Ehlers-Danlos syndrome

Definition
Ehlers-Danos syndrome is a group of inherited disorders characterized by excessive looseness (laxity) of the joints, hyperelastic skin that is fragile and bruises easily, and/or easily damaged blood vessels. The syndrome sometimes involves rupture of internal organs.

Causes, incidence, and risk factors

Ehlers-Danlos syndrome (EDS) can occur in different forms—involving vessels, skin, and/or joints—with a variety of different genetic defects as their cause.

Different forms of EDS have different modes of inheritance. Family history is a risk factor in some cases.

Symptoms

• Joint dislocation or subluxation
  
• Joint pain
  
• Increased joint mobility, joints popping, early arthritis
  
• Double-jointedness, flat feet
  
• Easily damaged, bruised, and stretchy skin
  
• Very soft and velvety skin
  
• Easy scarring and poor wound healing
  
• Premature rupture of membranes at birth
  
• Visual difficulties

Examination by the health care provider may show:

• Excess joint laxity and joint hypermobility
  
• Soft, thin, or hyperextensible skin
  
• Mitral valve prolapse
  
• Periodontitis
  
• Signs of platelet aggregation failure (platelets do not clump together properly)
  
• Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
  
• Deformed cornea

• Collagen typing (performed on a skin biopsy sample)
  
• Collagen gene mutation testing
  
• Lysyl hydroxylase or oxidase activity
  
• Echocardiogram (heart ultrasound)

There is no specific cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for appropriately. Frequently, physical therapy or evaluation by a physician specializing in rehabilitation medicine is needed.

Support Groups

Ehlers-Danlos National Foundation
6399 Wilshire Blvd. Suite 200
Los Angeles, CA 90048
http://www.ednf.org

Expectations (prognosis)

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

Patients with the rare vascular type of EDS are at significantly increased risk for rupture of a major organ or blood vessel. These patients therefore have a high risk of sudden death.

Complications

• Failure of surgical wounds to close (or stitches tear out)
  
• Chronic joint pain
  
• Early-onset arthritis
  
• Rupture of major vessels, including a ruptured aortic Aneurysm (only in vascular EDS)
  
• Rupture of a hollow organ such as uterus or bowel (only in vascular EDS)
  
• Rupture of the eyeball
  
• Premature rupture of membranes during pregnancy

Call for an appointment with your health care provider if you have a family history of Ehlers-Danlos syndrome and are planning to conceive a child.

Call for an appointment with your health care provider if you or your child have symptoms of Ehlers-Danlos syndrome.

Prevention

Genetic counseling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome. Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance. This may be determined through testing and evaluation suggested by your health care provider or genetic counselor.

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