About EDS

Graphic of Beighton scale signs

Common bendy signs of EDS

Elhers-Danlos Syndrome or EDS is the name given to a collection of genetic collagen defects and as such, is one of the least rare Heritable Disorders of Connective Tissue or HDCTs. Heritable means it is genetic, that is, it runs in your family, and most types are autosomal dominant, meaning you have a 50/50 chance of getting it from one affected parent. Experts now believe it may run in as high as 2% of the general population (Castori et al, Dermatology 2012), or 1 in 50 people – far from rare! (I personally strongly agree as you’ll see elsewhere – I strongly suspect ALL with Fibromyalgia, though again, I’m not a doctor.)

Other more rare HDCTs include Marfan Syndrome, Stickler’s Syndrome, and Osteogenesis Imprefecta aka “brittle bone disease” with which we can have many overlapping signs and symptoms lending to the confusion. (Some of those involve other faulty proteins such as fibrillin however. Make sure to rule them out if you suspect any HDCT). There are several types of EDS, and new mutations are found in the different types of collagen all the time, so it’s not a simple “one-size-fits-all” condition or diagnosis as you’ll soon see, lending to the diagnostic challenge. When to Suspect EDS | When Else to Suspect EDS

And to further confuse matters, EDS has been known by other names both in the past, and currently still in some other places (England, elsewhere) as either Hypermobility Syndrome (HMS), Joint Hypermobility Syndrome (JHS) and (my favorite) Benign Joint Hypermobility Syndrome (BJHS). (There’s nothing very benign about it for sufferers aside from the literally meaning that you’re not dying, TYVM.) It is also often under-diagnosed currently as fibromyalgia due to the lack of awareness of the milder manifestations. Leading experts increasingly agree these are all likely just variable expressions of the most common form of EDS, Hypermobile EDS as discussed on p 17 here.

As one of the main connective tissue proteins, collagen runs throughout your entire body, but especially all through our connective tissues, including tendons, ligaments, muscles, vasculature, GI tract (gut) and fascia, and is sort of the “glue” that helps hold us together and gives our skin its youthful elasticity and our fascia, tendons and ligaments the ability to “snap back” and hold our skeletons together (literally). In Ehlers-Danlos Syndrome, the collagen protein is deficient or deformed (or both), causing the resulting tissues to “fail” much sooner than normally expected. (We are the folks whose joints “age early” and see the rheumatologist, orthopedist, dentist, podiatrist and chiropractor a lot.)

Accordingly virtually every body system is affected, and in some surprising ways from hernias of all kinds, to prolapses, cracked teeth, Fibromyalgia, dysautonomia, mood disorders and GI dysmotility to name a few, beside the more common and obvious joint dislocations and subluxations (partial dislocations, or ability to pop the joint back in – or being so-called “double-jointed”).

Virtually all persons with some form of Ehlers-Danlos Syndrome are hypermobile  or more accurately quite flexible (bendy) to some extent, especially as children (more than the average child), often turning to dancing or performing for their careers, but not all are, and others become much less so with age and arthritis adding to the diagnostic challenge which focuses primarily on hypermobility (flexibility or “bendiness”). That said, we find virtually all can still exhibit some degree of “flying bird hand sign“, even so. And I should clarify that technically, you can still be hypermobile without being bendy or flexible – you just won’t bend far before you “break” tear or injure to some degree. (I’m now this way.) Thisis one of the reasons the Brighton Diagnostic Criteria were developed in 1997, to account of extra-articular (non-joint related) signs of EDS. (You can score 0 on the Beighton 9 pt Hypermobility Scale but still pass the Brighton Diagnostic Criteria.)

Picture of feet in first position of ballet

First position in ballet

As  mentioned, there are several kinds of EDS, with new mutations arising all the time (we’re all mutants, sorry, join the club)! But experts now usually refer to one of the six main kinds of EDS, of which five are rare (all but HEDS), some extremely so and fortunately have identified distinct genetic markers for them that can be tested for by skin biopsy or blood test depending on the type when suspected.

