Diseases & Conditions

Ehlers-Danlos syndrome

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.

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.

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.

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.

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.