Ehlers Danlos Syndrome Cause [Plus 3 Ways to Get Tested]

Ehlers Danlos Syndrome cause(s) — what exactly causes EDS in the body and how does one go about figuring out if they have it or not? 

Below, we’ve highlighted some insight as to the causes and also a few paths you can take to figure out if this is something that you have. 

Also, we’d like to direct you to another article that we’ve written here titled What is Ehlers Danlos Syndrome Hypermobility and Why Should You Care?, which goes more into the broader spectrum around EDS and Hypermobility Spectrum Disorders. 

For many people, as with many rare things that can happen to our bodies, the process to figure out what we’re dealing with can be a meandering road that requires us to pull together many random puzzle pieces. And then healing from a dis-ease in the body can also be a very long, weird, winding journey as well. 

In the case of EDS, figuring out if a person has this can be difficult since it’s not something that the entire medical community is aware of. If someone does figure out that they have EDS, understanding how to manage it is critical considering at this current time there’s not a known “cure” per se to turn off all the symptoms completely. 

Rare Disease Day’s website (that you can find here or below in our resources section) has an interesting article about someone else’s experience with EDS and shares some of the highlights of how she finally figured out this is what she was dealing with in her life.

Like many with EDS, what she noticed is that she always had extremely hypermobile joints (going back to when she was very young), she experienced joint pain (and was way too young to be having joint pain like she was experiencing), and she also had an underlying feeling of fatigue. She also noticed that she had poor wound healing, that her skin would bruise easily, and she also had joint subluxations, etc. She went years without understanding the root cause because she kept going to doctors and getting misdiagnosed. What she found is that there are a lot of doctors that are completely unaware that EDS exists. 

So, what are the causes of Ehlers Danlos Syndrome?

According to the Ehlers Danlos Awareness website (found here or below in our resources): 

“Ehlers-Danlos syndrome (EDS) is a genetic illness that affects the connective tissues of the body. The skin, blood vessels, bones, and organs are all supported and structured by connective tissue, also known as elastin. It is made up of cells, fibrous material, and a protein known as collagen, among other things. An inherited collection of genetic abnormalities is responsible for Ehlers-Danlos syndrome, characterized by a reduction in collagen production.”

And, according to the Cleveland Clinic (found here), the causes of EDS are: 

“A defect in collagen (proteins that add flexibility and strength to connective tissue) causes Ehlers-Danlos syndrome.” Additionally, it has been found that people with the syndrome (as Dr. Mike here at StrengthX has found, you can learn more on that here) have a faulty gene that leads to weak collagen or not enough normal collagen in the tissues. This does harm to the connective tissue’s ability to support muscles, organs, and other tissues. 

If you think that EDS might be something that you’re dealing with but haven’t had any testing completed around it, here are a few vital things you should know:

  1. You can get genetic testing done. This is the most common way to identify the condition and this is how they look for the faulty gene.

  1. There is a possibility to get a physical exam: During a physical exam, a doctor can see how much the skin stretches and how far the joints can move to help you determine what’s beyond a “typical” ability of the skin to stretch, as well as what’s beyond a “typical” ability for a joint to extend.

  1. Imaging: There are tests that can provide images of the inside of the body that can help doctors identify abnormalities including heart function problems and curved bones. These tests can often include X-rays and computerized tomography (CT) scans. 

Another option to consider if you’re in the Asheville, NC area is to come speak with Dr. Mike. There’s no better way to understand EDS than speaking to someone that has it and knows exactly what they’re dealing with, plus the best ways to manage it.

Summary

Some of the commonly reported symptoms of EDS are extremely hypermobile joints, joint pain (that shouldn’t be there as it’s not related to sports injuries or heavy workout loads),  an underlying feeling of fatigue, poor wound healing, and skin bruises easily.

If you or someone else you know has any of the symptoms listed above, there are three ways listed above to test for EDS that include genetic testing, a physical exam, or imaging (via X-ray or CT scans). 

Resources

  1. https://www.rarediseaseday.org/heroes/life-with-ehlers-danlos-syndrome/ 
  2. https://ehlersdanlosawareness.com/2021/07/10/what-causes-ehlers-danlos-syndrome/