When to Suspect EDS

Edit March 16, 2017: This post was first written in early 2014. Since the new, much tighter criteria for the most common form of Ehlers-Danlos syndrome, hypermobile EDS now known as “hEDS” has just come out as of March 15th 2017 here, I would like to preface this by saying that I no longer will say that EDS is not rare per se, but that I still firmly believe the new category of Hypermobilty Spectrum Disorders or “HSD” is NOT rare, just rarely diagnosed. 

This category now supplants the former labels of Hypermobility Syndrome, Joint Hypermobility Syndrome, and Benign Joint Hypermobility Syndrome which some were noting seemed to overlap with hEDS since 2009 here. I’ll allow that the newly tightened and exclusive criteria for hypermobile EDS may put it back in the more rare category again, so I won’t say the same about it anymore.

In fairness to all of our doctors, since the criteria for this new category (and all the known forms of the EDS, plural) has only JUST come out (literally 24 hours ago as I type this March 16, 2017), we cannot be upset with any of them for not being aware of the new category nor the new criteria. It’s our job to help educate them!

So please read my About EDS and Diagnosing EDS posts after you read this one to learn more about all the forms of both EDS and the new category for those who aren’t quite bendy enough: Hypermobility Spectrum Disorders that was just created in 2017. And know that I now intend this particular article to apply to both HSD, and the hypermobile form of EDS primarily.

I cannot and will not speak to the more rare forms of EDS here, since they are truly so rare that I haven’t met enough people exhibiting them to make the same judgment. Further, you guys have such easily visible phenotypes (visible physical signs and gross medical complaints) and get diagnosed so much more easily, you do not tend to suffer from the years of invalidation and misdiagnosis that the so-called “milder” or less hypermobile (bendy) forms do. This article is aimed at this latter population to help them to be suspected and recognized sooner, not the rare forms, sorry, thanks! 

Original post pre-March 2017:

Remember the six blind men and the elephant story? Hypermobility Spectrum Disorders and hypermobile EDS are more like SIXTY blind men and the same elephant! (Podiatrist, dentist, neurologist, cardiologist, dermatologist, allergist… the list goes on!)

So I’m only sharing a few general ways to suspect them here. I’ve come up with a growing reference list of other signs and ways to suspect them here too for shorter attention spans.

There are almost unlimited symptoms ultimately, since being systemic it affects virtually every body system to some degree and in often unexpected ways. But we have to start somewhere, and this is my start.

Others are welcome to do the same. And, not being a doctor, I can’t and don’t expect anyone to take me half as seriously as they probably should, if at all in some cases, thanks to all the misinformation and misunderstanding around these lousy connective tissue disorders.

But if I can raise just one other person’s suspicions or  “zebra-dar” if you will, much less a doctor’s along the way, I will have succeeded in my mission to bring a small shred of enlightenment to the medical world and hopefully reduce the time to diagnosis and related unnecessary suffering for a few of my fellow sufferers out there.

That said, I am not a doctor, so do not take what I write as either gospel, nor as medical advice – let me be clear, you should always consult your preferred medical care provider about your own individual health. If you don’t like your current doctor, change doctors if possible!

And… I personally recommend ultimately seeing a knowledgeable medical geneticist to get diagnosed if you do suspect any form of EDS or Hypermobility Spectrum Disorder. This is because they can strongly resemble several other heritable disorders of connective tissue (HDCT’s) including Marfan’s Syndrome, Osteogensis Imperfecta (OI), and Stickler’s Syndrome, which should be properly ruled in or out via thorough family medical histories. We have a lot of overlapping signs and symptoms and issues. Technically any doctor can and may diagnose the new category of Hypermobility Spectrum Disorders, and we hope they do start to to ease the backlog of suspecting patients.

But a medical geneticist will know how to differentiate these, as well as know when to suspect the more dangerous forms of EDS like Vascular (formerly Type IV) or Kyphoscoliotic a bit better. But we are finding all of the currently qualified medical geneticists to be overloaded with patients now suspecting any and all forms of Heritable Disorders of Connective Tissue (HDCTs) including HSDs and hEDS. So The international Ehlers-Danlos Society is hoping to encourage more doctors to feel brave enough to diagnose more of these sometimes milder less obvious forms with the new guidelines as of March 15, 2017.

