(Last edited March 19, 2017, more edits to come post new nosology.)
Ehlers-Danlos Syndrome or EDS is the name given to a collection of genetic collagen and other connective tissue defects and as such, is one of the least rare Heritable Disorders of Connective Tissue or HDCTs.
Update February 18, 2017: The new nosology will now refer to it as a collection, so in the plural, as “the Ehlers-Danlos Syndromes” (with an “s”), and then a new subcategory called the “Hypermobiltiy Spectrum Disorders” or HSDs for those who are a wee too subclinical to meet the newly tightened hEDS criteria, but still plenty symptomatic. (Trust me, they feel our pain, and are hoping to get it treated. That’s the goal of this new category.)
BJHS, JHS and HMS and the Brighton (with an “r”) Diagnostic Criteria are all going to be rolled up into the new HSD diagnosis, but the Beighton 9 pt hypermobility scale remains. But at least there will be a little less confusion between those two names going forward accordingly. (Only Beighton remains to my dismay.) So please take this old info below with several grains of salt now until I can get full info/clarity after March 15th, 2017, thanks! [End update]
The EDS just published an FAQ about the pending new EDS Nosology still coming March 15th, 2017. Patience grasshopper! Patience…
March 17, 2017: And the (giant) new 18 articles describing the new Ehlers-Danlos Syndromes nosology is here now – knock yourself out while I scramble to update the following when I can thanks!f (Some of it still applies, so still worth reading for the old view of things and a bit of EDS history if you have the time.)
Original post (from the old nosology, NOW OUTDATED 3/17):
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. You would have 75% chance of getting it if both parents have it, which we’re often realizing may be the case in the most clinically visible and afflicted cases in 20/20 hindsight. But it is highly variable even within the same family and even in twins.
Experts now believe the hypermobile form (and by deduction now the additional new HSD category that was split off in March 2017) 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. [Editors note Feb 2017: these are all going away under the new nosology, yay! Clarity at last…JG]
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 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 the Ehlers-Danlos Syndromes, 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. Think of it as sort of “aging early“.
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 common and obvious joint dislocations and subluxations (partial dislocations, or ability to pop the joint back in – or being so-called “double-jointed”).
A large percentage of 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.) This is 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.) I.e, if I haven’t made it clear enough: you do NOT have to be very bendy to have EDS. This is a common myth and big red herring delaying diagnosis for many for years. [Feb 2017: this will change soon with the new nosology of course.]
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 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.
Editor’s note February 2017: this information is likely to change shortly as several new genetic defects have been linked to forms of EDS and a new classification and diagnostic scheme for all the types will be published shortly in the American Journal of Medical Genetics. But most new forms are extremely rare, so we may still end up referring to just five or six main types going forward that comprise the vast majority of cases.
They also refer to these former six types by their descriptive names (e.g. Hypermobile, Classical, Vascular, etc.) to avoid confusion with the collagen type number with which there is no correlation, but were used in the past. (This caused a lot of confusion!) Please refrain from using the numbers going forward.
The Professional Advisory Network is urging everyone to switch to the descriptive names for this reason now. (They have for years.) 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 (<100 people worldwide?)
(There are several additional one-off or extremely rare mutations now that only exist in a couple of families so are not listed for brevity and clarity, as most won’t suspect them.)
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. [Edit Feb 2017: this is changing in March 2017, stay tuned, I will update once I am privvy to latest info thanks.]
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.
[Editor’s note February 2017: the new nosology will help resolve this confusion by removing the Brighton Diagnostic criteria, while retaining the Beighton scale, for better or worse.]
I’m lobbying hard for a name change (like these guys just did in 2016) 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.) Update Feb 2016: good news, there may be a major change in all of the nosology after the Professional Advisory Network meets again in May 2016 in NYC to discuss this very matter, stay tuned!
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. (Though I’m increasingly convinced the new RCCX Theory proposed in 2016 may end up explaining a large number of hEDS cases now.) 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:
- The Ehlers-Danlos Society (formerly EDNF) (International)
- Dr. Diana Driscoll’s “Pretty Ill” Website (US)
- EDS Hypermobile Type & JHS Info Site
- Center for Ehlers-Danlos Syndrome Alliance (US)
- Chronic Pain Partners / EDS Awareness (US) (best place for finding US based support groups)
- Medical Zebras
- Ehlers-Danlos Syndrome Support (UK)
- Ehlers-Danlos Syndrome Network C.A.R.E.S. (US)
- The Murray-Wood Foundation (US)
- Dr. Jaime Bravo’s Rheumatology website (CL)
- Rare Disease Connect Site (Worldwide)
- Inspire EDNF Patient Support Forum (US, Worldwide)
- EDS on Physiopedia
- Red Ehlers-Danlos (Argentina)
And some additional great blogs from fellow zebras and likely zebras I recommend:
- http://www.lessflexible.com (may be defunct ATM, but we hope she returns!)
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).