Ehlers-Danlos syndrome

Causes

There are six major types of Ehlers-Danlos syndrome (EDS). A variety of different gene problems cause problems with collagen, the material that provides strength and structure to skin and bone tissue, blood vessels, and internal organs. (The syndrome sometimes involves rupture of internal organs.)

Family history is a risk factor in some cases.

Symptoms

Joint dislocation
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
Vision problems

Exams and Tests

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

Tests:

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

Treatment

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.

Outlook (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.

Possible 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

When to Contact a Medical Professional

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

Call for an appointment with your health care provider if you or your child has 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.

For those who have significant risks to their health, identification of risk may help prevent severe complications by vigilant screening and lifestyle alterations.

Review Date: 12/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.
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