So, I’ll highlight some of my personal unprofessional theories, again, emphasizing to take what I write with a grain of salt. (Literally, for some of you with POTS, smile).  That said, this post IS based on over five years of my personal online observation of literally over 20,000 afflicted individuals with every variation on the theme you can imagine from all over the world via Facebook and the former EDNF’s support forum Inspire where we all…. (drum roll please), COMPLAIN of all our issues!

In fact, I’m probably privy to much more thorough “histories” than most of their doctors, because we DO listen to each other and feel safe sharing and have the time to do so, unlike at the doctor’s office.

And no, I’m not reporting things I’ve only seen just once or twice, but common themes I see frequently.  Why we win this freakish bad health lottery I do not know, but we seriously do. (It is a systemic condition after all.) With that, here we go:

My “Fibro Theory”

First and foremost, as all my friends and family know well now, I personally believe almost all people with “Fibromyalgia” likely have some form of Hypermobility Spectrum Disorder and/or hEDS. Seriously. I really well and truly now believe that fibro is really just likely a “lighter” or milder presentation or aspect of Hypermobile EDS (hEDS) and or the new category of HSD based on all the complaints and descriptions I read from thousands of very vocal fibro patients on Facebook and Twitter. And they’re a very vocal bunch as they struggle to be believed as I once did.

I personally experienced fibro-like symptoms and widespread pain since my 20’s in the 1990’s that I was not able to eliminate or improve while adhering to a modern working lifestyle all these years, and so just “sucked up” and carried on despite as best I could. (Not always successfully.)

Further, all of the remedies fibro patients are finding to help alleviate their symptoms including careful physical therapy, especially warm water therapy and nutritional work are exactly what help EDS patients (including me) the most! Now either that’s one heck of a coincidence, or we’re on to something here.

I can’t agree more with Dr. Jaime Bravo, a leading rheumatologist in Chile with whom I’ve corresponded who posits that Fibromyalgia is just a form of pain experienced by hEDS (or now HSD) patients in his “When To Suspect” document he shared with me in 2012. He’s still using the older naming system, so it is called Joint Hypermobility Syndrome on his site here: http://www.reumatologia-dr-bravo.cl .  However he also agrees that all these other forms called JHS, HMS etc. should all likely be called hEDS, now too. (Update March 2017: Or a form of the new category of Hypermobility Spectrum Disorders he is also aware of now as he’s on the committee that helped draft the new 2017 nosology.)

I seriously struggle to silently watch while thousands of fibro patients struggle to control their logically wide-spread pain that isn’t aided by anti-inflammatories or pain meds, or not much, and describe experiences as bad and sometimes worse than my own with hEDS. Some are even using a wheelchair as I did in 2012 – from just widespread pain? I don’t think so! I’m willing to bet dark chocolate they likely have loose unstable joints as well.

As one who experienced it up until my “storm” made my “Fibromyalgia” feel like a cake-walk, I’d say it makes a lot of sense if you have a slightly loose skelly, but haven’t fully dislocated anything yet. And no, thankfully few of you will ever have such a bad “storm” or “cascade” of EDS symptom onset, so please don’t needlessly worry, just be aware of your body’s symptoms at all times. That experience is blessedly rare.

It seems to me that if all your connective tissues, muscles and fascia are struggling to hold your bones in place, they would naturally be prone to tender points or trigger points (either or both IMHO.) Toss in likely mild de-myelination we’re now finding common (comorbid MCAD anyone?), and there’s your burning and tingling pain so many enjoy too.

Let’s put this another way. I’ll say I strongly suspect ANY fibromyalgia patient who also has a history of family medical problems on one or both sides, especially including joint pain with or without arthritis (we’re prone to early onset arthritis of all kinds, including OA and RA both), varicose or spider veins, IBS, and any kind of mood or sensory processing disorders. (Hold that thought!)

Of course there’s no easy remedy, because those nerve endings that Lyrica is supposed to be addressing are constantly being re-activated as your fascia and muscles are warped and stretched beyond normal range. (And mast cells line our nerves, and I now suspect their over-activity to lend to our pain – a lot.)  Toss in our extreme difficulty falling and staying asleep from commonly experienced hyperadrenergia (ultimate cause unknown, but it’s extremely common in the community), and boom: Fibromyalgia.

