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Ehlers-Danlos syndrome
By Mayo Clinic staffMayo Clinic Health Manager
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Definition
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. With EDS, genetic mutations disrupt the production of collagen, a chief component of connective tissue.
Ehlers-Danlos syndrome is uncommon and occurs in six major types. All types affect your joints, and most also affect your skin. Some of the more prominent symptoms of Ehlers-Danlos syndrome include flexible joints that extend beyond the normal range of movement, and skin that's especially stretchy or fragile.
You may have normal yet very flexible joints, or "double joints." This isn't the same as Ehlers-Danlos syndrome.
Treatment of Ehlers-Danlos syndrome usually focuses on managing the signs and symptoms of the particular type that you have.
Symptoms
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Loose joints associated with Ehlers-Danlos syndrome |
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Elastic skin associated with Ehlers-Danlos syndrome |
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Shin affected by Ehlers-Danlos syndrome |
The severity of signs and symptoms of Ehlers-Danlos syndrome can vary widely. Some people may experience greater difficulty than others do. In general, signs and symptoms include:
- Skin that's especially stretchy or fragile
- Hernias
- Abnormal wound healing, scars that stretch over time
- Flexible joints that extend beyond the normal range of movement
- Dislocations of your shoulder, knee, fingers, hip, wrist and collarbone
- Muscle weakness
- Delayed motor development
- Easy bruising
- Heart problems, such as mitral valve prolapse, aortic root dilatation and spontaneous rupture of large arteries
- Family history of ruptured uterus, colon or brain aneurysm
Ehlers-Danlos syndrome is divided into six major groups, based on specific diagnostic criteria:
Hypermobility type (formerly type III)
This is the most common form. It may affect as many as one in 10,000 to 15,000 people. Signs and symptoms include:
- Loose, unstable joints
- Soft, velvety skin
- Chronic degenerative joint disease
- Advanced premature osteoarthritis with chronic pain
- Heart valve problems (mitral valve prolapse)
Classical type (formerly types I and II)
This type probably affects about one in 20,000 to 40,000 people. Signs and symptoms include:
- Loose joints, which are prone to dislocation and may delay the development of large-motor skills, especially when a child starts to walk
- Highly elastic, velvety skin
- Fragile skin that bruises or tears easily
- Slow and poor wound healing leading to wide scarring
- Noncancerous fibrous growths on pressure areas, such as elbows and knees; fatty growths on the shins and forearms
- Hernias
- Heart valve problems (mitral valve prolapse)
Vascular type (formerly type IV)
This is one of the most serious forms of EDS. It affects an estimated one in 250,000 people. Signs and symptoms include:
- Fragile blood vessels and organs that are prone to tearing (rupture), causing complications such as a ruptured or dissected artery or an aneurysm, ruptured intestines or a ruptured uterus during pregnancy
- Thin, fragile skin that bruises easily
- Veins visible beneath the skin
- Characteristic facial appearance, including protruding eyes, thin nose and lips, sunken cheeks and small chin
- Loose joints, usually limited to the fingers and toes
Kyphoscoliosis type
This uncommon form has few cases reported worldwide. Signs and symptoms include:
- Progressive curvature of the spine (kyphoscoliosis) with respiratory problems, if severe
- Fragile eyes that are easily damaged or ruptured
- Muscle weakness
- Increased risk of rupture of medium-sized arteries
Arthrochalasis type
Arthrochalasis is rare. Only about 30 cases have been reported worldwide. Signs and symptoms include:
- Very loose joints and dislocation of both hips, present at birth
- Stretchy, fragile skin that's prone to bruising and scarring
- Early-onset arthritis
- Increased risk of bone loss and fracture
Dermatosparaxis type
This form is also rare, with only about a dozen cases reported worldwide. Signs and symptoms include:
- Extremely fragile and sagging skin
- Loose joints, which may delay development of motor skills in children
- Short stature
- Delayed closure of the fontanels, the soft areas at the top of a baby's head
- Characteristic facial appearance with swollen eyelids and a bluish tinge to the whites of the eyes
- Umbilical hernia
- Short fingers
Other types
There are other rare types of EDS. Some of these are so rare that they've only been described in a few families. In addition, the relationship of some of these types to the syndrome as a whole isn't well-defined.
