Ehlers-Danlos syndrome

Definition

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

Causes

There are 6 major types and at least 5 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:

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:

Exams and Tests

Examination by a health care provider may show:

Tests to diagnose EDS include:

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:

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 start a family.

Call for an appointment with your health care 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 health care provider or genetic counselor.

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


Review Date: 12/7/2014
Reviewed By: Jatin M. Vyas, MD, PhD, Associate Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital, Boston, MA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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