Ehlers Danlos Syndrome (EDS)

Fact: An estimated 1 in 5000 people have EDS. There is no cure.

What is Ehlers Danlos Syndrome?

The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are categorized according to the form of genetic transmission into different types with many features differing between patients in any given type. The fragile skin and loose joints  and tissue fragility is often a result of abnormal genes that produce abnormal proteins that confer an inherited frailty of collagen.

In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally plays a role in binding together the cells of our tissues (including the skin, tendons, muscle, and blood vessels). Abnormalities in this protein, called tenascin, also lead to a form of Ehlers-Danlos syndrome. Researchers suspect that tenascin could play a role in regulating the normal distribution of collagen in the connective tissues of the body.

What defective genes cause EDS?

  • ADAMTS2 (provides instructions for making the proteins that work with collagen)
  • COL1A1 (provides instructions on how to assemble collagen)
  • COL1A2 (provides instructions on how to assemble collagen)
  • COL3A1 (provides instructions on how to assemble collagen)
  • COL5A1 (provides instructions on how to assemble collagen)
  • COL6A2 (provides instructions on how to assemble collagen)
  • PLOD1 (provides instructions on how to assemble collagen)
  • TNXB (provides instructions on how to assemble collagen)

Defects in these genes weaken the process and formation of collagen. Collagen is made up of molecules that give structure to connective tissues in the body.

Classical EDS Symptoms:

  • Loose joints
  • Highly elastic, velvety skin
  • Fragile skin
  • Skin that bruises easily
  • Redundant skin folds on the eyes
  • Muscle pain
  • Muscle fatigue
  • Benign growths on the pressure areas (such as the elbows and knees)
  • Heart valve problems

Hypermobility EDS Symptoms:

  • Loose joints
  • Easy bruising
  • Muscle pain
  • Muscle fatigue
  • Chronic degenerative joint disease
  • Premature osteoarthritis
  • Chronic pain
  • Heart valve problems

Vascular EDS Symptoms:

  • Fragile blood vessels
  • Thin skin
  • Transparent skin
  • Thin nose
  • Protruding eyes
  • Thin lips
  • Sunken cheeks
  • Small chin
  • Collapsed lung
  • Heart valve problems

Want to learn more?

The following are organizations and/or websites dedicated to providing information and/or education surrounding Ehlers-Danlos Syndrome. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.

Arthritis Foundation
Ehlers-Danlos National Foundation 
Ehlers Danlos Syndrome Network C.A.R.E.S. Inc.
Ehlers-Danlos Syndrome Support Group
National Institute of Arthritis and Musculoskeletal and Skin Diseases 
National Organization for Rare Diseases