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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 EDS.

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 EDS. Individual problems and symptoms are evaluated and cared for appropriately. Physical therapy or evaluation by a doctor specializing in rehabilitation medicine is often needed.

Support Groups

These resources can provide more information on EDS:

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 for rupture of a major organ or blood vessel. These people have a high risk for sudden death.

Possible Complications

Possible complications of EDS include:

When to Contact a Medical Professional

Call for an appointment with your provider if you have a family history of EDS 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 EDS. 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.

Related Information

Hyperelastic skin
Abdominal aortic aneurysm

References

Krakow D. Heritable diseases of connective tissue. In: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR, eds. Kelly and Firestein's Textbook of Rheumatology. 10th ed. Philadelphia, PA: Elsevier; 2017:chap 105.

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 260.

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Review Date: 12/1/2018  

Reviewed By: 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, Boston, MA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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