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Ehlers-Danlos syndrome

Contents of this page:

Definition    Return to top

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

Causes    Return to top

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

A variety of gene mutations (changes) cause problems with collagen, the material that provides strength and structure to skin, bone, blood vessels, and internal organs.

The abnormal collagen leads to the symptoms associated with EDS. In some forms of the condition this can include rupture of internal organs or abnormal heart valves.

Family history is a risk factor in some cases.

Symptoms    Return to top

Symptoms of EDS include:

Exams and Tests    Return to top

Examination by the health care provider may show:

Tests performed to diagnose EDS include:

Treatment    Return to top

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

Outlook (Prognosis)    Return to top

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

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

Possible Complications    Return to top

Possible complications of Ehlers-Danlos syndrome include:

When to Contact a Medical Professional    Return to top

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 start a family.

Call for an appointment with your health care provider if you or your child have symptoms of EDS.

Prevention    Return to top

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 inheritance (how it is passed down to children). This can be determined through testing and evaluation suggested by your health care provider or genetic counselor.

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

References    Return to top

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 281.

Update Date: 12/3/2008

Updated by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School, Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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