The Ehlers-Danlos Syndromes (EDS)
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- เผยแพร่เมื่อ 16 มิ.ย. 2024
- An overview of the Ehlers-Danlos syndromes, including discussion on the classification, clinical presentation, diagnostic criteria, treatment, and prognosis.
Website of the Ehler-Danlos Society: www.ehlers-danlos.com/what-is...
Channel of Izzy Kornblau, a prolific TH-camr with EDS (great information from a patient's perspective): / izzykornblau
The 2017 International Classification of the Ehlers-Danlos syndromes (includes full diagnostic criteria): onlinelibrary.wiley.com/doi/f...
The existence of an association between EDS, dysautonomia (esp. POTS), and mast cell activation syndrome has been recently proposed. Its existence is controversial. Unfortunately, most of the relevant scientific literature is behind a paywell, but here are a few papers which are not:
Paper on the possible connection between dysautonomia and EDS: onlinelibrary.wiley.com/doi/1...
Paper on the possible connection between mast cell disorders and EDS: onlinelibrary.wiley.com/doi/1...
And a page from the Ehlers-Danlos society on mast cell disorders and how they might be associated with EDS: www.ehlers-danlos.com/2017-ed...
#EDS #Ehlers-Danlos
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Because this has come up in the comments more than once, and because I have seen misinformation about this online:
There is no genetic test for hypermobile EDS (i.e. the most common form of EDS); however there are genetic tests available for all other subtypes of EDS. This is because we do not yet know the gene (or genes) responsible for hEDS. If your doctor says that blood tests showed you have hypermobile EDS,, I'm not doubting that happened, but I really don't know what tests the doctor would be looking at...maybe that the genetic tests for other EDS subtypes were negative so they think you have hEDS by process of elimination? But that is not how hEDS should be diagnosed. It is a clinical diagnosis - meaning diagnosed on the basis of symptoms and medical complications, family history, and in particular, a physical exam consistent with the diagnosis. I would not consider it to be a so-called "diagnosis of exclusion" (i.e. diagnosed only after ruling out alternatives).
Update: The Norris Lab at MUSC found out about 20 percent of people in their hEDS study have a common gene variant. They are waiting for peer review before releasing results if the gene variant that they discovered.
They are hoping to pinpoint more genes underlying hEDS.
@@darilekron4590 I see that dated as 2021....wonder what happened? Actually, I'm reaching out to a member of that team for an update. Will post here when/if hear!
@@darilekron4590plz lmk🙏😭
@@darilekron4590have you heard anything since October last year perhaps?🙏🙏
I was diagnosed with hEDS when I was around 13. I was told I was just hyper mobile and it was pretty common. Nothing serious. I’m now 19, suffering heart problems, chronic fatigue, arthritis, scoliosis, chronic pain, vision loss, and dental issues. I don’t know what I have anymore and no longer have healthcare to get re evaluated. Wish that doctor had taken me more seriously.
I would love to talk to you. I have been ignored and dismissed by doctors for years. The good doctors I have came across have diagnosed me with things from Scheuerman’s disease and Osgood Slaters disease, I have suffered from nerve pain, chronic pain and now heart problems. Not to mention many other health issues. I’m so frustrated that I can’t get a good doctor to tie all my symptoms together.
That is rough 😕 Can I ask you about your vision? I’m experiencing problems too.
@@Itsyouactually I have a referral to the Mayo Clinic in Rochester. It’s taking forever to get the testing done to get there. I’m hoping beyond everything else that they will have answers for me. I get so down because of the pain. I’m not sure how people can be optimistic because I am not. Suffering stinks. I hope have a better outlook than I do!
Sounds like HEDS I have all the same issues haven’t been diagnosed yet but all my issues line up to yours
Ur doctors lied to u… you aren’t just hyper mobile even though that comes with it…. U are hyper mobile plus u have EDS syndrome I jahe all ur symptoms anf I am 99.9% sure I have this… I am 21 years old and suffering all this and it got worse starting at 20 but I’ve always had other symptoms leading up to this when I was little
For decades I was labeled as "clumsy" and "double jointed". After years of repeated injuries, ER trips and doctors that thought I needed "psychiatric care", I passed out at work on top of another employee I begged my primary doctor to find out what was wrong with me. That ER trip the doctor said I had an "atypical migraine"! That's it, no other explanation...on your way. My primary had her suspicions for years but sent me to a rheumatologist. I received my diagnosis at the age 36! I fought back my tears. That was more than 10 years ago. My symptoms have always been there but were manageable. A little under 3 years ago I dislocated my C1 and C2 for the first time. It's been all downhill since then. I can no longer work, I have days that I can no longer do my own personal care and I am now on serious pain management medications. And I'm not going to shy away from this but I HATE pain meds. They take away so much. But anyway.....This disease robbed me of my ability to have a baby (2 miscarriages), ultimately my uterus, the ability to make any plans, and it makes it hard for me to think positively about the future. I try my hardest and I put on a great smile but it's hard. Knowing that you will be dealing with it for the rest of your life is hard to picture. But I'm working hard to stay positive and upbeat while adapting my world around me to fit this disease into a full life. I hope that in the end I can look back and say that I did the best anyone could do under with this disability. Better days are ahead.....Have a great day and thank you for the video!
Thank you for sharing your experience. I've had the worst time with employment. There was a leave called FMLA for 12 weeks of leave (but not paid, unless you use any sick days you had and those would be paid). So obviously these things don't resolve in 12 weeks and I have yet another unexplained injury among other symptoms. Not only did they say not to come back, they want the sick days paid back! I don't know what caused things to get so bad. People are saying Covid related but who knows bc I've had signs for so many years. Hoping you're doing ok!
It took me 25 years to be diagnosed with EDS. Only after I developed severe dysautonomia/ MCAS and heart problems that almost killed me. I have so many comorbidities and I’m really shocked that I spent so long desperate for answers while having a textbook case of EDS.
I'm 25, and I'm like 99% I have EDS. Life long chronic fatigue (tardiness, sleeping in school even with full nights rest, adult diagnosed ADHD), developmental astigmatism that started when I was 7, and some knee/hip/shoulder issues as a cross country runner, chronic throat clearing, jaw clicking, insomnia.
The REALLY problematic and disabling stuff started when I was 21. Functional Dyspepsia was the first diagnosis. Medication and two weeks later, and I have a traumatic episode of tachycardia, chest pain, nerve pain, High blood pressure, vision, hearing dysautonomia, leading to an existential panic attack that I was dying.
The ER just said all the symptoms were caused by the panic attack/having been high on weed at the time. Yet, next day, sober as ever, all of the same symptoms and intense discomfort remained.
