascular Ehlers-Danlos syndrome can weaken your heart's largest artery (aorta), as well as the arteries to your kidneys and spleen. A rupture of any of these blood vessels can be fatal. The vascular subtype also can weaken the walls of the uterus or large intestines — which may also rupture.
Loose joints associated with Ehlers-Danlos syndrome
A classic characteristic of Ehlers-Danlos syndrome is extremely loose joints. ...
Elastic skin associated with Ehlers-Danlos syndrome
People with Ehlers-Danlos syndrome often have very stretchy skin, more so than normal. ...
Shin affected by Ehlers-Danlos syndrome
Ehlers-Danlos syndrome can lead to very fragile skin that scars easily. ...
Different subtypes 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 some subtypes of Ehlers-Danlos syndrome, such as the vascular variety, there's a 50 percent chance that you'll pass the gene on 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 these risks.
Preparing for your appointment
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
What to expect from your doctor
Tests and diagnosis
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 some cases and help rule out other problems.
Treatments and drugs
There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent further complications.
Surgical and other procedures
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.
Lifestyle and home remedies
If you have Ehlers-Danlos syndrome, it's important to prevent injuries and protect your skin and joints. Here are a few things you can do to safeguard yourself.
Coping and support
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:
Helping your child cope
Last Updated: 2012-09-20
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