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Ehlers-Danlos syndrome - Overview

Definition of Ehlers-Danlos syndrome:

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, incidence, and risk factors:

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.

  • Reviewed last on: 11/7/2010
  • David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

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

Krakow D. Heritable diseases of connective tissue. In: Firestein GS, Budd RC, Harris ED Jr, et al, eds. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 96.

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