Following 4 years consisted of many more panic attacks, unproductive ER visits and blood tests, alcohol and sleeping pill addiction self medicating my chronic pain. A whole laundry list of other symptoms. Always being told by family friends and doctors that I'm depressed and have an anxiety disorder.
Well, been sober all 2022, tapering off my SNRI for anxiety. All the problems are still there, and many more! And although dysautonomic attacks still spike a lot of anxiety, I've learned to manage and reduce hitting full blown panic and other methods of reducing the dysautonomia until I pass out and sleep till morning.
Have appointments scheduled with a few different docs to seek diagnosis, but my family is still set that I have misdiagnosed mental problems and that my treatment lies entirely with therapy and psychology. Not saying more of that stuff wouldnt help, but they already have helped a ton with my mental health. but all the other stuff remains.
Im just done with people telling me I'm tired cause I'm depressed, and that all my symptoms are in my head and just anxiety.
maybe you didn’t had it broder
@@mateowm4224?
How old are you now if I may ask
@@olivialawrence2707 ime 43 soon to be 44
I knew nothing of this disease until I met a beautiful young woman who has it, she, unfortunately, has vEDS, and is wasting away at home bedridden, not getting the treatment and support she needs (the hospital sent her home to die). This is very difficult for the family to see her in this condition. Her life is being cut short by this disease, and too many have died because there isn't enough funding for the necessary research into it. Thank you for putting this information together and sharing it on this video.
❤
So sad
Thank you for normalizing the discussion of EDS. Roughly 10 years ago I spoke with my doctor as I have Hyper mobility in all leg joints in the form of dislocation, scholiosis, stretchy skin, bruising (and fibromyalgia runs in my family). Otherwise I am very healthy 🤣.
My doctor just told me 'I don't understand why you are here telling me you might have EDS, even if you did, it's only putting a grouped name against your other symptoms, naming it doesn't do anything' !!! And off I was sent feeling like I was a time waster.
Uggggh that is annoying! Those Drs. just are not helpful at all. I hope things will change.
Doctors gaslighting is discusting
I started going to the Dr for EDS symptoms when I was 14. I was diagnosed in 2020 at age 33. That should give you an idea of how confusing this area of medicine is. According to my genetic tests, meaning they were inconclusive, I have hEDS, but according to my symptoms I was told I am 1 of a couple hundred known people in the world who have some vascular symptoms without having vascular EDS. Basically this means I get all the crappy common symptoms as well as the chance that my heart will one day explode and I will die. If you are watching this video because you are frustrated with Drs, your body, or just plain confused, don't worry the rest of us are as well haha. Just be careful when getting recommended surgery or other "routine procedures." Stay in the best physical shape your body / pain tolerance will allow. Personally I exercise 6 days a week, but don't do heavy things like squats and deadlifts that may cause issues with my EDS. Personally, I stretch even though some Drs have told me not to. I do it because while stretching may weaken my "unrepairable tendons and joints" I also know what the pain of arthritis and inactivity feels like. (spoiler alert) They hurt much more than a little stretching. Hang in there everyone and good luck!
Because of your heart problems.. Have you been checked for Marfan syndrome?
@@florameadow I have been checked for Marfan syndrome. I just got the short end of the stick symptom wise lol.
You’re essentially on the same journey as me but I push my body to it’s extremes when exercising because I have chosen bodybuilding life.
THANK YOU!!! I was only diagnosed with fibro+hEDS a couple months ago, but I'm a teenager, so I was statistically lucky to get a diagnosis at all. I was constantly told that the pain was in my head, and that I was just flexible. When I learned about EDS, specifically hEDS, it was such a huge revelation. I really appreciate you pointing out the self-diagnosis struggles. Sometimes people are misinformed, but generally, we're looking for explanations for what we're going through, and in doing so, do very thorough research.
EDS is such a diverse condition, and it presents very differently in lots of people. Doctors and health specialists should definitely be informed more about conditions like it, and about chronic illnesses in general!!!
Omg help. I’m 18 and no one believes me . They say it’s just normal period cramping and my ovaries are fine but I get really bad serve bad and scored all of them on the chart. How did u move forward?
@@bianca1212 with period pain, you should check out endometriosis too
@@bianca1212 and Adenomyosis (like endometriosis but on the inside of the uterus)
Me too I just a couple months ago got diagnosed.
Anybody else feels like their ribs are slowly detaching from their sternums? No doctor has believed me and I've seen four so far. It's incredibly painful. Besides that I've got very translucent and weak teeth, myopia with astigmatism, strange dislocations and subluxations, intestinal problem, pots... I can go on, but I feel defeated by my doctors, none of them take me seriously. Last year a friend showed me an article on how to deal with the different symptoms of EDS by a mix of supplementation, diet, and exercises and it's been my go to. I've been able to deal with the extreme fatigues from the pots and I eliminated gluten and many high histamine foods from my diet so I haven't felt as weak since. Also the gradual strength exercises help with some of the joint pains. Honestly I feel like I have my life back, but I still have issues because nobody believes my pains, especially the feeling of my ribs detaching from my sternum, there doesn't seem to be anything I can do to keep that from deteriorating.
OMG! Finally someone that believes me!
I can literally move my ribs around with my hand, I don’t think they’re attached to each other in front anymore and they pop behind each other sometimes it’s such a weird feeling!
called slipping ribs syndrome.one or two lower ribs slip in front or behind the lower ones.usually when you bend over like sitting down and bending to put your shoes on.they usually pop back easily but take care and don't panic if they sometimes get stuck. just gentle manipulation sorts it out. hurts like hell though. don't ever be put off by ignorant doctors. your health could be at risk. you might not know what's happening but you have had to. deal with your body all your life, and you know it better than anyone.
My father's side of the family has passed away around 40-50 with heart issues... There was testing for Marfan's but given these symptoms, I'm chatting with a doctor about possibly having vEDS in the family. Thank you so much for this video.
Any diagnose yet?
I was told Mafans and Eds are related.
I have spent 20 years searching for help ! Once I was diagnosed my life have changed for better , therapy full-time awareness on how my anatomy works, nutrition, rehabilitation, and the most important thing is to have people around you who are positive and supporting you on journey to recovery! Hope you can find the support you need ! Love to all 💕
I just randomly read an article about this and I believe this is what my problems are from. I’ve always been hyper mobile, my joints loudly pop all day, my hips slip in the socket. I can apply sunless tanner to my entire back no problem, do praying hands mid back. I also have pale translucent skin, skin that stretches, low blood pressure, vain’s that leak, heart palpitations, I’m losing the cartilage in my big toe (hallux rigidus) my low back feels like it’s filled with broken glass. My hip labrum is separating and frayed. I have severe spinal stenosis amongst other injuries. I’ve sprained my ankles more times than I can count and starting to get torn muscles more often. I’ll go to the doctor asap but this is crazy to finally hear about this.
