Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Ehlers-Danlos syndrome is uncommon.
In Ehlers-Danlos syndrome, genetic mutations disrupt the production of collagen, a chief component of connective tissue. Doctors have identified several types of Ehlers-Danlos syndrome with varying symptoms, but all types affect your joints, and most affect your skin.
Prominent signs and symptoms of Ehlers-Danlos syndrome include stretchy, fragile skin and flexible joints that extend beyond the normal range of movement. It's possible to have very flexible, or "double" joints. This isn't the same as Ehlers-Danlos syndrome.
Complications of Ehlers-Danlos syndrome may limit your physical activities. The syndrome does not affect mental function.
While the severity of symptoms can vary widely, the most common ones are stretchy, fragile skin and extra-flexible joints.
EDS is divided into several types, based on a specific set of symptoms. The most common types are:
Classical type (formerly types I and II) EDS
Hypermobility type (formerly type III) EDS
Vascular type (formerly type IV) EDS
Other types of EDS
Loose joints in Ehlers-Danlos syndrome
A classic characteristic of Ehlers-Danlos syndrome is extremely loose joints. ...
Elastic skin in Ehlers-Danlos syndrome
People with Ehlers-Danlos syndrome often have very stretchy skin, more so than normal. ...
The types of Ehlers-Danlos syndrome are caused by a variety of genetic alterations (mutations), passed on from parent to child, that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues — skin, tendons, ligaments, cartilage, and organ and blood vessel walls.
These genetic mutations alter normal enzyme activity, leaving connective tissues weak and unstable.
Variety of inheritance patterns
Autosomal dominant inheritance pattern
In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You only need one mutated gene to be affected by this type of ...
Most people with Ehlers-Danlos syndrome live a relatively normal life, although there may be restrictions on physical activity. EDS doesn't affect your intelligence. Complications depend on your symptoms and type of EDS, but some common ones include:
People with vascular type EDS are at risk of serious complications because of the fragility of blood vessels and organs. Serious complications of vascular type EDS include tearing (rupture) of major blood vessels, such as a ruptured or dissected artery or an aneurysm, or rupture of organs, such as the intestines or uterus. These complications can be fatal. About 1 in 4 people with vascular type EDS develop a significant health problem by age 20, and more than 80 percent develop complications by age 40. The median age of death is 48 years.
Some people with Ehlers-Danlos syndrome may develop osteoporosis. Osteoporosis is generally treated with prescription medications to increase bone density. Specific physical therapy exercises may help, too.
Pregnancy and EDS
If you have vascular type EDS, pregnancy can be dangerous. The increase in blood volume and cardiac output puts more demand on your fragile blood vessels and organs, and there's a high risk of aortic or uterine rupture, both of which can be fatal.
If you have EDS and want to start a family, talk to your doctor first. Your doctor may suggest monitoring your pregnancy closely for any signs of complications. In some cases, your doctor may advise you against becoming pregnant because of the high risk of complications.
Preparing for your appointment
What you can do
What to expect from your doctor
Tests and diagnosis
Your doctor will likely begin with a complete physical examination and a careful recording of your medical and family histories. Extremely loose joints, fragile or stretchy skin, and a family history of EDS is often enough to make a diagnosis of EDS.
Sometimes, additional tests are ordered to confirm an EDS diagnosis or to determine the type of EDS you have. They include:
Treatments and drugs
There is no cure for EDS, but treatment can help you manage your symptoms and prevent further complications.
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 EDS that affects you and the risks it poses for your children.
Lifestyle and home remedies
If you have EDS, 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 with the challenges of Ehlers-Danlos syndrome:
Helping your child cope
Last Updated: 2010-04-20
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