Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked by extremely loose joints, very stretchy ( hyperelastic ) skin that bruises easily, and easily damaged blood vessels.

Causes

There are six major types and at least five minor types of Ehlers-Danlos syndrome.

A variety of gene changes (mutations) cause problems with collagen. This is the material that provides strength and structure to:

• Skin
• Bone
• Blood vessels
• Internal organs

The abnormal collagen leads to the symptoms associated with EDS. In some forms of the syndrome, the rupture of internal organs or abnormal heart valves can occur.

Family history is a risk factor in some cases.

Symptoms

Symptoms of EDS include:

• Back pain
• Double-jointedness
• Easily damaged, bruised, and stretchy skin
• Easy scarring and poor wound healing
• Flat feet
• Increased joint mobility, joints popping, early arthritis
• Joint dislocation

  Joint dislocation

  A dislocation is a separation of 2 bones where they meet at a joint. Joints are areas where 2 bones come together. A dislocated joint is a joint whe...

   

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• Joint pain
• Premature rupture of membranes during pregnancy
• Very soft and velvety skin
• Vision problems

Exams and Tests

Examination by a health care provider may show:

• Deformed surface of the eye (cornea)
• Excess joint looseness and joint hypermobility

  Joint hypermobility

  Hypermobile joints are joints that move beyond the normal range with little effort. Joints most commonly affected are the elbows, wrists, fingers, a...

   

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• Mitral valve in the heart does not close tightly ( mitral valve prolapse )

  Mitral valve prolapse

  Mitral valve prolapse is a heart problem involving the mitral valve, which separates the upper and lower chambers of the left side of the heart. In ...

   

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• Gum infection ( periodontitis )

  Periodontitis

  Periodontitis is inflammation and infection of the ligaments and bones that support the teeth.

   

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• Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
• Soft, thin, or very stretchy skin

Tests to diagnose EDS include:

• Collagen typing (performed on a skin biopsy sample)
• Collagen gene mutation testing
• Echocardiogram (heart ultrasound)

  Echocardiogram

  An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...

   

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• Lysyl hydroxylase or oxidase activity (to check collagen formation)

Treatment

There is no specific cure for Ehlers-Danlos syndrome. Individual problems and symptoms are evaluated and cared for appropriately. Physical therapy or evaluation by a doctor specializing in rehabilitation medicine is often needed.

Outlook (Prognosis)

People with EDS generally have a normal life span. Intelligence is normal.

Those with the rare vascular type of EDS are at greater risk of rupture of a major organ or blood vessel. These people have a high risk of sudden death.

Possible Complications

Possible complications of Ehlers-Danlos syndrome include:

• Chronic joint pain
• Early-onset arthritis
• Failure of surgical wounds to close (or stitches tear out)
• Premature rupture of membranes during pregnancy
• Rupture of major vessels, including a ruptured aortic aneurysm (only in vascular EDS)

  Ruptured aortic aneurysm

  The aorta is the main blood vessel that supplies blood to the abdomen, pelvis, and legs. An abdominal aortic aneurysm occurs when an area of the aor...

   

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• Rupture of a hollow organ such as the uterus or bowel (only in vascular EDS)
• Rupture of the eyeball

When to Contact a Medical Professional

Call for an appointment with your provider if you have a family history of Ehlers-Danlos syndrome and you are concerned about your risk or are planning to start a family.

Call for an appointment with your provider if you or your child has symptoms of EDS.

Prevention

Genetic counseling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome. Those planning to start a family should be aware of the type of EDS they have and its mode of how it is passed down to children. This can be determined through testing and evaluations suggested by your provider or genetic counselor.

Identifying any significant health risks may help prevent severe complications by vigilant screening and lifestyle alterations.