Was it the article on CNN.com?
@@StrongMed I’m not sure actually, it was on my news feed yesterday.
It sure sounds as though you have it. Hopefully you are getting some medical help.
Can collagen supplements help?
This is the most validating video I've ever heard on EDS. That you're a doctor, acknowledging these things, is very comforting to me after my journey with EDS thus far.
I’ve experienced chronic pain since I was 11 or 12 and was told by EVERYONE I was seeking attention or medication. I got diagnosed with osteogenesis imperfecta this year type 1 and when I brought up my hyper mobility and chronic pain and my concern I may also have hEDS I was told I didn’t know what I was talking about it wasn’t until I managed to get in a pain clinic that a doctor listened and believed me he mentioned it before I did and is now working on treatments for me I’m 25 it took over a decade to receive help. I say all this because if you’re reading this and feeling like no one believes you don’t give up I know it’s so so difficult but advocate for yourself and don’t take I don’t knows and “maybe try exercising” as an answer you deserve treatment
I think my daughter and I got extremely lucky. We went to a regular, well child check-up and the new, young, PA that we saw immediately put referrals in for rheumatology to check for hEDS. Which she has now been diagnosed with. Going to cardiologist this week. Reading these comments, I can see that many people haven't been so lucky. Mind you, my daughter has been complaining of pain for years. We were told she was having growing pains. As much pain as she had, she should be around 10 feet tall! But, I feel like things are moving quickly now!!
reading this made me tear up thank you for listening to your daughter. I have only just recently been diagnosed with hEDS at 25 and for my entire childhood I complained of pains and was always told it was something like growing pains and never taken seriously. I understand how hard it can be sometimes to know how seriously to take children at their word when they're talking about being in a lot of pain, but I thought having severe pain 24/7 was normal for my entire life because of it. I'm so happy your daughter has such a wonderful parent looking out for her and listening to what she's saying
@@SlapHappyPantsyes, I get what you're going through. I'm 70 and wasn't diagnosed until I was 50. My childhood was agony.
Awesome, I just had this case about one month ago. Love you channel. You are a great resource. Thanks
Thanks for these series. Great as always!
Thanks! I use this video to help people understand my diagnosis! Brief and informative!
Thank you, Dr Strong! As a diagnosed hypermobile EDS individual, I’m so grateful for your advocacy. It’s such a challenging disease to live with at this time.
Me to diagnosed yesterday 43 comers with Asperger's add to do you have pain everyday
Same!! It's nice to see other people like me :)
My girlfriend has this and I'm trying to learn more about it. 😢
What a sweetheart. I asked the last guy I dated to read about it because he kept dismissing my symptoms, he didn’t bother. I had to cut him off.
God bless you! She’s lucky to have you!
My boyfriend has it and I’m doing the same thing 🫂
Fantastically laid out and helpful information. Thank you!!
I have hEDS and was very lucky, I got diagnosed when I was in around 2-3 grade. I have chronic pain and chronic fatigue, Hypermobile, but I’ve been in weekly pt for years so I’m not as flexible. It’s really nice to see someone kinda show it exists, it’s very unpopular. (Here is the list of things I can remember that I’m diagnosed with, this will be funnnn 😅- adhd, asd, ocd, depression, on track to POTS, pain, fatigue, anxiety, and I’m sure there is stuff I’m forgetting as well…., but basically it affects everywhere and anywhere of/on your body.) For others going through things like this, you can make it through, we are here for you, and even when it’s hard, you are strong
It's so nice of you to share your experiences ❤️
My daughter has the same diagnoses that you do. 2nd or 3rd grade is amazing to get a diagnosis.
@@randyfunk8312 I don’t have an official diagnosis (can’t until the age I currently just turned, appointment relating to it soon), but I am pretty impressed myself
How do you manage the symptoms ?
@@nickboylan161 it is awful honestly, my mother won’t allow me to be on pain meds. I go to therapy, physical therapy, lots of doctors, meds for my mental things, speech therapy, the list goes on
I just got diagnosed by my doctor but even though I live in a major city, Vancouver British Columbia, there are no genetic clinics accepting family doctor referral. I've heard of only one specialist that might be able to refer people but they are located in another city. It's heart breaking how little support there is. I just want to be able to keep living my life normally, maybe be a mom one day.
I got diagnosed with hEDS in 2021 and the person who diagnosed me said well its no big deal and run out the room. I got my diagnosis reconfirmed a year later by a specialist and walked out with a bunch of referrals and I am now waiting on my wheelchair for my EDS.
Great explanation! I look forward to pointing people this direction and saving myself some yammering.
I want to specifically thank you for calling out the problem of the "trendy diagnosis/self-misdiagnosis" assumption. Certainly, self-misdiagnosis exists and can be a very challenging problem for patients and physicians alike. It's also a breath of fresh air to hear a non-EDS-specialist physician admit there is a bias growing in medicine against EDS as a condition and (to a point) against EDS patients. That bias is why it took me years to be diagnosed with hEDS, and is why I am still treated poorly by some healthcare professionals. It's good to hear it's not imaginary, as is so often implied.
I am being sent to the geneticist at mount sinai sometime soon but am waiting for them to call back which can be months. My spine joints are hyper mobile/popping and subluxing a lot and my wrist and shoulder are as well. Absolute pain in the butt. I start PT next week. Therapists who knows hyper mobility but not Eds. I wish you all the best as this disorder is not taken seriously enough and this country healthcare system needs to do better.
If you only have hypermobility type it will not show up on genetic testing, that is diagnosed clinically by presentation of symptoms.
Very informative video, thank you!
Thank you for presenting information on this condition.
I really hope that there will be an updated diagnostic criteria becasue EDS Is the most similiar to whatever undignosed condition I have with several co-morbidities. It is quite frustrating as the connective tissue dissorder that I do have is qutie debilitating so it would be nice to be able to know for certain if it is EDS Or something else
Wish me luck. I'm one of those ppl on the internet that saw EDS videos and kept feeling "somehow this talks about me!". It's just ... I do possibly have some of the joint hypermobility by definitely not all. I have actually successfully "self-diagnosed" and then professionally confirmed two other diagnoses before. And I've heard of many things so far, but just like the other two diagnoses, EDS oddly rings sth. with me. The effects on patient's lives ring very true to me. And I've learned before, that it's a bad idea to not listen to myself.