Everyone, medical practitioners and patients alike needs to be more dialectic, and allow for other possibilities, even if you don’t initially agree with them. You may well be right, but… at least you won’t steam-roll anyone in the process of proving so as is wont to happen with many of us. And I say this fully applying same to myself – you are perfectly welcome to disagree with me on any of these view points as they are just that – opinions.

Dysautonomia and wonky (usually low) blood pressure

I’ve also yet to meet an EDS (or HSD) patient who DOESN’T have some form of dysautonomia, most commonly Raynaud’s phenomenon, low blood pressure (though can sometimes spike or stay quite high), GI motility issues, poor temperature control etc.

While a majority will tend to run low blood pressure, some will have the hyper-adrenergic variant, and some can run quite high and struggle to stay down or keep their heart rates down. Though one tell-tale sign of MCAD for me is anyone with high (or normal) BP who can get it to suddenly drop a lot (say 30 points or more) by eating known triggers. One friend literally controls her high BP via oatmeal and bananas and chocolate – not a bad “prescription” if you ask me!

We can have any variation on this theme, including POTS, NMH, hyper-adrenergic or HyperPOTS, etc. that you can imagine. Many experience syncope (fainting) and pre-syncope (dizzyness, light-headedness upon standing too quickly) from low blood volume and poor circulation. Others impinge their vagus nerves and throw up easily, or experience other GI dysmotility. Some can no longer fly in airplanes. Again, combine any of these with chronic pain, IBS, varicose or spider veins, hypermobility and any joint problems, and I strongly suspect you.

Sleeping disorders

I also suspect anyone who has sleeping problems ranging from the aforementioned trouble falling and staying asleep due to hyper-adrenergia (we often get a “second wind” around 9 pm that can keep you well up until 2 a.m.), to all forms of sleep apnea no matter how light or heavy the patient. Toss in high pain levels, and we’re seriously doomed to be sleepless, sigh.

Even thin EDS and HSD patients can have obstructive airway apnea from weak laryngeal tissues and tracheas or vocal cord dysfunction, and lots of variations on a theme of dysautonomia as already mentioned, including Central Nervous System Apnea, sometimes requiring a form of breathing “pace-maker”. I literally had trouble remembering to breathe even in the daytime through my “storm” of 2012 – I only now know the term for this problem in yet again, 20/20 hindsight thanks to some fellow support group members.

I suspect this was a by-product of some cranial-cervical settling that I’ve since overcome through nutritional work and re-strengthening, (thank God! I’m not sure all can.) Toss in any form of Mast Cell Activation Disorder (MCAD, wither Mastocytosis or MCAS) and allergies leaving us prone to waking from the cyclical histamine shed around 3 a.m. and no wonder we struggle with sleep! I’ve stopped waking since cleaning up my diet (going allergy and trigger-free) and taking some chlorpheniramine maleate at night (an old-school sedating anti-histamine that doesn’t leave me hung over).

But I digress. Again, combine poor sleep with low blood pressure, chronic pain and joint problems of any kind, and I’m willing to bet dark chocolate I have a zebra on my hands.

Arthritis and auto-immune patients

I also suspect anyone who has early onset osteo-arthritis and any forms of auto-immune disorders, but especially ankylosing spondylitis (my dad and 2 aunts had this, and I have the factor for it) or multiple sclerosis.

Don’t ask me why, but I’m now finding that much like with Fibromyalgia, a large number of MS patients I meet in real life also show tell-tale signs of hypermobility and joint problems, and lots of food and drug sensitivities.

Who knows why this is, but based on my learning from The Mastocytosis Society Conference in 2012, I personally suspect a lot of MS is secondary due to demyelination from either (common) B12 or other nutritional deficiency issues, or mast cell activation disorders (or both!), since mast cells are known to “line” nerve fibers, if memory serves. (I’ll double check this, but feel free to let me know otherwise sooner, if you know accurately).

