Conditions similar to EDS


Hey guys, so today is Sunday, yep Sunday, and I just got finished doing a livestream like maybe an hour ago And then I went outside and it was really nice because I hadn’t left the house the entire day Um, so it was like good to actually see the outdoors. So anyway, today we are talking about conditions that are similar to ehlers danlos syndrome There are different ways that you can interpret similar – all of the conditions that I’ll be talking about are Biologically similar if that makes any sense and therefore also have a lot of overlapping symptoms I’m not talking about the conditions that are You know like autoimmune conditions for example They may have some similar symptoms but the actual basis for what’s going on is completely different and The symptoms can’t exactly aligned as much as with these disorders. I hope that makes sense. Basically, I’m talking about other heritable connective tissue disorders in this video I’m not talking about autoimmune connective tissue disorders, but I can talk about them in another video So the first condition we’re talking about is Marfan syndrome It’s another genetic connective tissue disorder and some of the similarities it has with EDS are joint hypermobility And of a lot of fits of dislocations, too, it causes a lot of heart issues like aortic issues But it’s a lot more prevalent in Marfan syndrome than it is in like hypermobile EDS people Very often have like an aortic root dilation, or at least mitral valve prolapse They can have stretchy skin and a lot of stretch marks and just like bad healing, scoliosis, flat feet, blood vessel issues, joint pain, things like that are similar to EDS, but some of the main differences are actually Features that you can see so it’s like mainly skeletal ones. So first almost everybody with Marfan syndrome is Incredibly tall and has really long arms. This is called a marfanoid habitus This is because basically Marfan syndrome is a mutation of fbn1 And that codes for fibrillin 1, which is a type of protein that’s in the extracellular matrix which means it’s you know between the cells and It also has something to do with growth hormone beta, is that correct? Is it beta? With Tgf-beta, which is a growth hormone and it basically causes an increase in the amount of tgf-beta And because it’s a growth hormone, it makes you grow really tall So that’s something that’s not really ever seen in ehlers danlos syndrome however Sometimes it is so mainly the long arms. So there is some crossover but it’s not very common Whereas almost everybody with Marfan syndrome does have that those long arms and very tall, lanky body Another thing is arachnodactyly. That’s something else that also crosses over with EDS. That’s extremely long fingers And it reminds me of like a spider or like some type of dinosaur And I think it does come – the root of it might come from spiders. I don’t know though, I could be wrong Don’t take my word for it. They also tend to have like pectus excavatum or the opposite that I don’t really know how to pronounce Pectus carinatum I don’t know, um, it’s like where your chest either like sinks in or out it’s like skeletal. I’ll show you some pictures it’s very common to have an intraocular lens Dislocation you can have that with EDS but it is way more common with Marfan syndrome. Like it’s actually common with Marfan syndrome. You can also have a high palate. Oh, yeah Yeah palate. It’s like very arched if you know what I mean You can also have that with EDS so you can see that there are some crossovers but these are very common features in Marfan syndrome and they’re Sometimes features in EDS. Also some differences are that like a lot of people at EDS they tend to have more Internal organ issues or like I really mean organ necessarily I mean we tend to have more than internal manifestations in some ways So for example: POTS, way more people with EDS are gonna have POTS than in Marfan syndrome But you can also have it with Marfan syndrome A lot of people also tend to have less joint pain in Marfan syndrome, though it totally can be bad It occurs in 1 out of 5,000 people and the first symptoms of Marfan syndrome Tend to not be like a vascular Complication. It usually tends to be like something else like they’re just really tall the doctor is like concerned or like hypermobility or some other type of issue a Good thing is, it does not tend to be some like complication with your aorta. That’s like Not the first symptom. Also I wanted to quickly tell you as I continue to suck this down That Nuun hydration is amazing and they sent me, let me show this to you So I’ve been taking Nuun hydration for like over a year and I had all of these And they’re really good. My favorite flavor by the way is the lime It’s a drink. It’s like a fizzy drink. It’s a tablet that you put in your water and It fizzes and it has a lot of potassium and sodium and other electrolytes in it I take it mainly ’cause of my POTS. Also I used – I started taking it too because