Causes
The subtypes of Ehlers-Danlos syndrome are caused by a variety of genetic alterations (mutations) 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, which are passed on from parent to child, alter normal enzyme activity, leaving connective tissues weak and unstable.
Variety of inheritance patterns
Most EDS types are passed along in an inheritance pattern called autosomal dominant. This means you only need one copy of the disease-causing mutation, inherited from either parent, to develop signs and symptoms of the disease. If you inherit the mutation, there's a 50 percent chance that you'll pass the gene on to each of your children.
Two EDS types — kyphoscoliosis and dermatosparaxis — are passed along in an inheritance patter called autosomal recessive. This means you need two copies of the mutated gene to develop the disease. If you inherit only one copy, you're considered a "carrier" of the disorder, but you likely won't develop signs or symptoms.
The following table details the ways in which different EDS types are inherited and the genetic mutations each one is associated with.
| EDS type | Manner of inheritance | Genetic association |
|---|---|---|
| Hypermobility | Autosomal dominant | Mostly unknown; a few have a mutation in the tenascin-X gene |
| Classical | Autosomal dominant and autosomal recessive subtypes | About 50 percent have a mutation in the COL5A1 or COL5A2 gene |
| Vascular | Autosomal dominant | Mutations in the COL3A1 gene |
| Kyphoscoliosis | Autosomal recessive | Deficient activity of the enzyme lysyl hydroxylase 1, which is encoded by the PLOD1 gene |
| Arthrochalasis | Autosomal dominant | Mutations in the COL1A1 or COL1A2 gene |
| Dermatosparaxis | Autosomal recessive | Deficient activity of the enzyme procollagen N-proteinase |
When to seek medical advice
If you or your child has signs or symptoms of Ehlers-Danlos syndrome, make an appointment to talk with your doctor.
If you're concerned about a family history of EDS, you may wish to consult your doctor or a genetic counselor for help in assessing your risk or in planning a family.
Tests and diagnosis
To diagnose Ehlers-Danlos syndrome, your doctor will likely begin with a complete physical examination and a careful recording of your medical and family histories. Extremely loose joints, fragile skin and a family history of EDS may lead to a diagnosis. Your doctor may also order the following tests:
- Genetic tests. DNA testing is available for classical type EDS, vascular type EDS, kyphoscoliosis type EDS and arthrochalasis type EDS. Prenatal DNA testing and preimplantation genetic diagnosis, a method that tests embryos obtained by in vitro fertilization, may be available for families in which the disease-causing mutation has been identified.
- Urine test. A urine test is available to help identify kyphoscoliosis type. The test measures the levels of an enzyme produced by the gene associated with kyphoscoliosis type. Abnormal levels of the enzyme typically indicate this form of EDS.
- Skin biopsy. In this test, a small sample of your skin is removed and examined under a microscope. Such a test may reveal abnormalities in the skin's collagen fibers. Vascular type EDS can be diagnosed by analyzing collagen produced by skin cells.
- Heart ultrasound. To check for mitral valve prolapse, a heart condition that can occur with the classical and hypermobility EDS subtypes, your doctor may recommend a heart ultrasound (echocardiogram). A heart ultrasound provides real-time images of your heart in motion. It can help identify abnormalities in the heart muscle and valves, and find any fluid that may surround the heart.
Complications
Most people with Ehlers-Danlos syndrome live a relatively normal life, although there may be restrictions to physical activity. EDS doesn't affect your intelligence.
Signs and symptoms of EDS vary widely in severity, ranging from mild to severe. Complications often depend on your individual situation, but some common ones include:
- Prominent scarring
- Difficulty with surgical wounds — stitches may tear out, or healing may be incomplete
- Chronic joint pain
- Joint dislocation
- Early-onset arthritis
- Premature aging with sun exposure
People with vascular type EDS are at risk of serious complications, including rupture of major blood vessels or organs, such as the intestines or uterus. These complications can be fatal. About one in four 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.
Having kyphoscoliosis type places you at increased risk of eye problems. You may need to be monitored by an eye specialist, ideally one who has experience with EDS complications.