I have a really good family doc. So I'll just bring him the list of my observations and ask him what he knows about EDS AND anything else that may have similar presentation. And as him if he knows any place I could get referred to, to possibly figure out what is going on. Because whatever the cause .... I'm struggling. And what I need the most is not even "a cure" or "a fix", but rather: an understanding what is going on, what to be cautious about and what supportive things might make managing this a bit more purposeful. Cause I'm "managing" it either way!
According to my sister, EDS runs in my family and that explains where I got it from. I have Classical EDS type two. My dad is showing signs of EDS and my mom had Osteogenesis Imperfecta and from research, the genetics that’s responsible for Osteogenesis is also responsible for Classical EDS. My sister has O.I. And I have EDS. I was able to do these as a little child but I’m older now. I have the signs of Classical, and my Neurologist saw it in me. I am hyper mobile in my fingers and my hands, I can’t bend my thumb like the regular way that is typically seen by the test, I can do it backwards. Ugh. The chronic pain is so Unbearable and very annoying when it wakes me up from a peaceful sleep!
Very informative thank you!
I was recently diagnosed with hEDS at age 15. I’m very grateful that I was diagnosed so early. I’m mostly just concerned about what my future will look like- I want to be a doctor, but I worry about what my pain and mobility will be like as an adult. I am already in pain a lot of the time, either from my joints/muscles or from heartburn.
I found it interesting how much my doctor found abnormal during my diagnosis that I thought everyone had. I didn’t know that feet were supposed to have arches when you’re standing on them. I didn’t know that other people don’t have skin as stretchy as mine. I was shocked that my thumbs sticking out past my palms when I make a fist isn’t the same as everyone else’s. My dad was also shocked by some of these features, as he also displays them, although he has no hEDS diagnosis nor any need to see a doctor about this.
My genetic test came back negative for all other subtypes of EDS, but it did say that I am a carrier of dermatosparaxis EDS. I’m not sure if there’s a link between carrying another form of EDS and having hEDS, but I’d be interested in learning more.
Diagnosed at 32 ,18 years ago. Got much better treated for a long time but now it seems some things going backwards. Leave it a small country with not much alternatives . Thank you for the video. Good one.
This is probably the best, most all encompassing in information and understanding of the complexities for both patients and physicians medical summaries I've ever watched truely, 💛🥲🦓 Thank you So Much from the EDS and greater N.O.R.D. 'Zebra community' for bringing compassionate and comprehensive awareness! You are awesome Doc! 💛💪😇GOD Bless you !
Great video!!
I was diagnosed with hEDS at 5 years old and this last year I was diagnosed with POTS
Thanks for the contribution. I also suffer from the EDS syndrome, along with other diseases (chronic idiopathic pancreatitis, pancreatic duct anomaly, pancreatic insufficiency, pancreatic cyst, gastroparesis, extreme mesenteric artery compression syndrome, heart valve insufficiency, coronary buttock spasms). I have been tube fed for 14 years and oral feeding is no longer possible. A proportion of patients who suffer from EDS also have a comorbidity with a compression syndrome in the intestine (there are various e.g. the mesenteric artery compression syndrome, Dunbar syndrome, nutcracker, May-Turner, etc.). This is shown, among other things, by pain after oral intake of food, some cardiovascular problems, etc. Unfortunately, the knowledge of this correlation/comorbidity is not widespread. There is a scientific paper on it in Researchgate. Unfortunately, since the knowledge of this comorbidity is not widespread, I wanted to post the comment/note here, maybe this information will help someone
i think you just solved my problem. thank you
Hi, I have friend who suffers from weird GI symptoms with a host of genetic issues and a COL gene mutation. are there any compression syndromes in the intestines that you know of? Thank you.
@@user-no2ez9qw5w Hello, Yes. I know about the : Arteria-mesenterica-superior-Syndrom. But there also some others like the May-Thurner Syndrom and Nutcracker Syndrome. It would be important to look for a MD who knows about these compressionssyndroms. Unfortunately most doctors do not know about it. If you need an address here in Europe I can tell you some names of great specialists. All the best and if you have any questions, please feel free to ask, Alice Goldenberg
Good video. Thanks.
There's one part of the video I have a question about. Particularly it's around 7:19 where you say that a criteria for the hEDS diagnosis is that there is no other diagnosis which could explain hypermibility, such as marfan syndrome. I personally know someone who has both diagnosises and don't understand in how having one illness would mean you cannot have the other? Wouldn't it rather be so that it's super important to examine closely, if the symptoms of both illnesses are given? I would love an elaboration on this.
On another note I want to thank you for this educative content. I want to learn about EDS so I can support this person in my life better, and this is a good place to start for me. So thank you.
I'll note here that fibromyalgia is often either a comorbidity of EDS, or sometimes a misdiagnosis.
I was referred to a specialist but still waiting hopefully soon
Do LARGE Vericose Veins and bad cellulite have any correlation with this?
Found it interesting that your thumbnail is a trick I can do, but isn't on the diagnostic test I don't meet the qualifications of. I think if I got a proper diagnosis it would be hypermobillity spectrum disorder or regional joint hypermobillity.
great vid
I was initially diagnosed with benign hypermobility. Which, medically to everyone that saw it, including myself as an occupational therapist meant nothing. He might as well diagnosed me with nothing. I went in thinking I had fibromyalgia. He pushed on all the pressure points, and they were never reactive. Meaning to me I did not have fibromyalgia. He confirmed to me stating you do not have fibromyalgia. However, it’s in my charts to this date because he coded it into my documents with my billing. I’ve been diagnosed with EDS.
I had never heard about this until a few days ago, it explains so much of why my body just doesn’t like me lol, it was my sons dentist that suggested that I get tested for it, so I’m off to the doctor in a few days to get the genetic test
Remember that there is no genetic test for the most common form of EDS (hypermobile); there are only genetic tests for the other forms (e.g. classical, vascular, etc..)
I ran across this syndrome while looking into pectus excavatum, which I had as a child. The sunken chest has largely resolved as I grew. I was told I was double jointed, my thumbs can bend backwards much further than most people, and while seemingly not as significant as my younger years, used to be able to bend my fingers almost 90 degrees backwards. Reverse paralleling my feet like a ballet dancer is easy. Elbows don't bend negatively at all but I think my knees are a bit negative, and joint pain, predominantly in the knees is common. I'm wondering if this is what I've been suffering from along with Lyme for decades.
i think i was pretty lucky that i was diagnosed with eds at 11 , my first doctor thought that I was in depression and that I had anxiety attacks, all my life even since my birth I had lots of joint and vascular problems, with puberty everything became more complicated I don't even have the strength to get up in the morning
I have EDS and also, May-Thurner Syndrome (as well as other conditions). I have come across others who have both and recently found a website that states that they are related, but I'm curious what the relation could be. I can't seem to find any information on it, though.
