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:
- Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Small joints are affected more than large joints. You might also be able to touch the tip of your nose with your tongue.
- 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.
- Fatty lumps at pressure points. These small, harmless growths can occur around the knees or elbows and may show up on X-rays.
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
People who have the vascular subtype of 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.
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.
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.
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?
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.
There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent further complications.
Your doctor may prescribe drugs to help you control:
- Pain. If over-the-counter pain relievers — such as ibuprofen (Advil, Motrin IB, others) and naproxen (Aleve) — aren't enough, your doctor may prescribe stronger medications for your joint or muscle pain.
- 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.
Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen the muscles around a joint can help stabilize the joint. Your physical therapist might also recommend specific braces to help prevent joint dislocations.
Surgical and other procedures
In rare cases, surgery is recommended to repair joints damaged by repeated dislocations. However, your skin and the connective tissue of the affected joint may not heal properly after the surgery.
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.
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.
- Avoid injury. Avoid contact sports, weightlifting and other activities that increase your risk of injury.
- Reduce the clutter. To prevent falls and injuries at home, keep walkways and doorways clear of clutter. Avoid loose rugs and electric cords, which can increase your risk of tripping and falling.
- Use mild soaps and sunscreen. To protect easily damaged skin and to guard against premature aging, use mild soaps and wear sunscreen when you're outside.
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 may also 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. As much as possible, 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 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.
- Team approach. Ehlers-Danlos syndrome affects many different body systems, so it's important to have different specialists involved in your care. At Mayo Clinic, you'll be evaluated by a team of specialists who will work together to ensure you receive the right treatment for your type of Ehlers-Danlos syndrome. The team may include specialists in medical genetics, physical medicine and rehabilitation, orthopedics, dermatology, and neurology — as well as vascular, cardiovascular, neurologic and pediatric surgeons, if necessary.
- Long-term management. Our goal at Mayo Clinic is to establish a long-term management plan for people with Ehlers-Danlos syndrome. Instead of a one-size-fits-all approach, doctors formulate an individualized plan for you, with regularly scheduled follow-up to try to achieve the best long-term outcomes.
Ehlers-Danlos syndrome can be categorized into six major types. Most types affect the joints and skin; the vascular type affects the blood vessels and internal organs. Your type is classified according to your signs and symptoms.
- Skin can stretch beyond normal range (hyperextensibility)
- Widened thin scars
- Joint flexibility (hypermobility)
- Generalized joint hypermobility
- Stretchy skin
- Smooth or velvety skin
- Fragile arteries, intestines or uterus subject to sudden rupturing
- Thin, translucent skin
- Easy bruising
- Characteristic facial features
- Joint looseness
- Severe muscle weakness (hypotonia)
- Curving of the spine (scoliosis)
- Fragile white part (sclera) of eye
- Hip dislocation from birth (congenital)
- Severe joint hypermobility with dislocations
- Severe skin fragility
- Soft, doughy and saggy skin
At Mayo Clinic, we assemble a team of specialists who take the time to listen and thoroughly understand your health issues and concerns. We tailor the care you receive to your personal health care needs. You can trust our specialists to collaborate and offer you the best possible outcomes, safety and service.
Mayo Clinic is a not-for-profit medical institution that reinvests all earnings into improving medical practice, research and education. We're constantly involved in innovation and medical research, finding solutions to improve your care and quality of life. Your doctor or someone on your medical team is likely involved in research related to your condition.
Our patients tell us that the quality of their interactions, our attention to detail and the efficiency of their visits mean health care — and trusted answers — like they've never experienced.
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Diagnosis for the most common form of Ehlers-Danlos syndrome — hypermobility — is based on signs and symptoms, including extremely loose joints and stretchy skin. For other rarer types, doctors may use genetic testing to help clarify the diagnosis. Most genetic testing is done by a blood test; occasionally a skin biopsy may be needed.
Doctors may also order an ultrasound of your heart (echocardiogram) or a CT scan of your heart and major blood vessels to confirm your diagnosis.
Treatment of Ehlers-Danlos syndrome focuses on managing your symptoms and preventing further complications.
- Physical therapy. Some people with Ehlers-Danlos syndrome benefit from strengthening their muscles. A physical or occupational therapist can provide exercises to strengthen your muscles without causing injury.
- Drugs. Treatment may include pain medication for joints and muscles, including nonsteroidal anti-inflammatory drugs, such as ibuprofen (Advil, Motrin, others) or naproxen (Aleve), or topical anesthetics.
- Surgery. In rare cases, doctors may recommend surgery to repair blood vessels or damaged joints. For most people with vascular Ehlers-Danlos syndrome, treatment involves controlling high blood pressure, medications and exercise restrictions. Because blood vessels and other hollow organs are fragile and subject to rupturing in people with vascular Ehlers-Danlos syndrome, doctors recommend surgery only for people with who are in danger of life-threatening bleeding.
- Follow-up. Most people with Ehlers-Danlos syndrome will require regular monitoring. For people who have vascular Ehlers-Danlos syndrome but no symptoms, doctors may recommend an annual physical examination and carotid and abdominal ultrasound. People with known artery problems may receive either computerized tomography angiography or magnetic resonance angiography every six to 12 months.
- Genetic consultation and counseling. People with Ehlers-Danlos syndrome have a 50 percent chance of passing the condition on to each of their children, so a genetic consultation can provide useful information.
Mayo Clinic works with hundreds of insurance companies and is an in-network provider for millions of people. In most cases, Mayo Clinic doesn't require a physician referral. Some insurers require referrals or may have additional requirements for certain medical care. All appointments are prioritized on the basis of medical need.
Specialists in the vascular center care for adults who have an aneurysm due to Ehlers-Danlos syndrome.
For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.
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Specialists in medical genetics at Mayo Clinic in Minnesota coordinate care for children and adults with Ehlers-Danlos syndrome. Specialists in pediatrics and vascular surgery are often involved in care.
For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.
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See information on patient services at the three Mayo Clinic locations, including transportation options and lodging.
See a list of publications by Mayo Clinic doctors about Ehlers-Danlos syndrome on PubMed, a service of the National Library of Medicine.
Sep. 20, 2012
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