Ehlers-Danlos syndrome (EDS) is a complex group of rare hereditary disorders involving connective tissues. Connective tissues support parts of the body. Examples of connective tissues are skin, tendons, ligaments, and cartilage. EDS usually results in over-flexible (hypermobile) joints, over-elastic (hyperelastic) skin, and fragile tissues. There are at least six different varieties of EDS. They are classified according to how they are inherited and which structures of the body they mostly involve.
EDS is caused by defects in the genes that control the formation of connective tissue. The specific genetic defect in most types of EDS affects the production of collagen. Collagen is a structural protein. It strengthens and provides elasticity to connective tissue.
A risk factor is something that increases your chance of getting a disease or condition. Risk factors for EDS include:
The severity of EDS symptoms varies from mild to very severe and debilitating. Symptoms depend on the specific type of EDS.
The most common symptoms of EDS include:
Other symptoms of EDS may include:
The doctor will ask about your symptoms and medical history, and perform a physical exam. This is usually sufficient to diagnosis in most cases. When the diagnosis is uncertain, tests may include:
There is no known cure for EDS. Treatment usually involves treating symptoms and trying to prevent complications.
Treatment may include:
Preventive treatment may include:
RESOURCES:
Ehlers-Danlos National Foundation
http://www.ednf.org
National Institute of Arthritis and Musculoskeletal and Skin Diseases
http://www.niams.nih.gov
National Organization for Rare Disorders Inc
http://www.rarediseases.org
CANADIAN RESOURCES:
The Arthritis Society
http://www.arthritis.ca
The Canadian Ehlers-Danlos Association
http://www.ehlersdanlos.ca/
References:
Harrison’s Principles of Internal Medicine . 16th ed. McGraw Hill; 2005.
Ehlers-Danlos Foundation website. Available at: http://www.ednf.org .
The Merck Manual of Medical Information . Simon and Schuster, Inc.; 2000.
National Institute of Arthritis and Musculoskeletal and Skin Diseases website. Available at: http://www.niams.nih.gov .
National Organization of Rare Disorders website. Available at: http://www.rarediseases.org .
Last reviewed November 2008 by Rosalyn Carson-DeWitt, MD
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