of gastroparesis It’s good to get sodium and potassium. But like sometimes, it’s hard to eat it. It’s sometimes a lot easier to drink it Anyway, they sent me three new flavors that I’ve never had and they’re so sweet orange citrus Blueberry pomegranate and strawberry lemonade, so I tried two of them I have not tried this one yet, and they’re so good by the way they have like 1 to 2 grams of sugar in each like serving, which is crazy because usually These types of drinks are like filled with like 20 grams of sugar Which is like I might as well eat a candy bar. If you want any of these I will put the link in the description I really love Nuun hydration. Ok, the next thing we’re talking about is Loeys-Dietz syndrome Now you may not have heard of this one. It does have a lot of similarities Probably more with the vascular type of EDS than the hyper mobile type, not always though And it’s also more similar to Marfan syndrome than to EDS But it does share skeletal and cardiovascular and skin manifestations with EDS. So that means you know stretchy skin and problems healing, joint issues or hypermobility and dislocations And like very similar heart issues But a main thing about Loeys-Dietz syndrome is it really does affect the heart a lot. And so somebody with hypermobile EDS? There’s only if I remember correctly about 25 percent of People with EDS and I think all types of EDS in total end up having some type of issue with a with their aorta But with Loeys-Dietz syndrome It’s like almost everybody and there are six types and there is a very wide like range of how bad Loeys-Dietz syndrome can be and so some people Really really have it badly. They are very badly affected by it and other people They’re more similar to like mild cases of EDS. Where, just on their own they might not even seek out a diagnosis or they might but like It wouldn’t be very clear or obvious that it’s Loeys-Dietz syndrome And actually sometimes people with mild Loeys-Dietz syndrome actually get diagnosed with EDS first So some big differences: One, I said it earlier, they have a lot more heart issues Usually the reason that somebody ends up getting a diagnosis or looking for a diagnosis for Loeys-Dietz syndrome Like, you know, their doctors are looking into it is because of some type of vascular complication where as with Marfan syndrome It’s usually the opposite it’s usually not that’s not usually what causes them to get the diagnosis or start looking into the diagnosis They also tend to have a lot more facial facial features that are seen in Marfan syndrome and EDS Really the only type of EDS that has facial features that I know of are really just that it’s really just the vascular type And even those are not very very noticeable and same thing with Loeys-Dietz syndrome Sometimes they’re noticeable, sometimes they’re not. Some of these features include you can have like your eyes lay far apart I can’t remember the name for that, it’s a really long word. Um You can have an abnormal uvula You know dangly thing in the back of your throat. Cleft palates are common A lot of times people have club feet like clubfoot like um club feet. Yeah of course you would say feet um when they’re born Um, I know it’s not a facial feature, but like I’m just moving into like regular features too apparently Another thing is that it can cause some learning disabilities or developmental issues, not always and sometimes only very mildly. The prevalence of Loeys-Dietz syndrome is not known I don’t know why it’s not known like I don’t know if there’s they just assume so many people have it that are not diagnosed Or like they just don’t have a good count. I don’t know. But anyway, I want to show you some pictures of just like The big difference in like facial features like so somebody here’s the first picture like you Wouldn’t notice that like they have that their eyes are far apart actually They’re really not like they don’t really have any facial features where as like somebody like this boy below, He does. His eyes are very far apart. And so if he started having symptoms, a doctor probably would saying Hey, let’s do some real genetic testing for not just EDS But other disorders because you have a facial feature of another connective tissue disorder, whereas this girl in the first picture She really doesn’t at least not at first glance You know what I mean, so you wouldn’t, if she had been diagnosed with EDS just by her facial features nobody would really be like, oh you have these facial features and you should get tested for something else especially of course that their symptoms are like mild. I’m saying if their symptoms are similar to something like EDS Not if they’re very Loeys-Dietz syndrome characteristic Like if they are then I’m sure somebody would diagnose them with Loeys-Dietz syndrome or I mean do the genetic testing Kwami, hi! There you go, baby Meow meow. Hi! He’s feral, so I can’t go too close because he gets scared. There you go, baby. Gigi’s always fed up here. I don’t know why but she always goes here. Here you go little Gi I love you. So you have to like chase these cats around with food Jamal Sorry, oh, I didn’t mean to hit you with your food. Please forgive me. Now, I just have to remember that I put food underneath there because you don’t want to forget about that. That’s not something you want to forget about. So the next one we’re talking about is stickler syndrome This is probably the