Ehlers Danlos Syndrome

Ehlers Danlos Syndrome is a group of inherited connective tissue disorders caused by a defect in the collagen gene. 80% of the human body is composed of collagen, as it forms the skin, tendons and ligaments, organs, and blood vessels.

The role of collagen is to provide structure to the body. It is known as the “glue” that holds the body together.

“An analogy: If one builds a house with bad materials, with cheap nails or only half the wood required, problems will arise. Some problems are more likely to show up than others, but because the bad or missing materials are everywhere and not necessarily visible, one can be surprised where some problems occur.” [ x ]

In patients with Ehlers Danlos Syndrome, the body produces faulty collagen, making EDS bodies similar to a house built with unsupportive materials. The collagen in EDS patients is overly lax, resulting in tissues that are easily damaged.

 

 

Although the majority of Ehlers Danlos types have a pinpointed gene depicted in the above chart, the Hypermobility Type (Type 3) does not.

I was clinically diagnosed by the connective tissue geneticist, Dr. Brad Tinkle, at the young age of fourteen. The Beighton Scale aids in diagnosis tremendously because it is used to access the extent of joint hypermobility. However, other factors also contribute to the diagnosis.

With collagen comprising nearly the entire body, symptoms of EDS are multisystem—especially when considering the secondary diagnoses that result. Excluding secondary diagnoses for this post, there are still many symptoms caused directly by Ehlers Danlos Syndrome.

  • Joint Laxity/Hypermobility
  • Dislocations or Subluxations
  • Soft, Velvety Stretchy Skin
  • Poor Wound Healing
  • Abnormal Scarring
  • Easy Bruising
  • Chronic Pain
  • Organ Rupture
  • Early Osteoporosis
  • Mitral Valve Prolapse
  • Aortic Dissection
  • Skeletal Abnormalities (i.e. scoliosis, kyphosis, lordosis, pectus chest deformities, etc.)
  • Gastrointestinal Distress
  • Autonomic Dysfunction

While certain EDS symptoms might be more prominent in one type versus another, they often overlap. The above symptoms are typically present, however mild, in most types of Ehlers Danlos Syndrome.

Visit The Ehlers Danlos Society for additional information.