by Rick Alan
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders. These disorders affect of the connective tissues. This type of tissue is found all over the body. There are at least six different varieties of EDS. They are classified by the type of tissue most affected and how it is inherited.
EDS is caused by a problem in the genetic material. It mainly affects the genes that create connective tissue.
Most types of EDS affect the production of collagen. Collagen is an important part of connective tissue. It gives the tissue strength and allows it to stretch.
The symptoms of EDS can vary. Some may have very mild symptoms. Other may have very severe and debilitating symptoms.
The most common symptoms of EDS include problems with the joints and skin. Joints are loose and unstable which can lead to:
Skin is soft, fragile, and can stretch far too easily. This can lead to problems such as:
Other symptoms depend on the type of EDS you have. EDS can cause problems with:
The doctor will ask about your symptoms and medical history. A physical exam will be done. This is usually enough to diagnosis EDS in most. When the diagnosis is uncertain, tests may include:
There is no known cure for EDS. Treatment may be needed to manage symptoms and or to try to prevent complications.
Treatment will depend on your type of EDS and how severe it is.
For complications of the skin:
For musculoskeletal complications:
Some potential problems will need to be monitored. This includes patients at risk for blood vessel complications. Your doctor may ask for regular testing to examine major blood vessels.
Blood transfusions may be needed for severe bleeding.
Certain steps may help you reduce the chance of complications. Talk to your doctor about step that may help you such as:
There is no known way to prevent EDS once a person is born. If you have EDS or have a family history of the disorder, consider genetic counseling when deciding to have children. The counselor can talk to you about the risk of your child having EDS.
Ehlers-Danlos National Foundation
National Institute of Arthritis and Musculoskeletal and Skin Diseases
The Arthritis Society
The Canadian Ehlers-Danlos Association
Ehlers-Danlos syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated May 16, 2012. Accessed December 10, 2012.
Harrison’s Principles of Internal Medicine . 16th ed. McGraw Hill; 2005.
The Merck Manual of Medical Information . Simon and Schuster, Inc.; 2000.
National Organization of Rare Disorders website. Available at: http://www.rarediseases.org .
Questions and Answers about Heritable Disorders of Connective Tissue. National Institute of Arthritis and Musculoskeletal and Skin Diseases website. Available at: http://www.niams.n.... Accessed December 10, 2012.
What is Ehlers-Danlos syndrome? Ehlers-Danlos Foundation website. Available at: http://www.ednf.or.... Accessed December 10, 2012.
Last reviewed December 2012 by Michael Woods, MD
Last Updated: 12/7/2012