least similar to EDS But it can be kind of similar Of course every single case of EDS and every single case of stickler syndrome is different I also want to say for this one just like with Loeys-Dietz syndrome. There is a very wide spectrum of severity so that means that some people with stickler syndrome are going to be affected by it a lot and then some people are going to Not be affected by it that much just like how EDS is a very wide spectrum There are some disorders that don’t have as wide of a spectrum. Some of the main issues are Distinctive facial appearance. Eye abnormalities, hearing loss, and joint problems. They are very hypermobile and it’s very common to get arthritis early in life due to stickler syndrome So a lot of the distinct facial features, they can be mild or they can be more pronounced They tend to make a flattened facial appearance Underdeveloped cheekbones and like nose or like bridge of the nose, cleft palate, smaller jaw and things like that A lot of people tend to have major eye issues like really bad nearsightedness or glaucoma, cataracts, retinal detachment. Now, this one is a little bit rarer than Marfan syndrome. It’s but it’s one in every 7,500 to 9,000 people Also, I want to say that this syndrome is similar to a Marshall syndrome I’m not gonna go into detail because they are similar, but just know that like I don’t know if you’re a researching this and you’re interested in it, also look up Marshall syndrome. Now we have one more to talk about and I have spoken about this one on my channel before so I will do this quickly Mainly generalized hypermobile spectrum disorder. So let’s really talk about that. The main thing is that people have hypermobile spectrum disorders They are hypermobile and they have issues with their joints due to that hypermobility. Now there are some people with hypermobile spectrum disorder who have comorbidities that are very similar comorbidities like with EDS so POTS, gastroparesis, my two main examples ’cause I have both of those but think about other ones, you know, like CCI, Chiari, other things like that. They could have so many of these But still have that hypermobile spectrum disorder diagnosis. Thing is, a lot of those people probably do have EDS. It’s editing me quickly Just wanted to say that it’s not that most people with hypermobile spectrum disorders actually have EDS. It’s just that a small subset of the people with generalized hypermobile spectrum disorder who have like comorbidities of EDS and so many EDS specific symptoms It would be quite likely that they probably do in fact have EDS and they just don’t pass the EDS criteria So they’re given the HSD diagnosis but again that’s a small percentage of the people who have HSD. The good thing is is that the ehlers danlos society recognizes HSD or hyper mobile spectrum disorders just as seriously as they recognize the 13 types of ehlers danlos syndrome They should all be treated with the same level of care It does not mean that if you have hypermobile spectrum disorder, that you are less sever than somebody with ehlers danlos syndrome So there are more genetic connective tissue disorders and some of them come with hypermobility But a lot of them affect other types of connective tissue that just don’t really affect the joints so much Osteogenesis imperfecta, I think it’s also brittle bone disease syndrome. Brittle bone syndrome? Like that is also a genetic connective tissue disorder, but it affects something in the bones. So like that’s just an example So I’m not going into everything and the last thing I want to say about this is that there are going to be a lot Of people with genetic mutations that that that are not classified as something yet Whether or not it ends up being classified as a type of ehlers danlos syndrome Or something else or just something without a name and it’s connective tissue who knows and it’s gonna to be dependent on the case and whatever that happens like whenever they discover it but It is interesting to say that like there are definitely are so many mutations That probably classified would be classified under EDS that have not been found yet and a lot of these people are diagnosed with hypermobile EDS and those genes that – and those genes that are mutated have yet to actually be checked for. That’s what I’m trying to say. I don’t know if I’m being clear It’s possible that I’m not being clear and I’m only being clear to myself and that’s a very common issue Anyway, I hope you learned something from this and I didn’t just confuse you um, I Think that this is like something to bring up with the discussion with your doctor If you feel that like one of these disorders like fits you super duper well like you have an ehlers danlos syndrome diagnosis But you have an aortic root dilation and you’re incredibly tall and your arms are super long and you have pectus excavatum And you have a really high palate and you’re like maybe just talk to my doctor about Marfan syndrome Not a bad idea. But of course my pensions are always just to educate and interest people and Never to make anybody worried. That’s like not at all what I’m saying, so I hope you don’t take it like that. So I’ll see you the next video. Bye!