I personally think that all the systemic inflammation we experience from either likely leaky gut syndrome, or just plain food allergies (got IBS?) and sensitivities or MCAD of any kind may lead to this as Dr. Carnahan describes here. Again, I have no medical basis for saying this, it’s just my hunch and I welcome further exploration. But Dr. Diana Driscoll (fellow EDS patient and therapeutic optometrist) has been positing much the same theory about Mast Cells and autoimmune disorders on her great website for years now too. Along with the good folks at http://www.mastcellaware.com.

IBS

Speaking of Irritable Bowel Syndrome, aka IBS, I also suspect most with it, as they likely have either high allergy levels, or some form of MCAD or both (like myself) as do most EDS patients. (Almost all EDS patients react badly to anesthetics, both from over-sensitivity, and over-processing – i.e, we need way higher levels of the “caines” – Novocaine, Lidocaine etc.  – to feel any effect, and often get sick from general anesthesia, even days after an operation.)

I really don’t think there’s any such thing as “just” IBS. I think it’s all some variation on the afore-mentioned themes of food allergies and sensitivities, combined with a proclivity to dysmotility from impinged vagus nerves lending to some people’s high nausea rates, and chronic SIBO from weak ileo-cecal valves. So I personally suspect anyone with IBS too. Especially if they also have fibro, natch, which a majority seem to have also! And especially if they have any form of diffuse joint pain or repeated joint problems and allergies/sensitivities. (Sensing a theme I hope).

Chronic Pain sufferers of all kinds

One of the most tragic and detrimental misunderstandings EDS patients face is being accused of being drug-seekers due to our chronic and often severe connective tissue, joint and muscle pain from so many micro-tears, subluxations and insults. (We also bruise easily, fwiw). We can suffer from any and all forms of arthritis, neuropathy, neuralgias, radiculopathies, CRPS or RSD and fibromyalgia.

Alas, we look good “on paper” or scan, if you will, so doctors and nurses will often wrongly conclude we are just simply drug-seeking based on failure to see any gross joint or tendon displacements or tears, and sometimes even with them! Most minor subluxations will not show up on X-ray, and sometimes not even on MRI or CT even with contrast (to which many of us are allergic!) But let me tell you from experience they sure hurt like the dickens!

Thus begins the cycle of doctor-shopping in order to find any practitioner willing to treat our very legitimate complaints and chronic pain, leading to patients often having a long “history” of discarded doctors behind them in their desperate searches for proper treatment and recognition. I feel extremely lucky: I sensed early on that whatever I had was too mild to be taken seriously, and so I simply got on with my life the best I could (and was lucky to be able to), finding my true friends along the way who could understand my inability to “come out and play” as an adult as much as everyone else.

I also got a lot of counseling along the way that was validating, including some of the best I’ve ever experienced from Dr. Chino, one of the author’s of a great book I recommend: Validate Your Pain. It probably also helped that I asked for and attended a pain management class through my HMO over 7 years ago when I first suspected what I only knew as Hypermobility Syndrome at the time when I took out vertebrae T3-5 twisting while collating medical records of all things, not lifting, ironically.

My great LMT at the time first helped me to suspect this after 3 different practitioners who were treating me at the time all independently called me very “plastic”, smile, and the description fit to a T, but my PCP wouldn’t let me see the geneticist yet.

So I “sucked it up, buttercup” once again, got on with life, until my body demanded to be heard by falling completely and undeniably apart in early 2012 when you bet I needed some pain management! Thankfully my long-doubting doctor knew me well enough to know and believe me when I did break down and beg for some pain medication, and also knew I wouldn’t abuse it (I never came close, and now take almost nothing unless I “bust a move” as I’m wont to do on occasion in my attempts to strengthen and have a bit of a life).  Alas, not all are so”lucky” (or unlucky?) and are dismissed when they fall apart after many failed attempts to be believed.

But others have much more serious radiculopathies, neuropathies and neuralgias from their joints being misaligned and impinging nerves almost anywhere in the body, including the spine and sternum (yes, you can sublux your ribs in front, trust me! and yes it hurts!!)

Sciatica and chondromalacia of all kinds is common, along with costochondritis and herniations of all kinds, and every flavor of spine trouble and resulting pain you can imagine. (Spinal stenosis, spondylolisthesis, sciatica, bone spurs, you name it!)

We just don’t hold together!

 Just because a practitioner cannot see this on a scan or x-ray at any given point does not mean the pain isn’t very very real, alas.