I had not previously heard of any connection between the two, but just did a literature search and found this case report that discusses cases in which EDS and abdominal compression syndromes (including May-Thurner) coexisted: onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31949 . Unfortunately, everything but the article's abstract is behind a paywall, but the gist is that the coexistence of the two occur at rates much higher than chance alone would predict if they were not related.
I have lipedema and possibly eds and now I wanna read about your may-thurner syndrome
Thanks
It should be mentioned that although joints may stiffen with age, many hypermobile people have injuries sustained due to ligament laxity that leaves joints - particularly the ankles and knees - with increased instability that can worsen with age and often requires prosthetic bracing to prevent falls and serious injuries.
There is people who have MS and they don’t get accurately diagnosed ,due to Doctors not being educated enough about these things , autoimmune diseases, hypermobility problems, and EDS , Doctors may need to go back to School, there have been dozens of people trying to get diagnosed for MS. Lupus, other autoimmune disorders 🙏❤️
im in severe pain all the time and everytime i go to the er i can never find out whats wrong. i also might have pots because i almost faint everytime i stand up. i just wish i could live life pain free :( im only 16
I can touch my wrist with my thumb, bend fingers a little past 90 degrees, and place my hands together behind my shoulder blades. But i can't say I've had any noticeable discomforts. I've been told I walk funny and everything pops and cracks but nothing painful.
Diagnosed cEDS at age 40. Many years being told "lose weight and you'll be better, take antidepressants you're just depressed". It has been hard. I have so much damage and pain and exhaustion. But the worst by far was not being believed by family and the doctors. Its very much a self managed condition imo.
I think I might have hEDS after becoming aware of just how hyper mobile I am after asking my doctor to put me in PT to help me learn how to walk without pain after a short distance. I was first directed to Hypermobility spectrum disorder by my PT and the google rabbit hole helped me find hEDS. The biggest difference between which one u have is basically just because they r extra strict with the hEDS diagnosis was what I concluded. Because of the family history in criteria 2. So idk which I have but I need to figure it out because I didn’t know hEDS was THAT serious til I watched this video
My Dr just told me about this we're doing testing .. like always but she took everything I had to say and listened .. shoe seems to fit though .. so not in my head... So what now ?
I'm 64 now and I strongly believe that I have the hypermobile EDS. I unfortunately don't live near where I can be examined by specialists. But all my life I have been flexible all over. Getting stiffer with arthritis is painful but it seems that my joints aren't as floppy. Ive had mitral valve repair in 2005 at the Mayo clinic. I have a slightly enlarged heart and back pain because my SI joints like to slip out of place. All doctors don't listen to me or dismiss me. I am so sure that a genetic study would confirm this. I had a heart attack in 2021 that was not typical. It was called the broken heart syndrome but really nothing was done to treat me. I kept getting medicines for the typical clogged up arteries. Mine are clear. In any case I have had to advocate strongly for my health because it seems like I get treated like a prima Donna and dismissed because when I make a suggestion about what this could be I'm told I am too old for a study. 😢 I would like to have a study done but how?
I'm sorry to hear about your health and experiences with the American healthcare system. Unfortunately, there actually is no genetic test for hypermobile EDS. While few experts if any doubt a genetic cause, the gene (or genes) responsible have not yet been identified, which is kind of weird since all other forms of EDS (including ones far far rarer) do have established genetic tests. To me, this suggests that the underlying mechanism of hEDS is potentially something quite novel that researchers haven't yet discovered because they don't know exactly how to look for it.
A diagnosis of hEDS really just requires a good history and physical exam performed by someone with expertise in the disease, which can be hard to find in many parts of the country.
@@StrongMed
The Norris Lab at MUSC has a large study of hEDS participants and has found a gene variant for about 20 percent of people in the study. They're hoping to pinpoint other gene variants.
Results are being peer reviewed now. Hopefully their findings will be released soon.
Thank you very much Dr Strong, wonderful lecture. Very informative, few year back I ran into a case, she showed me how she could bend finger but I was limited to ask any more feathers, not much in text either. This is great lecture.
Are you a doctor? If so where are you located?
I can do all of the Heds except i dont think my elbow does that??
I can do the praying hands but when i do, my hands are down not up. Would you know if this will qualify or no?
Some people cant afford to go a specialist. On top of that they have to fly or drive and that cost even more.
My hips and knees pops but ever sense turning 36 it hasnt gotten worst. I jogged from the gas pump to the door and felt if my left hip was about to give out. A few weeks ago i felt my right femur head almost came out of its socket. I even bruise easily. I have a few on my right leg and i have no idea how they got there. I also suffer from stiffness. Sometimes my back is so stiff its hard to get up from the ground. I can also turn my feet all the way around where my feet points behind me. (Not at the same time)
Same with my left and
right foot. I can turn them towards my right and its the same with my left. I can also bend my fingers joint backwards.
I have hEDS with multiple comorbidities. Global dysmotility, dysautonomia, osteoarthritis, pulmonary artery enlargement and multiple heart valve regurgitation, scoliosis/lordosis/kyphosis, neurogenic bladder with urinary retention as well as muscle issues plus a whole host of other things. EDS sucks is my point.
I knew I've noticed i had hypermibile eds since about 13 but my doctor doesn't take me seriously. Now 40, i have constant joint pain, muscle pain, shoulders popping, high blood pressure, chest pain etc i don't know what to do or where to start our who to see about it. My doctor said i need to "toughen up"
But what matters is what’s happening in the body. What’s happening with the chemistry of the body.
I finally got diagnosed with this on Monday after realising I had it last year and having it for 25 years
I have severe HEDS. It sucks. Sucks. The poor healing, the pain...Don't forget...
A study in Exeter found a HEDS family that also carried the COL3A1 gene. Conventional thinking says this doesn't happen.
Further to this, HEDS bodies often have TNXB issues. Tennascin X is a protein between the collagen cells.
Having TNXB can open HEDS body to more issues that can asking to VEDS - vascular involvement.
The figure of 1:10,000 that he gave here?
Some good sources say as many as 1:2500, but recognition of EDS is often poor, hence it could be much more common.
The 1:10,000 figure...I haven't seen that figure. Maybe it's a US thing?
Im 47. And was just diagnosed in 2020.. ive been diagnosed with classical after all else was ruled. Out and. Tested for.