Comments 30

  • I absolutely love your videos. So educational and interesting ♥️

  • i enjoyed the video. Keep up the good work!

  • Thank you for making such informative and helpful videos ❤️

  • This was super interesting and helpful, thank you!!

  • Thanks for taking the time to make these amazing and helpful videos

  • Fascinating stuff! Thanks Izzy! I met a gentleman with Mardan’s Syndrome at the hospital a couple of weeks ago. He was 6’10”! xxxxxxxxxxx

  • this was awesome 👏🏽 😎 thank you 😊 & very well spoken

  • Love this, I have been researching these myself because docs have been conflicted on if I have EDS, but they know I have something so we are waiting on genetic results

  • Yay!! I just got the approval from my English Composition instructor to write my informative essay on connective tissue disorders. I'm definitely including EDS and will cite your channel 😉

  • Watching this video convinces me even more that you should continue your schooling and definitely concentrate on studying genetics!! You are so good at it and are really enthusiastic about it!! Love it because it’s so helpful and you make it interesting!!
    Keep up the great work Izzy!! xoxo

  • A friend of mine has Sticklers Syndrome.
    I would encourage everyone who has a dx of any type of EDS, Marfan, or Louey-Deitz, to download the Backpack Health App in the play store! It's absolutely free to use! The app allows you to keep all your med records together in one place, encrypted, with a special url that can be shared to any of your dr's or family. You even get a discount on medical id's and can have a special url engraved on that id for med personnel to look up your emergency info. You can join the Marfan Foundation group in the app and get connected with a ton of info as well!

  • Thanks for this video! I have a great deal of hEDS traits (though probably insufficient for diagnosis), and it's really helpful to look into this sort of differential diagnosis as I try to work out precisely what breed of zebra I am. 🙂

  • 8:56 I wish that doctors would not just look at a person and say things like, "You are too young for what you are describing, Your test results for the other test I gave you came out looking (Normal) so I don't think you have what you are describing and if you did have what you think you have you would be on a gurney and not talking to me". The sad thing is that just because someone doesn't look a certain way doesn't mean they really aren't suffering and just because they may not be crying out in pain doesn't mean they aren't in pain. If Doctors would be the first to not judge people then maybe other people in the community would not be so out to do so? I noticed that the little boy his chin on the left side was indented in and didn't look like the right side of his chin. Like I said that if Doctors would look not at only what they can see but look and listen to what the patient is going through maybe more people will get the proper diagnosis?
    One thing that I discovered is that if someone has different symptoms but not all of them line up that means there may not be a ICD-10 Code for it or they are experiencing may not match up with what the ICD-10 Code has listed.
    Thank You for the video and No you made lots of sense and I hope you can make more videos like this one?

  • This was very interesting! Thank you! I feel like this is just more confirmation that I have EDS.

  • I'm such an online research junkie (I know, the worst thing you can be when you have chronic illness, I try to stay away from doctor google for my own symptoms) so this kind of video is so fun and interesting to me. Thank you for bringing fun and fascinating content to us so often!

  • My first 2 diagnosis before I went to the Cleveland Clinic was Marfans and Loeys-Dietz. Then they thought for sure vascular EDS, but I tested negative for that, too. This was 10+ years ago so there wasn't a whole lot going on back then. Now they say Hypermobile Type and I am mildly hypermobile(but i was very hypermobile as a kid. I think it could be scar tissue from 10 years of ballet), but that's not quite right, either. I am extremely vascular. Mehhhhh frustratioooooon. Im in the process of getting it all sorted, but still. 😛

  • HSD and HEDS are these days indistinguishable, even the www.potsuk.co.uk website says so.