I now believe many drug-addicted street kids and homeless people may be self-medicating undiagnosed zebras since meeting a few this last year. This is why I’m trying so hard to raise awareness for all – I believe we could save our medical (and possibly judicial) systems millions in misguided testing and needless patient suffering and doctor-shopping if we just suspected this condition much more often than we do.

Alas, this is apt to be an ongoing source of misunderstanding for too many for a long time to come since pain doesn’t “glow”, so can only be reported subjectively. I assure you, no EDS patient I know wants to be on pain meds, nor seeks to get high. They just want their pain properly managed as Zyp Czyk describes here. You don’t get high – and shouldn’t – if you are using opiates properly for true pain management.

And they need to be heard. Not that it’s any excuse, but is it any wonder we lose patience with our mis-informed and sometimes short-sighted doctors when we’re suffering so but just called depressed? That said, we patients need to be as patient as possible while helping to bring our doctors and nurses with us on our diagnostic journeys as already stated in another post. It’s just very hard when you’re hitting a 9 on the pain scale. (I figure I’ll never self-report a 10, smile. I start bawling at 7 myself. Yes I’m a wimp, and proud of it. I’ll also trade you bodies any day. Any day.

Anxiety and Depression and Autism spectrum

This category is apt to be somewhat controversial, as most mental health patients and sub-clinical autistics are quite sensitive to the labels.

Well, I’m sorry for your discomfort, but it’s emerging as an inescapable reality for virtually all EDS families in my observation on and offline in many support groups.

My own personal experience and that of virtually every EDSer I know involves some level of depression, anxiety, codependency and any or all of the alphabet soup (OCD, ADHD, SPD, PDDNOS, etc.) that comes with being a sub-clinical less visible (usually) highly verbal autistic person, if not being outright clinical.

All zebras I know are related to or know an autist, to my surprise, and the rest all battle the aforementioned alphabet soup until someone finally connects all those dots, if ever.

Again, who knows why, but this is my personal observation of thousands of people and their behaviors and complaints online, including my own! (I battled severe depression through my 20’s and into my 30’s).

I now strongly suspect myself of being a “Hidden Aspie” in 20/20 hindsight since falling down THIS rabbit hole when a fellow zebra asked me about it 2 years ago.

No, I’ll probably never get diagnosed – it’s much too costly and ineffective to attempt without a more “gross” presentation.  But all the tips and tricks for Asperger’s are working for me. Including strategies for coping with anxiety, stress, ADHD, etc. (Yes, I know that dx went away in the DSM-V but some still refer to it, as the group under the link I shared does.)

I also just discovered a blog post (October 2015) from someone else who agrees here. And found this article describing a case whose mother turned out unsurprisingly to have EDS here.

And for whatever reason, there seems to be a lot of narcissists in our families, who will gaslight and dismiss many of us, even though we are more physically or even grossly afflicted with HSD or EDS, etc. This lends to the challenge of being diagnosed, especially if you ARE autistic as well – who are often dismissed and gaslit in general, sadly.

I think this definitely adds to the difficulty in getting EDS and HSD diagnosed – some narcissistic patients will not even see a doctor, others are doctors and nurses themselves (there’s a pretty high rate of Hypermobility in the medical profession, I’m finding, no surprise) and can’t see the forest for the trees right in front of them, alas. (Denial is not a river in Egypt…)

Again, being dialectic will help tremendously here, as everyone starts to just allow for the possibility that this comorbidity exists. (Some may even benefit greatly from dialectical behavioral therapy accordingly.)

Meanwhile, autistic or not, I strongly suggest anyone battling anxiety and/or depression who is hypermobile (bendy) and experiences much pain at all look into EDS or Hypermobility Spectrum Disorders. Every zebra I’ve met in real life (IRL) exhibits fast thought and fast speech, high IQ (sometimes very), incredible creative talents (we’re some of the very best visual artists and musicians of all kinds out there, seriously!)

We’re all very hard-charging, driven, often codependent, Type “A” (or “ADHD”?) high achievers – until our bodies betray us. (Trust me, I was one too!)

And, hypermobile or not, if you have these traits, you’ll definitely benefit from addressing the resulting issues and finding proper support. Your family will thank you! Remember, we’re really not that rare. So you’re definitely not alone!