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're pregnant and have EDS, there's a risk of premature delivery. If your baby has EDS, there's a risk of premature rupture of the membranes surrounding the baby. In either case, there's also a risk of excessive bleeding.
Your doctor will probably 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, such as bleeding or organ rupture.
Treatments and drugs
There's no way to reverse the genetic alterations that cause Ehlers-Danlos syndrome. Treatment focuses primarily on managing individual signs and symptoms and preventing further complications. Much of this consists of self-care strategies to protect your joints and prevent excessive bruising and injuries. Your health care team may include specialists from a variety of different fields, including medical genetics, surgery, pediatrics, orthopedics, cardiology and ophthalmology, to name a few.
Surgical considerations
If you're to undergo surgery, make sure your surgeon knows you have Ehlers-Danlos syndrome. Your surgeon may use adhesive tape or medical glue rather than stitches to close up incisions, because stitches may tear out of fragile skin. Surgery is sometimes required to repair joints damaged by repeated dislocations. Elective surgery isn't recommended.
Managing pain
If you have chronic joint pain, talk to your doctor about ways to help manage the pain. This might include use of pain relievers or physical therapy or both. A physical therapist can help you develop an exercise program to strengthen your muscles, which in turn will help stabilize your joints. In general, people with EDS need to avoid activities that put pressure on locked joints, such as weightlifting. Your therapist or doctor can prescribe appropriate exercises for you.
Although a few reports indicate that vitamin C may help reduce the severity of kyphoscoliosis symptoms, this hasn't been established. Talk to your doctor if you're thinking about taking a vitamin C supplement.
Prevention
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
Preventing injuries and protecting your skin and joints are a big part of self-care for Ehlers-Danlos syndrome. Here are a few suggestions:
- Avoid injury. Avoid contact sports and other activities that increase your risk of injury.
- Use protective gear. If you have a toddler or young child with severe EDS, you might consider dressing him or her with protective clothing, guards or padding to protect from tumbles and falls, especially while he or she is learning to walk and move around.
- 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 assistive devices. A number of common devices can help decrease stress on your joints, such as jar openers, utensils with wide handles, and long-handled combs or bath sponges.
- Wear sunscreen. Regular use of sunscreen when you're exposed to the sun may help reduce premature aging of your skin.
Coping and support
Coping with a lifelong illness is rarely easy. Depending on the severity of your symptoms, you may face challenges at home, work and in your relationships with others.
Here are some suggestions that may help you cope with the challenges of Ehlers-Danlos syndrome:
- Increase your knowledge. Being knowledgeable of EDS is an important step in taking control of your condition. Find a doctor who's experienced in the management of EDS and learn as much as you can about the type of EDS you have.
- Tell others. Explain your condition to family members, friends and to your employer. Ask your employer if he or she can make any accommodations that you feel will make you a more productive worker. It's up to you how much information you divulge to your co-workers. You may want to prepare an appropriate response for people who ask questions.
- Build support. Having a strong support network can help. Build up relationships with family and friends who are positive and caring. It may also help to talk to an unrelated third party, such as a medical social worker, counselor or clergy member. Some people find help by joining a support group for people with EDS or people with chronic illnesses. The Ehlers-Danlos National Foundation's Web site has information on local and regional support groups.
Helping your child cope
Family members can play critical roles in helping a child cope with Ehlers-Danlos syndrome. As a parent, you may want to try the following:
- Maintain normalcy. Treat your child, as much as possible, like other normal children. Ask others — grandparents, aunts, uncles — 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. Parents of children with EDS have sometimes encountered suspicions of child abuse because of frequent bruises and cuts. Make sure your child's teachers and other caregivers know about your child's condition. Review with them appropriate caregiving skills, particularly in situations such as a fall or injury.
- Promote activity. Encourage your child to participate in physical activities, keeping in mind the recommendations of your child's doctor and physical therapist.
- Find the best routine. Work with your child's teachers and school administrators to make any necessary modifications in his or her schedule or responsibilities. These modifications may include giving your child extra time to move from class to class, providing him or her with an extra set of textbooks so that these books won't need to be carried home, and making arrangements for assignments to be sent home when your child misses school because of his or her condition.
Most people with Ehlers-Danlos syndrome are able to live a productive and fulfilling life, even with the limitations imposed by having EDS.
