Ehlers-Danlos syndrome (EDS) is a group of inherited conditions. These conditions affect
the connective tissues. This type of tissue is found all over the body. There are at least 6 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.
Having family members with EDS increases your chance of EDS.
The symptoms of EDS can vary. Some may have mild symptoms. Others may have severe and life-changing symptoms.
The most common symptoms of EDS include problems with the joints and skin. Joints are loose and unstable which can lead to:
Perforation or bleeding along the gastrointestinal tract
Pregnancy, such as:
Early rupture of membranes
Bleeding during pregnancy and excessive bleeding during or after childbirth
Higher complications from procedures
Muscles—low muscle tone with delayed motor development
You will be asked about your symptoms and medical history. A physical exam will be done. This is usually enough to diagnosis EDS in most people. When the diagnosis is uncertain, tests may include:
—to look for abnormalities in the connective tissue
Detection of specific biochemical defects—available for certain types of EDS
There is no known cure for EDS. Treatment may be needed to manage symptoms and or to try to prevent complications.
Treatment of Symptoms
Treatment will depend on your type of EDS and how severe it is.
For complications of the skin:
Vitamin C supplements may be helpful in certain subtypes of EDS. It may help to decrease skin bruising and improve wound healing.
Special care will be taken when repairing skin wounds. This may help to prevent or decrease scarring.
For musculoskeletal complications:
Medication may help control pain.
Surgery may be done to repair joint damage.
Some potential problems will need to be monitored. This includes people 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.
Treatment to Reduce the Risk of Harm
Certain steps may help you reduce the chance of complications. The following may help you:
Wear joint braces.
Do muscle strengthening exercises.
Consider physical therapy to help strengthen muscles and joints.
Wear sunscreen daily.
Avoid activities that may cause injury, bruising, or over-extending your joints.
Children may be asked to wear protective gear during activity.
Talk to your doctor about possible pregnancy complications.
There is no known way to prevent EDS. If you have EDS or have a family history of the condition, consider genetic counseling when deciding to have children. The counselor can talk to you about the risk of your child having EDS.
Questions and Answers about Heritable Disorders of Connective Tissue. National Institute of Arthritis and Musculoskeletal and Skin Diseases website. Available at: http://www.niams.nih.gov/Health_Info/Connective_Tissue/default.asp. Accessed January 29, 2021.
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