Lots of Allergies and Sensitivities

This last one should come as no surprise to the last category (people on the Autism Spectrum), because the community is rife with them.

We are the folks who have long long lists of drug and food allergies and sensitivities, often from birth, sometimes or even often severe.

A large number have hay fever and grass or pollen allergies of some kind, almost all have some form of skin presentation including eczema, or urticaria (hives) or even urticaria pigmentosa (a special persistent kind of hives that come with cutaneous Mastocytosis).

We are often allergic or sensitive to one or more anti-biotics, salicylates, legumes (peanuts) and tree nuts, the dye in children’s benadryl, aspirin, NSAIDs, corn and corn starch fillers in tablets (that one takes a while to find for many!), eggs, soy, and even chicken or turkey.

We’re the folks who are sensitive to perfumes and scents and chemicals of all kinds, including dryer sheet fumes, hair spray, paint, vinyl or gas fumes. We’re often prone to constipation, but can lose our cookies or need the loo (toilet) in a big hurry after just one bite, meal or drink of the wrong food. (Often diagnosed as IBS).

We may pass 0ut after eating certain allergens or triggers, appearing to just fall asleep, but our BP and breathing rate are really low if you look closely. (Though some will go into serious shock quickly too, alas.) We may test negative for many allergens on the RAST or even blood tests, but still react just as strongly (called “idiopathic anaphylaxis”) to some items just the same. (Blame this on the comorbid MCAD we’re just now getting doctors to recognize.)

We flush red easily especially on the face and neck and upper chest (aka the “mantle”), especially when stressed at all or even mildly warm. We may wake up choking on mucus at 3 a.m. or thereabouts from cyclical histamine sheds or dumps. (A sedating anti-histamine can really help a lot with this!) We can often “write” on our skin with a light scratch that turns red in less than a minute, and may even raise up a wheal (dermatographism). We are prone to skin rashes and spots of many kinds and places, again often urticaria (hives).

Lastly, we are the ones who may vomit for days after any surgery requiring anesthesia (in reaction to the anesthesia). Some require a serious protocol be in place before and during surgery to prevent an event on the table often involving steroids and or antihistamines.  If this is you or anyone you know, please look into Mastocytosis and MCAS and talk to your doctor! You should probably be carrying an epi-pen if you don’t already.

Summary

Again, these are all just my personal unprofessional theories on the matter. Please consult a knowledgeable doctor for your case, but bring them some of the latest info including the Brighton Diagnostic Criteria in case they aren’t up to date yet to help if you suspect yourself now.

But the more I observe in the support groups online, the more my likely “Aspie” pattern-seeking brain manages to file away in yet more categories. I’m not evening covering all the ways in which I suspect people, just some of the more common.

You’ll notice that in all cases, everyone has some signs of GI involvement, along with allergy or MCAD signs, hypermobility (even if stiff, you still sublux or injure easily), mood disorders, Fibromyalgia and most common of all: widespread,  chronic and unfortunately medically invisible pain of every kind.

We’re also finding virtually every diagnosed EDS patient and suspect EDSer can exhibit flying bird hand sign to some degree. It seems that even the least flexible zebras (of which Dr. Bravo himself is one – he says not all are bendy even as children) can bend their fingers back at the palmar (first) knuckle to varying degrees.

But don’t take my word for it. Start looking around. We’re the ones with the early onset varicose and spider veins, stretch marks in both boys and girls even at young ages, even if never large or pregnant. Often myopic (nearsighted, but not always), with crowded teeth and fallen arches, hemorrhoids, hernias and tendonitis and bursitis of all kinds.

We’ve just got to get our doctors to recognize that elephant in the room that everyone is touching, from the podiatrist to the neurosurgeon.  As Dr. Heidi Collins quoted some anonymous genius in her 2014 talk: If you can’t connect the issues, think connective tissues! May your journey be smooth and filled with understanding. The good news: though there’s technically no “cure” (being a genetic defect), there are some things we can do about it besides just sit and suffer! I did get to stop using my wheelchair so much in 2013 and now don’t at all in 2017. I’ll be sharing more on that later.     |When Else to Suspect Ehlers-Danlos Syndrome | Dr. Driscoll’s EDS Primer Video