  • I always watch the entire ad , not sure if I need to watch the entire thing for you to be monetized or just the first 30 seconds ?

    P.S. you definitely deserve to be monetized so I don't mind just curious? 🤗🤔

  • How did you become so knowledgeable about EDS ?

  • I had my son tested for Marfans but got told he just had a connective tissue disorder and there’s nothing could be done ✅ Thanks only Ped Rheumatologist in my City . Our ONLY hospital also doesn’t believe EDS is a “real” disease. They refuse to give any one of the 30+ EDS /HSDs patients pain medication.
    I came to this city from a larger city and was getting infusions for pain and minerals and vitamins etc which was actually relieving my all the time achy bone pain and fatigue for 12mths !! Yet here ( different state ) they refuse to do the same protocols they do in most other states … from Australia.
    I lost my breastfeeding son to a Husband whom refused to believe I was sick ( when we met he knew that I was on a disability pension and been completely diagnosed also have endometriosis and PCOS & POTS & Scoliosis ) and told police I was going to murder my kids and kill my self …, yup
    Got locked up in a psych ward for 3 weeks while they took me off All my pain medication ( I had broken my hip bone , the week before )
    and open bed sores on my back being 41 kilos as I was breastfeeding and I’ve always had hard time to keep on weight no matter what I eat . I do now have a high fat and protein and unprocessed carbs ! Now back to 50kgs at 173cm . This is common in people with a marfanoid habitus …, my third son has this as well he eats and eats and eats yet no fat and little muscle is growing…, Both of us have MTHFR gene mutation double heterozygous… Thanks for allowing me to vent !!

  • Very informative 👍😘

  • I have Larsens and like to piggy back on to EDS boards as there seems to be so many more EDS folks around and we do have some similar issues. Frequently if I have a question I can get an answered on the EDS sites. Anyway thanks for the video.

  • My doctor told me EDS does has a look, and it’s described as elf-like. He told me he knew I had it as soon as I walked in the room. (I don’t have vascular type) I’ve not been able to find any articles on this, but I’ve found it interesting because a lot of my friends have told me I look like an elf although I’ve never thought that.

  • I loved the video! However, I will say that at 13:07, whatever room you are in, I find it so much easier to understand what you're saying! I have some sensory issues (mainly audio/hearing) and the fact that the room at 13:07 is much less echoy makes it easier to know what you are saying. Still, very informative video 😊 I have EDS and my cousin has marfans…I wonder if this is just a coincide or not…? Who knows 😂

  • Had a doctor last month say the sentence, "Maybe you just have something that we don't have a name for yet." It was somehow both anxiety inducing and reassuring.

  • Love this video! The genetics doctor I saw said either I have veds or loyes dietz. I found a company that only charges $500 or less for the genetic testing.. I think I’m going to ask for that for Christmas! I’ve wanted to know for so long what I have.

  • I would love to send you a private message or email. I was finally diagnosed last ear at the age of 44 with h-EDS and am really struggling. In my country there is no help apart from a few physio visits with therapists who don’t know about EDS and two visits to a podiatrist. I am very sick and don’t know where to turn. I am in constant severe pain and haven’t had a day without crippling pain in years. I’m so tired I can’t do much at all, even driving is become no impossible because moving my foot from pedal to pedal exacerbates my hip and thigh pain. I’m just at a loss. Thank you for your videos.

  • Pectus is also common with EDS. I just have surgery to lift my pectus off of my heart and lungs because they were going into hear failure.
    My doctors said any connective tissue can cause it to sink in because there isn’t enough “collagen” to hold it up.

  • A lot of people with EDS have pectus excavatum too actually

  • Have you ever heard of an open sinus in the ear with EDS & Marfans ?
    I saw a person (not my patient), that I believe has Marfans ( I DID NOT tell him this). I think he's 40 or so. He said he does not have a PCP. He said he only goes to urgent care for illnesses. I encouraged him to get a PCP. Anyway he has this open sinus in his ear as I see alot in EDS .

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