Misconceptions about Ehlers-Danlos Syndrome (EDS) run rampant in the medical community. Quite often, patients know more about EDS than their doctors. Clearly, the assembly line medical practice doesn't leave much time for keeping up on research regarding one disorder with a wide variety of presentations, but a lack of time is really no excuse. Lack of Knowledge = Patient Suffering.
1. Patients fit neatly into one type of EDS.
I have a systemic Ghent score of a 7 for Marfan's, I meet both major Brighton criteria and seven minor criteria, as well as the clinical Villefranche criteria for Classic, Hypermobile, Vascular, and Kyphoscoliotic types. A 2015 UK genetics study, of 177 unrelated patients, found 7% "of cases had a phenotype overlapping multiple EDS types not falling into one specific EDS type" and were deemed "complex EDS."
2. Marfanoid habitus isn't a sign of EDS.
Marfanoid habitus is a minor Brighton criterion. If Marfanoid habitus is so uncommon, why is it included in the criteria? In the 2015 UK study, of 177 patients, 18 had marfanoid features, with two patients having Ghent Marfan systemic scores of ≥7.
3. EDS patients have flat feet. High arches mean you definitely don't have EDS.
Pes planus (flat feet), often seen in Marfan Syndrome, is a well-advertised aspect of EDS. Yet, I've encountered numerous EDS patients online with pes cavus (high arch). I also have pes cavus. This 2014 study included only 20 patients, but yet ... pes cavus was found to be more prevalent than pes planus. It's time research paid more attention to this clinical sign.
4. The Beighton score is the only way to diagnose EDS.
A thorough physician will consider the whole patient and will evaluate utilizing the Brighton criteria, which does account for the Beighton score. The Brighton criteria is a "more adequate" method of assessing adults, as it acknowledges the loss of hypermobility with age.
5. EDS patients know that they've always been "extremely flexible."
Flexibility and hypermobility are not the same. Many EDS patients actually have no idea that they're hypermobile; I certainly didn't. See my post, It's Not About "Flexibility," for more information.
6. All EDS patients have "party tricks."
No, they don't; I didn't even know what a party trick was the first time I was asked at a doctor's appointment. This concept aligns with #5, as not all EDS patients are aware they're hypermobile. Doctors cannot just ask a patient if they have "party tricks," and take the patient's word for it and conclude the patient therefore doesn't have EDS. I would know, as this exact situation happened to me.
7. EDS patients have extremely stretchy skin. If your skin isn't "that stretchy" or isn't stretchy at all, it means you don't have EDS.
In 31% of cases, highly stretchable skin is not present. EDS actually results in a loss of tissue elasticity.
8. Dysautonomia has no connection to EDS and/or is a "wastebasket" diagnosis.
Dysautonomia is an umbrella diagnosis, not a wastebasket diagnosis. A geneticist in Denver told me he doesn't believe in the connection between Dysautonomia and EDS. That declaration was alarming, as apparently, he must know better than all the research that says the opposite.
9. An EDS diagnosis requires family history and a geneticist.
No, it does not. This misconception is damaging and hurtful to EDS patients, especially in the U.S., where the medical community is under the false believe that only geneticists can diagnose EDS. A specialist is not required to diagnose EDS, as at this time, EDS is a clinical diagnosis. If vascular EDS is suspected, it should be ruled out genetically, due to life threatening implications, but for most patients, genetic testing should be used conservatively and only to confirm a diagnosis, not to rule out a diagnosis. Many doctors, in my experience, appear to be afraid to diagnose EDS.
In my situation, where I'm unable to provide family history or a genetic comparison, the process can get even more frustrating. I've been deemed "too complicated," and geneticists have refused to fully evaluate me. Apparently, when things get difficult, the appropriate response is to quit – at least that's the impression I've been given by the majority of doctors I've seen. This response is lazy and unacceptable. Improvement is much needed. Patients should not have to fight for a diagnosis and competent medical care.
10. Fatigue is not a common symptom of EDS.
Yes, it most certainly is. Fatigue is arguably the most common symptom of EDS, along with pain. From the patient perspective, chronic fatigue in EDS can be even more debilitating than chronic pain, and fatigue severely impacts quality of life.
11. Vitamin deficiencies have "nothing to do" with EDS.
Given that connective tissue is present in over 90% of the body, I'd love to know how a doctor knows what has to do with EDS and what doesn't. In my case, a genetic counselor actually said this statement to me, which was a huge RED FLAG that clearly she didn't know very much about EDS. It wasn't a comforting revelation when you're there to see a geneticist who claims to be an "EDS expert." From what I've seen, that geneticist is nowhere near an expert and has a lot to learn, as EDS is far more than just "joints and skin." Neglecting to see the multi-systemic picture that is EDS is a huge oversight. My motto is, when a doctor is unwilling to admit to not knowing everything and/or has zero interest in learning from a patient, it's time to find another doctor.
12. If you don't have all of the known clinical signs of EDS, it means you don't have EDS.
False. There is no rule saying you have to have stretchy skin, you have to have atrophic scarring, flat feet are mandatory, stretch marks are a must, and you are required to be able to place your palms flat on the ground when you lean over while keeping your knees straight. These misconceptions harm patients.
13. People with EDS "don't have to work at it [flexibility]."
Again, I state, flexibility is not equivalent to hypermobility. A pediatric geneticist has actually said such a thing to me though, and it was very clear she'd likely never before evaluated an adult with EDS.
14. Some patients are just "not severe enough" to have EDS.
Doctors should not be comparing their patients according to their personal perceptions of what constitutes "severe enough" for EDS and what doesn't. Such comparisons invalidate the patient's experience and make the diagnostic process entirely subjective depending upon which doctor the patient sees. All EDS patients should be able to access competent and informed medical care and treatment to improve quality of life.
15. It's just a name, and it "doesn't matter what you call it." The treatment protocol is the same either way, so you're fine with a diagnosis of "Hypermobility Syndrome" (HMS), "Generalized Hypermobility of Joints," "Joint Hypermobility Syndrome" (JHS), or "Benign Joint Hypermobility Syndrome" (BJHS).
Personally, I disagree with this statement, and in some situations, such as having surgery or even in receiving referrals and appropriate treatment, having the proper diagnosis does matter. Overall, I disagree the most with the term "Benign Joint Hypermobility Syndrome," as the word 'benign' can invalidate the patient's experience. Many in the medical community agree, stating the diagnosis of "Benign Joint Hypermobility Syndrome" is "now in disuse as JHS should be no longer considered a 'benign' condition." However, the geneticist I saw in Denver, in June 2016, must not have gotten this memo. Regardless, Joint Hypermobility Syndrome "is indistinguishable from the hypermobility type of Ehlers-Danlos Syndrome." The name MATTERS. Having an ANSWER matters. The DIAGNOSIS matters. Being able to UNDERSTAND matters. ACCEPTANCE matters. AWARENESS MATTERS.