Ehlers-danlos syndrome is a group of inherited disorders that affects the connective tissue supporting the bones, skin, joint, and blood vessels. The inherited faulty gene results in a mutation of the collagen gene. Collagen is a protein that adds flexibility to the and strenght to the connective tissue.
Let’s think about that for a second. If the supporting tissue of the skin is overly flexible and does not hold the skin together successfully, what would the result be? You guessed it. Stretchy skin, easy bruising, tears, and abnormal scarring called athropic scars and poor wound healing. If we apply the same reasoning to connective tissue supporting the joints, what would we have? A person may have subluxations ( partial dislocation of joints), dislocations, balancing issues, and difficulty with the movement & awareness of the body ( this is called propioception).
Based on what we know about connective tissues, we can summarize that Ehlers-Danlos Syndrome affects the entire body systems. Ehlers-Danlos Syndrome is categorized into 13 subtypes. The Ehlers-Danlos Society has done a great job explaining each subtype, so we are not going to go into detail about each of them. For our discussion, we are going to focus on one subtype, hEDS.
What is hEDS? hEDS stands for hypermobile Ehlers-Danlos Syndrome or Ehlers-Danlos type 3. This is the only subtype that does not have an identifiable genetic mutation in collagen YET. The diagnosis of hEDS is a clinical diagnosis based hyperflexibilty, joint pain, a family member diagnosed with EDS, and genetic testing to rule out other forms of EDS. Again, please visit the Ehlers-Danlos Syndrome Society webpage for a comprehensive list if criterias that need to be met to diagnose hEDS. Honestly, they did a great job with the information provided. AIN’T NO NEED TO REINVENT THE WHEELS.
I needed to establish the above background information because in my experience and others I interacted with, this provides some explanation of the reasons some clinicians question the validity of hEDS due to lack of an identifiable genetic mutation. At the present, many clinicians shy away from providing a diagnosis of hEDS.
Let’s start with giving them the benefit of doubt assuming their reason is because a patient with a condition that affects multiple organ system is difficult to treat and time consuming ( we are not blaming the patient, these are simply the facts). Then there is the other end of the spectrum, clinicians who believe if there is no tangible diagnostic testing to prove a disease exists then it can’t be treated. Some hold the mistaken view that subjective data and physical examination alone cannot be used as reliable evidence to warrant a diagnosis of hEDS. Hence, the disparaging comments & less than ideal treatment when a patient goes in to see their provider with symptoms they believe may be caused by hEDS. Often, not only are they met with skepticism, some patients are laughd at. Or outright told they are depressed, attention seeking, lazy, need to lose weight, need to man up, get job like everyone else. Even if the patient meets the criteria for a diagnosis of hEDS, they are informed it does not matter anyway, there is no cure for hEDS, nothing can be done about their symptoms.
Here is what you need to take away from that. Run! Why? It is not true. First of all, there are multiple conditions that do not have a cure such as autoimmune diseases, inherited congenital conditions, & cancers. The the goal of treatment is to provide relief from symptoms, prevent progression & improve the patient’s quality of life. So what are the benefits of pursuing a diagnosis of hEDS?
There is much to learn about hEDS and EDS in general. In the meantime, you can still have the support you need if you are waiting to get a diagnosis. There are clinicians willing to listen and help you find the proper diagnosis. I have found that Facebook support groups have been a major game changer for me. Check out the Ehlers-Danlos support group on Facebook or you can join a local Facebook book support group.
Please share your experience of the journey to diagnosis & what convinced you that you had EDS. Leave your comments below.