Flexibility ≠ Hypermobility
I've said it before, and I'll say it again, flexibility (muscles) and hypermobility (joints) are not one in the same. Another major misconception in Ehlers-Danlos Syndrome (EDS) is in regard to stretchy skin. In 31% of cases, highly stretchable skin is not present. EDS actually results in a loss of tissue elasticity. Too many doctors are unaware of these facts, and the misconceptions are hurting patients.
As hypermobility goes up, flexibility can often go down. As is the case for me, muscles can tighten while attempting to stabilize hypermobile joints. Many with EDS, including myself, have extremely tight hamstrings, even in childhood, as the hamstrings try to protect the hypermobile spine and joints. Can EDS patients be extremely flexible? Absolutely. But, flexibility is not what doctors should be assessing when EDS is up for diagnostic consideration.
Want proof EDS is not about flexibility? My hypermobility is most obvious in my fingers. Why? Because the hand is unique in that the fingers have no muscles. No muscles to tighten means that my hypermobile joints have free reign to move excessively. Many of my other muscles are tight, so not only was my hypermobility not obvious, I also had no clue I was hypermobile. Go figure.
When my new primary care doctor fully examined me (that was a first!), he found every anterior (front) muscle in my body is loose, and every posterior (back) muscle is tight. Recent research has found this curious muscle presentation to be distinct to EDS patients.
Why the misconceptions?
The first patient, described by Alexandre Danlos in 1908, was not a case of EDS, as the patient was later proven, in 1933, to have Pseudoxanthoma Elasticum. Unfortunately, to this day, the medical community clings to the inaccurate description, and many patients are denied diagnoses for not having excessively stretchy skin and/or extreme "flexibility."
A few months ago, my mom told me that I'm "not the doctor police." To that point I say, "If not me, then who?" The lack of awareness regarding EDS and its comorbidities needs to be corrected, and if I have to personally police every doctor I encounter, then so be it. People are hurting; people are suffering. If we don't care about others, then what exactly is the point? This world can be a lonely place, and in my opinion, one person can make a difference, even if that difference is made little by little and by helping one person at a time.
What is Ehlers-Danlos Syndrome?
EDS is an inherited connective tissue disorder, with a defect in the production or processing of collagen, depending on the EDS type. To understand the widespread impact of having defective connective tissue, it's important to address the bodily purposes of connective tissue and collagen.
- What: One of four types of tissue forming the extracellular matrix
- Cells surrounded by fibers (e.g. collagen, elastin)
- Ehlers-Danlos Syndrome = Collagen defect
- Pseudoxanthoma Elasticum = Elastin defect
- Cells surrounded by fibers (e.g. collagen, elastin)
- How: Variations determine what the tissue becomes (e.g. a calcified matrix can become bone or teeth, other forms can become tendons, ligaments, the eye cornea, etc.)
- Purpose: Structural and metabolic support for organs and other tissues
- What: A fiber; the body's most abundant protein!
- How: Form as chains which twist, form a line, and bond into ropes known as fibrils
- Purpose: Collagen is found almost everywhere in the body, including bone, teeth, corneas, skin, blood vessels, intervertebral discs, ligaments, and tendons
Estimations for the two most common EDS types indicate a frequency of 1 in 10,000 to 15,000 (hypermobility) and 1 in 20,000 to 40,000 (classic). Regardless, EDS is massively under-recognized and under-diagnosed. In the UK, clinical reporting from a rheumatology clinic is 45%, in Chile, a clinic reports 39%, and an estimated 1 million people in France are affected.
- Fragile tissue: Skin tearing, small blood vessels bursting, easy bruising, osteopenia
- Pain: Joints and muscles affected, loss of elasticity, disrupted signaling (e.g. proprioceptive dysfunction, dysautonomia, and dystonia)
- Other major symptoms: Fatigue, hemorrhaging, constipation, gastro-oesophagal reflux, dyspnea, respiratory and sleeping disturbances, random bradypnea, tachycardia and bradycardia, unstable blood pressure, cognitive difficulties
Collagen holds the body together, so it's no wonder EDS patients' symptoms can be so diverse. With numerous medical specialities, it's easy to miss a collagen defect presenting in various ways within potentially every bodily system.
Frequent Dislocations Not Always Present
Not all EDS patients suffer from frequent dislocations. I constantly sublux joints, but I didn't even know it! My excessive ranges of motion, to me, were normal. Subluxations in EDS involve the joints easily sliding in and out of position. Having always lived in my body, subluxations seemed like a natural motion, and for me, it is. EDS involves generalized joint laxity, as essentially my joints partially dislocate and then easily slide back into place. Every time I rotate my ankles, they pop. I can rotate them over and over again, and they'll pop every single time. When I put my hands together behind my back into reverse namaskar, my shoulders pop. When I sit in the W-position (not normal for an adult, and an indication of hypermobile knees and hips!), my hips pop. When I bend down, my knees pop. If it's a joint, it pops. Often, when I stand, my ankle will feel stuck; if I tilt it slightly to the side, there will be a loud crack, and it'll feel normal again. In EDS, a subluxed joint easily slides back into place by itself (which is why I didn't know my joints were subluxing!), while a dislocated joint requires assistance to move back into its correct location. Many EDS patients with frequent dislocations are able to relocate their own joints.
Note: Subluxations/dislocations can be equally painful.
- Subluxation: Usually goes back into place on its own.
- Dislocation: Must be put back manually.
- You can have a partial dislocation (e.g. ribs, often either front or back).
EDS & Frenemies (a.k.a. My Comorbidities)
If EDS is not about "flexibility" and "overly stretchy skin," then what is EDS, and how do we know it when we see it? The clinical variability in EDS patients is "substantial." Here's how EDS looks for me . . .
For more on the JHS/BJHS/HMS/EDS-H/HT-EDS/EDSIII (sheesh) confusion in the medical community, I recommend EDHS Info's article. However, I do take issue with the statement about the spectrum of the disorder "ranging from those with Joint Hypermobility Syndrome who are often more moderately affected, through to those who are severely affected, many of whom truly have the hypermobility type of Ehlers-Danlos Syndrome," as, in my opinion, such a statement is entirely subjective, and the question of what is moderate to what is severe is a very murky area to involve in objective diagnostics. I also dispute doctors making use of patient comparison, as unless they're going to crawl inside our bodies and experience our lives daily, how exactly are they judging what's severe and what's only moderate? Comparisons of patients make our lives into a competition, and given that we should be helping and supporting each other, I very much disagree with such a practice. However, this subject is likely best addressed in a later post, as I could write a novel.
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