How to diagnose it.. I have all symptom's.. Is there any genetic test..
@@yedhukrishnan6326 for some forms of ehlers danlos yes, you wil need to see a genetics specialist.
i have thissss and i also am late diagnosed autistic and have ADHD. all of these are comorbid i had no idea.
Just got doagnosed with eds, i belive typical but the orthopedic only seen me for like five minutes. Its crappy because i have high tendencys to dislocate limbs. I also suffer from pain, some days are better then others. Atm i am 18 and after years of being labeled double jointed or, "growing pains" i finally got someone to listen to me. Now we just have to get genetic testibg and my heart checked.
Everything about the presentation is very informative and interesting! However, I am not happy to see two base-line yogic postures parading as examples of EDS: The "reverse Namaste" and the forward fold. Almost any practitioner of yoga can do these after a couple of years of regular practice. It is misleading to insinuate that a person has EDS if they can do these two. Maybe you should consider to take them out! Thank you for a well-done presentation overall!
I appreciate the feedback. In extreme brief, the issue is whether a person can perform these positions without training or practice. There's at least one paper that discusses the "reverse Namaskar" sign as a potential sign of EDS: www.ncbi.nlm.nih.gov/pmc/articles/PMC2856381/
In medicine, virtually no physical signs are diagnostic of a particular disease; they almost all require the correct clinical context. No doctor is going to assume that a long-term practitioner of yoga has EDS on the basis of them being able to hold these positions.
Im 55 and looking back can now attribute hEDS to chronic lifelong pain, infertility, skin problems, 2 lower back spinal fusions, and dislocations…(knees multiple times, shoulders and elbows) as a child, easy bruising, multiple spraines and strains, and daily painful subluxations….wish i knew this dx 35 years ago…..it all makes so much sense now.
Question for other EDS peeps here, Have you had issues conceiving? I've been trying for 7 years, and only recently read that EDS is linked to infertility.
This scares me so much, I am the husband and my wife just got diagnosed yesterday for EDS. We think its hEDS but not sure yet and we have heard of the troubles having a child and its a huge crushing blow to our hopes of having a family one day. I am wishing you the best in your journey to one day having a child as well, and hope we both have a great luck moving forward.
My Neuro say she believes I have hyper mobility . Had a hysterectomy at 27 . My uterus fell over. I’ve had ankle , knee, shoulder and know neck surgery bc I keep injuring myself with simple thing like picking up a small plant.Pulled elbow. I lost large intestine due to paralysis .
To have the test is not covered.
Eds caused my pelvis to shatter when pregnant 😞 Also arthritis in my spine it’s an awful thing to live with
Oh my goshhhhh how are you doing now I’m so sorry
there is surgery to help with that. some use walkers/wheelchairs.
idk if i can have but I can do the hand thing in the cover
Does anyone here have the same problems as me? So, if i wear a t-shirt with short sleeves in the summer i get elbow pain. And in winter i get wrist pain when it gets windy. I only need to open my window briefly and i get wrist pain. I will be tested for EDS but is it the same for you? because when I tell people this they think I'm crazy...
I apologize for my grammar, english is my second language
My doctor refuses to diagnose me even though I meet TONS of the criteria including having four family members with it. Hyper mobility in most of my joints you can trace my veins all through my body I bruise super easy and heal slow and even IVs leave scars I also have an issue with minor scoliosis and other spinal alignment issues I wasn't born with and have even dislocated one of my shoulders just trying to get something off a shelf at the store and sprained an ankle just walking on flat pavement my skin tears and sheers easily I have a number of GI issues including reoccurring diverticulitis (I'm only 30) IV lines are difficult to get because my veins blow easily. It takes an IV poke 12 or so days to heal and the scab to fall off and that's with a pediatric needle and sores often split back open multiple times before they heal completely and scar over and I'm CONSTANTLY AND PAINFULLY popping snapping cracking and grinding at the joints and it HURTS and I sometimes fall because of it and end up covered in some pretty nasty bruises that take WEEKS to go away. I also have neuropathy really bad in my feet and hands now to.
To add to this I have a number of other issues with vision skin issues etc but those are the main ones.
Update FINALLY GOT A DIAGNOSIS. I've had TMJ sense I was 8 so you'd think that that of all things would have raised a red flag
My joints all now subluxate 😮💨
I think I might have a mild form of EDS. Hyper-mobile joints, skin with stretch marks, and possible dysautonomia. Interestingly, I learned about this disorder at a genetics counseling clinic.
Sounds like Hypermobility Spectrum Disorder, which is the next step down from EDS.
Hello, do you have digestive issues? If so what kind ? 🙏
@@RealZayComo I do have digestive issues. I have Gastroparesis and Gastritis
@@beauxsbooks do you have lower abdominal bloating, fullness daily ? 🙏
@@RealZayComo yeah those are some of the symptoms I get
I was diagnosed at 48
Having my 7th surgery soon. I had both knees and shoulders stabilized with anchors and donor ligaments. H-eds sure isn't fun.
I still get sore if I sleep wrong or stretch too far. But nothing like the pain of constantly subluxing or dislocating. I'm still off work until the end of March from my spine surgery. They took out 3 disks that were about to cut through my spinal cord. They put donor bone in to fill the spots.
@@theSD7 I'm not pain free by any means. I still have osteoarthritis, and numbness and weakness. Degenerative disk disease, and damaged spinal cord
My hypothesis as to potential cause of non-genetic/unknown genetics (supposedly 90% of cases) EDS:
Eds seems to most strongly be linked to mast cell problems. This would make sense because mc can effect collagen synthesis. I’m going one step further to conjecture that mast cells not only participate in tissue healing, but also in tissue generation in human development. Not only is the same kind of tissue created obviously, but mast cells increase with growth hormone, which seems a bit unusual for a supposedly immune only cell. So it could be they are part of normal physiology and growth as well, not only acting as repair cells.
The next ingredient seems to be a common one, the low amount of research going into a quite common mystery disease. Which probably points to a drug-induced cause.
Ibuprofen, aspirin and some other NSAIDs suppress mast cell degranulation. This may directly (lack of modulatory, timed factors) or indirectly (burst of ill timed activity to make up for suppression) degrade collagen synthesis. Not just delay wound healing. Alternatively/additionally, NSAIDs also directly alter collagen synthesis, which then further messes with mast cell participation in the process.
Of course this would be simple to disprove if EDS patients without genetic cause had symptoms before ever taking NSAIDs.