They also now refer to them by their descriptive names (e.g. Hypermobile, Classical, Vascular, etc.) to avoid confusion with the collagen type number with which there is no correlation. The Professional Advisory Network is urging everyone to switch to the descriptive names for this reason now. But you may occasionally see reference to the old types using numbers still, as shown here:

  • Hypermobile Type or HEDS (formerly EDS Type III) – quite common, not well defined yet, many diagnosed with “fibromyalgia” instead, no single tissue or blood marker identified yet (see below for more on how to diagnose it)
  • Classical Type or CEDS (formerly Types I and II) – semi-rare (1 in 5,000 -10,000), markers defined
  • Vascular Type or VEDS (formerly Type IV) – rare (1 in 20,000) and life-threatening from internal organ or vascular ruptures
  • Kyphoscoliotic Type or KEDS (formerly Type VI, also called Ocular-Scoliotic by the UW) – quite rare
  • Arthrochalasiac Type or AEDS (formerly Types VIIA and VIIB) – quite rare (2-300 people worldwide approximately)
  • Dermatosparaxis Type or DEDS (formerly Type VIIC) – extremely rare (<200 people worldwide approximately)

Alas, the most common type by far (representing a vast majority of cases), Hypermobile EDS or “HEDS” has no single tissue marker identified as yet, and so can only be diagnosed clinically still through careful physical exam by a trained doctor (preferably a medical geneticist) using the Brighton Diagnostic Criteria (not just the 9pt Beighton scale which is just a misleading part of the criteria) aided by thorough family medical history where available.  To lend to the confusion for both doctors and patients, as mentioned before HEDS has been known in the past (and still is in some places) by several other names, including Hypermobility Syndrome (HMS), Joint Hypermobility Syndrome (JHS) and (my favorite) “Benign Joint Hypermobility Syndrome” or BJHS.  Age and severity of onset vary extremely widely, just like any other trait that runs in a family such as hair color. I was completely subclinical until I fell apart suddenly for unknown reasons in 2012 when I finally got diagnosed at 45. I most certainly did not “catch” HEDS in 2012 – it’s not infectious. (I’ve had it since I was a zygote.)

Many patients with Fibromyalgia later find they really have a form of EDS, and I’ve yet to meet one in real life who doesn’t pass the Brighton Diagnostic Criteria for HEDS (Hypermobile Type EDS). That’s Brighton with an R, NOT just the 9 pt Beighton Hypermobility Scale only, which in a plot to confuse is just a part of the Brighton Diagnostic Criteria, and which can be as low as zero by age 50 due to stiffening and early onset arthritis causing doctors to misdiagnose older patients like myself as we age due to this poorly known fact. I’m lobbying hard for a name change for one of these to help clear up the ongoing confusion that arises from the similar spellings. (Professor Peter Beighton is a smart guy in South Africa who developed an epidemiological field test for the trait of hypermobility only years ago. Brighton, England is a place where the diagnostic criteria for Ehlers-Danlos were updated in 1997 since many non-bendy and older patients were getting missed.)

We dearly hope for the day more of the SNPs (genetic defects or single-point mutations) are sussed out by the smart lab rats working away on same as I type making this much less confusing and easier one day. Until then, you’ll want to study the Brighton Diagnostic Criteria closely. (Google the unfamiliar terms).

The following books are a good starting place to learn more:

  • Joint Hypermobility Handbook- A Guide… – Dr. Brad Tinkle, 2010 (2nd edition, blue cover)
  • Hypermobility, Fibromyalgia and Chronic Pain, 1e – Hakim, Keer and Grahame, 2010 (for MDs)
  • A Guide to Living With Hypermobility Syndrome: Bending without Breaking –Isobel Knight w A. Hakim, 2010
  • A Multidisciplinary Approach to Managing Ehlers-Danlos (Type III) – Hypermobility Syndrome – Isobel Knight (2013)
  • Hypermobility Syndrome: Diagnosis and Management for Physiotherapists, 1e – Keer & Grahame, 2003

Along with the following websites:

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And some additional great blogs from fellow zebras and likely zebras I recommend:

Thanks for reading, I hope you find this blog informative and encouraging over time. To your health! Jan Groh, owner. (Do not repost or copy without permission, thank you).