Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome

 What is Ehlers-Danlos Syndrome (EDS)?

Ehlers-Danlos Syndrome, also known as EDS, is a disorder that weakens the connective tissue in the body, making joints loose and hypermobile. EDS is often inherited and greatly varies in how it affects the body. Each person’s experience is their own and is likely to not be the same as someone else’s. As the most common symptoms are not visible nor are they readily testable with standard tests, Ehelers-Danls Syndrome’ diagnoses are often missed. Common misdiagnoses include fibromyalgia, chronic fatigue syndrome, “you just got loose joints”, and “it’s in your head”.

There are 13 subtypes of Ehlers Danlos Syndrome. Many people are often affected by other syndromes. The diagram below illustrates how commonly and tightly these are all intertwined:

Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome related diseases

The most common subtypes are “Hypermobile” (hEDS) and “Classic”(CEDS).

What is considered Hypermobile EDS (hEDS) and how is it diagnosed?

Hypermobile EDS (formally EDS type III) has:

  • Generalized joint hyper-mobility (affecting both large and small joints)
  • Mild involvement of the skin (thin and uncharacteristically smooth)
  • Acute or chronic pain
  • Chronic fatigue
  • Anxiety
  • Sleep disturbances

Diagnosing hEDS is not easy. Many doctors are unaware of how to diagnose or treat patients with any type of EDS. While Ehlers-Danlos Syndrome is classified as a rare disease, it affects about 70,000 people in the United States alone. This can be very frustrating to those with this disorder. There is no test available and there are many factors that may be similar to various other disorders making it even harder to diagnose. A clinical diagnosis of hEDS has a set of 3 detailed criteria that must be met.

What is considered Classical EDS (cEDS) and how is it diagnosed?

The major criteria for cEDS is skin hyper-extensibility and atrophic scarring, as well as, generalized joint hyper-mobility. There are 9 minor criteria which must also accompany the major ones for a diagnosis of cEDS. The final diagnosis requires confirmation by molecular testing which will show a heterozygous mutation in one of the genes encoding type V collagen. cEDS is inherited in the autosomal dominant pattern.

What should I expect from treatment?

We will lay out what your treatment path looks like after an exam. We don’t predetermine what your care is going to be. It is tailored to what each person needs. Most often, treatment is a combination of in-office and home-based therapy. Muscle & Joint Clinic will closely monitor your progress, modifying it as your body restores its strength and capacity.

Will I be able to reduce my pain and increase my function?

For most people, Yes. While Ehlers-Danlos Syndrome is not curable, Muscle & Joint Clinic’s proven track record has allowed many of our patients to see significant improvement. We have helped patients devastated by pain, joint instability, and other aspects of EDS. We work with you to find the best way to develop a pain-reduced or pain-free lifestyle. Many people who live with EDS have learned with proper treatment they can still be active and play the sports they love.