Some more hints that mast cells are not just involved in immune regulation: ghr hormone makes mast cells release serotonin. Dopamine increases mast cell degranulation, and mast cells can also release dopamine. Mast cells regulate endothelin levels in GI. Mast cells trigger ovulation. Regulate other GI functions. Mast cells produce melatonin regularly.
Ibuprofen upregulates expressions of matrix metalloproteinase-1, -8, -9, and -13 without affecting expressions of types I and III collagen in tendon cells, 2009.
Mast cell disorders in Ehlers-Danlos syndrome, 2017
Neuroendocrinology of mast cells: Challenges and controversies, 2017 (IGF1 growth)
Dual effects of acetylsalicylic acid on mast cell degranulation, expression of cyclooxygenase-2 and release of pro-inflammatory cytokines, 2004
(Aspirin inhibits mast cells)
I have been diagnosed with hyper mobility and I have been referred to Rhumatology. I bruise easily and muscle in hand in between thumb and finger has popped out pain in sternum and orthorpedicts say I have nodules in knuckles and they look red inflamed and I have tremor in hands and severe pain/ stiffness in neck and shoulders every morning and also today found muscle next to sternum pop out more now and deformed chest wall seen an orthorpedict yesterday who referred me to rhumetplogy and explained I might have something geneticly etc but wouldn’t explain what he thought
Brighton score 9
I know your comment is 7 months old BUT OMG I have been trying to find out whats wrong with me and I have IDENTICAL symptoms. I bruise so easily, I am currently covered in huge dark bruises on arms and legs. I even had a bruise on the sole of my foot smh. For 2 months the fat pad on my palm where my thumb is has been swollen, my forearm and hand is weak, and I can see blue veins all throughout the palms of my hands. I have rib & sternum pain with swelling as well in my upper chest wall around 1st rib. All my scans so no tumor but cant tell me what it is. I am hoping its not a bulging artery. I have hand tremors now and then with severe hip pain and shoulder pain like they are going to dislocate. Yesterday I felt a hard part in my sternum it feels like its poking out more than the other side and a tad sore. I also have flat feet, tall & slim but recently lost 40 lbs in 4 months and I eat 3 meals a day. I can do the praying hands behind my back and I have poor bladder control. I am really starting to think after a year, I know whats wrong with me. I have vascular issues as well which is the scary part.
Do you have hyper mobility? I have now been diagnosed with HEDS, arthritis and scoliosis of the spine and much more all I did was switch doctors and was referred to rheumatology and neurology and everything is running swiftly with diagnosis
Deformed chest wall,ask about Marfans Syndrome ?
Can collagen supplements help?
I have a friend with EDS. She is 46. Various material on the internet says that the average age for someone with EDS is 48. How will the end be like? I would like to be ready to support her in any way I can.
In brief, the different subtypes of EDS have different prognoses. Of the 3 most common subtypes, hypermobile and classical EDS predominantly are at risk of developing musculoskeletal complications and chronic pain, but have normal or near-normal life expectancy. Patients with vascular EDS are at a much higher risk of a catastrophic complication such as an arterial rupture. To support your friend, the best thing is to explain that you are there for her and to ask her what she needs.
@@StrongMed Thank you kindly.
Ehlers is pronounced “Ellers”.
Can collagen supplements help?
Unfortunately, there is no evidence that collagen supplements help any form of EDS.
My three sisters and I all have EDS. Would be open for doing studies I’m in LA.
Hello, do you have digestive issues? If so what kind ? 🙏
@@RealZayComo Gastroparesis, & Chronic Acid Reflux are common.
@@RealZayComo
I had chronic intestinal cramping before I started Intermittent fasting and reduced grains. My cramping is probably connected to inflammation due to overactive mast cells but is almost entirely gone since starting I.F.
Can Collagen supplements help ?
How can I find if I have it?
You need to see a physician in person who can examine you and who is familiar with the diagnostic criteria.
Ok thanks
If I am hyper mobile does this mean I have EDS?
Most individuals who are hypermobile do not satisfy the clinical criteria for EDS. You need to be assessed and examined in person by a physician familiar with EDS in order to determine if you have the diagnosis.
I was told that because EDS isn’t curable that there was no point in getting diagnosed 🙄 idk why the gp said that, i have since seen a rheumatologist where I scored 9 on the Beighton test, I have had chronic pain and many other issues which I feel have been completely disregarded. I saw a new gp who googled EDS infront of me which is never a good sign lol 🤦🏻♀️
I'm back. I'd like to represent myself today and why they should back off the hazel eyes. Thanks.
So. Am i gonna be crippled to a wheel chair. Like my mom.and sisters???
this video makes me understand why the doctors thought my bendiness was so interesting lol
Would a Neurologist diagnosis this? Rheumatology?
Unfortunately, most types of EDS falls into the cracks between specialties. In other words, there is no specialty in which every doctor feels comfortable diagnosing and treating patients with EDS. If a patient believes they have hypermobile or classical EDS, probably the best bet is to use social media to find other patients in the same geographic area who have had success with a specific doctor. Other subtypes like vascular EDS are nuanced and dangerous enough that seeking care at a university-affiliated academic medical center is probably best, if that's an option.
@@StrongMed Thank you..
Why are so many doctors afraid to fully engage or diagnose EDS?
Even when symptoms point towards it ?
@@apacur For most clinicians, I'd say that It's more that EDS is poorly covered in training, so many feel like it falls too far outside their expertise. (This is why I chose EDS to include in this series for doctors in training called "underappreciated diseases!").
And with hEDS and cEDS, they do fall within the cracks between specialties. Patients have prominent joint symptoms which makes it seem like a rheumatology issue, but rheumatologists focus on immune system dysregulation, which is not a primary mechanism of pathology in EDS. The closest analogy might be something like Marfan syndrome, which is closest to being a "cardiovascular disease", but many community cardiologists refer cases to academic centers with Marfan specialists.
Also, to be fully transparent, there is a common belief among docs that a non-negligible subset of patients who seek care for EDS have self-diagnosed it, do not actually have EDS, and are unwilling to consider that there is an alternative explanation for their symptoms - labeling such suggestions as "medical gaslighting". I have not personally encountered such a patient, but stories of the phenomenon show up periodically on medical-themed subreddits. So I think some physicians are hesitant to see new "EDS patients" out of concern the patient may be of that phenotype.
What are the short or long term damages?
Short term? joint pain/dislocation Long term? Organ tearing i.e stomach
@@AliSalman2889 Hello, thanks for your response, the product was introduced through my nostrils, I did not ingest it through the mouth.
TRENDY??? No. Its painful and sucks. I was confirmed by genetic testing.
I was dx with hEDS 5 yrs ago but I have experienced severe ecchymosis since and I'm concerned about clEDS. Like I don't have enough problems 😞 it's astonishing the lack of awareness from the medical community and they go out of their way to mock me for thinking that "my body is special and does things others don't do" like ummm yeah that's kinda the definition of rare disease. Everyone jumping on the EDS train is NOT helping matters either, I hope everyone gets their dx and feel validated that something is going on with their bodies but I hate to tell them that nothing much changes. You're still not going to be understood by 99% of Drs and people who hear their fam or friends have it really don't care because it's not fatal (vEDS aside)
"Trendy diagnosis" is such a pain in the ass these days. EDS, POTS, PTSD, Tourette Syndrome, autism etc are like a flood in teenager's instagram bios.
I don't understand why the first action taken by physicians is to refer the patient to a different specialist for every symptom....isn't it less likely that any multi-systemic disease will be far less likely to be correctly diagnosed?
At least in the US, it's largely about incentives. It is more lucrative for a medical practice to see 4 patients for 15 minutes each than 1 patient for an hour. So if a patient comes in to their primary care doctor with back pain, high blood pressure, migraines, and an itchy rash - a good primary is knowledgeable enough to manage all these themselves. But instead, they focus on the back pain during their 15 minute appointment with the patient, and then refer out to cardiology, neurology, and dermatology. This is rarely the fault of the individual physician because most physicians in the US belong to large multispecialty groups now, which are largely managed by non-physicians who dictate how long visits can be, and in some cases, even how many problems can be addressed during one visit. I had a family member recently see a sports medicine doc with 2 different musculoskeletal symptoms, and the doc would only address one symptom during that visit and made my relative schedule a second appointment a month later for the second symptom. It is absurd, but that is the US healthcare system.
@@StrongMed Can collagen supplements help?
Hello. I had heard EDS had POTS as another associated syndrome. I can bring my thumb to my forearm, join my hands on my back and not sure if my knees bend more than 10°, but nothing else. A few years ago I fainted about 5 times in a 14 months period. I would be walking - or had just stood up - and feel dizzy, faint and when I woke up I would open my mouth and breath like i hadn´t been doing so while unconscious.
I wonder - please - if I could have EDS? Or not related?
You could have EDS or even HSD (hypermobile spectrum disorder)
please don’t get medical advice from the internet . It is also illegal for him to diagnose you over youtube
@@Candicedickinsonllc Hello, I think they are just giving an opinion..
I wasn't expecting to get a diagnosis from the doctor either.
@@Jayp515 thanks. I'll comment to a GP and see what they think.
@@Candicedickinsonllc getting medical advice safely online is perfectly fine. I got my diagnosis because i was told to go to a doctor about my symptoms by someone online. Medical advice online is only harmful if it is false or telling you *not* to go to a doctor for serious issues.
Well done from someone who has suffered from a person with vEDS, Accept hEDS is now known to be more like 1 in 500.
Thanks for the comment, but are you sure that prevalence isn't for the hypermobility spectrum disorders?
I'm fine being wrong about this, but all the sources I have seen has placed the prevalence of hEDS somewhere ~1/5000 to 1/20,000, and the overall prevalence of all EDS subtypes at ~1/3500 to 1/10,000. For example, this is from the Ehlers-Danlos society's website (www.ehlers-danlos.com/what-is-eds/):
"How prevalent are Ehlers-Danlos syndromes?
The overall prevalence of the Ehlers-Danlos syndromes is between 1 in 3,500 to 1 in 5,000 people. The hypermobile variant (hEDS) is by far the most common type and may be more common than that as it may be missed or misdiagnosed as something else. Most are rare e.g., 1 in 40,000 - 200,000 and some are ultrarare i.e., less than 1 in a million people. Individuals of all racial and ethnic backgrounds are affected by EDS which can present with complications from birth and progress over time...
What is hypermobility spectrum disorder (HSD)?
Some people have joint hypermobility, joint instability, injury, and pain in their joints and muscles that is identical in its mechanism to that seen in EDS. However, they do not have other connective tissue problems like those described above (skin, gums, bowel, and blood vessel rupture, etc) and therefore do not have signs of EDS or any other of the hypermobility-related disorders of connective tissue such as Marfan syndrome or Loeys-Dietz syndrome, etc. In this situation where there is no other explanation for hypermobility, instability, and joint and muscle injury, the term hypermobility spectrum disorder (HSD) is used...
The prevalence of HSD may be in the order of 1 in 500 to 1 in 600 based on a large population study of medical records. HSD may be more common than that as it may be missed or misdiagnosed as something else."
@@StrongMed Most doctors don't know crap about this disease it's way more common than you think.
@@AliSalman2889 I agree that most doctors know little about EDS - that's why it's included in this series on "Underappreciated Diseases".
@@StrongMed While I'm certainly no expert, as a patient, I find that the 1 in 500 statistic is commonly cited within EDS communities, but poorly supported and widely misunderstood. Personally, I don't find the evidence conclusive enough to say hEDS is definitely common as many claim. From what I can tell, the main source of this claim is a study of Welsh medical records, which found that COMBINED prevalence of all subtypes of EDS and JHS in Wales is roughly 1/500. Through the grapevine, this has been distorted as "hEDS occurs in 1 in 500 people", which I cannot find any source for, but which is commonly cited in EDS communities as gospel truth. Needless to say, one study of medical records in one country, which included people diagnosed with multiple related disorders by many different classifications (including mostly those diagnosed before 2017 with the Villefranche criteria, 85% of whom do not meet current hEDS diagnostic criteria) does not make an inarguable basis for worldwide prevalence of one syndrome included in that study. While of course, the 85% diagnostic difference could be seen as evidence of either the inappropriate ruling-out of huge number of patients, or the prior inappropriate diagnosis of huge percentages of patients, it seems impossible to truly know at this point in the history of knowledge on hEDS. It seems as though the Villefranche nosology is fairly accurate at identifying patients with subtypes that can currently be confirmed with genetic testing, but it is very hard to speculate on which criteria is most accurate for hEDS given the lack of a genetic test to confirm. I believe the Ehlers-Danlos Society has just announced they are beginning a review of the 2017 criteria, but I think the most we can accurately say at the moment is that both true prevalence of all types of EDS (since the existence of genetic tests does not mean all, or even most patients are being properly identified and referred for such testing) and the accuracy of our current tools for identifying hEDS is unknown.
The study of Welsh records is here: pubmed.ncbi.nlm.nih.gov/31685485/
And the diagnostic discrepancy is here: pubmed.ncbi.nlm.nih.gov/31840928/
@@marycrawford3891 Thanks for the comment and links!