Diagnosed With Ehlers-Danlos Syndrome (Eds)

[monica]

Hi everyone,

I posted a while back about trying to find out if I have EDS. The Geneticist said that most likely I have EDS-Classical type and not the hypermobility type that my Rheumatologist suspected but she also wants me to get some Genetic blood testing done to rule out Vascular-EDS and Stickler's Syndrome.

I just wanted to thank everyone here because this wonderful website helped me get this diagnosis. I was first diagnosed with P.O.T.S. and then read here for the first time about EDS. Started looking into it, one thing led to another and now I finally know what has been causing all this pain and misery all these years! No doctor could find out what was happening to me and I had been told I had Fibromyalgia.

Thanks again everyone!

I was wondering how many people here with P.O.T.S/Dysautonomia have EDS too? Is it common to have both conditions together? My Mom also has EDS and I suspect she has P.O.T.S. too.

[issie]

Yes, I'm one. It's also common for us with POTS and EDS to have MCAS (mast cell activation syndrome). This can be your next thing to check into.

Issie

[monica]

Yeah! I've been trying really hard to find someone in my area who has knowledge of MCAS but no one seems to know about it. I think my mom definitely has it! How did you get a diagnosis of MCAS..was it locally or did you have to travel somewhere? Thanks!

[issie]

Yeah! I've been trying really hard to find someone in my area who has knowledge of MCAS but no one seems to know about it. I think my mom definitely has it! How did you get a diagnosis of MCAS..was it locally or did you have to travel somewhere? Thanks!

Lot of years of digging and searching for doctors. Finally docs at Mayo, AZ - got it and are treating it.

Issie

[badhbt]

Can I ask what are the symptoms of EDS not the hypermobility type?

[monica]

Thanks Issie!

Hi Badhbt! Along with hyper-mobile joints, the Classical type has more skin involvement than the hyperrmobility type ( though the hypermobility type can also show skin manifestations since there is usually a crossover between the different types).

Hypermobility type : http://www.ncbi.nlm.nih.gov/books/NBK1279/

Classic type: http://www.ncbi.nlm.nih.gov/books/NBK1244/

Only a Geneticist/Rheumatologist who has knowledge of EDS can differentiate between the different types.

The Geneticist said that I have wide scars and very soft, doughy skin which I didn't know. I also bruise/get cuts easily and have prolonged bleeding. I don't know if she thought my skin was stretchy or not... I'm curious to see her notes when they send them to me.

[rach73]

Hi,

some one that advises the government in the UK on disabilities (a Prof but which one I am not sure) says that 78% of people with EDS will have dysautonomia of some kind including POTS. Why they dont know but the link is certainly known about.

Rach

[anna]

It was Prof. Graham he used to be chair on the DWP medical advisory board.

[tigerbomb]

I have CEDS and POTS too. Welcome to the club!

I've noticed that there's a lot more written about HEDS and dysautnomia than CEDS and dysautonomia. I don't know if it's because CEDS is less common, or if dysautonomia is genuinely more frequent in the HEDS population. Regardless, the stuff that I've read about HEDS + POTS seems to apply to me too.

I'm also investigating mast cell activation due to some weird allergies, but it's a slow go. I started seeing an allergist/immunologist shortly before my POTS got bad, and had some preliminary testing done. There was no evidence of MCAS (which doesn't rule it out, of course), but my C3 and C4 complement levels are seriously depleted, which points to an autoimmune problem. At this point, my immunologist is certain that there's something wrong with my immune system, but he wants to rule out an autoimmune autonomic & sensory neuropathy first. He says I'm complicated, haha.

[Mytwogirlsrox]

I think about this often. I have stretchy skin, Im double jointed, I have stretch marks, varicose veins and OI.

I just dont have any joint pain. I can also blame my symptoms on gain/loss of substantial weight (stretchy skin), big pregnancies (varicose veins). I also only score a 2 or 3 on the hyper mobile scale.

I've asked before on EDS websites and they said of there isnt any pain, don't worry about it. So is pain a main diagnosis criteria?

I don't know

[Christy_D]

What is the advantage of getting this diagnosis? My son has POTS and MCAS. A doctor at the Mayo said his elbows were slightly hypermobile, sprained his ankle easily. But, my daughter who had a TTT didn't show POTS(she is my fainter) but was diagnosed with O.I. She is hypermobile and has a lot of joint pain and muscular pain. She has a lot of the EDS symptoms, as does my sister and her kids and my mother did as well. While my son is housebound, my daughter is my fighter and lives her life as full as she can.

I guess what I'm wondering is, what does getting this diagnosis add to your treatment plan for POTS? She has already been given pain medication. Is is just the knowledge of it or changes in life routines she would need to make etc?? I've flip flopped back and forth on this.

Thanks,

Christy

[tigerbomb]

According to the Villefranche diagnostic criteria, pain would support an EDS diagnosis but is not required. There can be a wide variety in the expression of the EDS genes, even within families. So, for example, I have a lot of pain and a positive Beighton score, but my brother doesn't. However, there's a good chance he carries the EDS mutation - he's had his lung collapse spontaneously twice, he has a somewhat prolonged bleeding time, and his hands are far more flexible than mine.

That being said, there's not really a reason for him to pursue an EDS diagnosis right now. I needed a diagnosis so I could get specialized PT, better pain control, and have doctors take my symptoms seriously (instead of telling me it was all just stress/depression/fibromyalgia/hypochondria/etc). And, if my brother goes on to develop potentially EDS-related problems in the future (which I sincerely hope he does not), my existing diagnosis would support his diagnosis.

I know that my EDS diagnosis helped me to convince my doctors to give me a TTT in the first place, but it hasn't actually helped with treatment. For example, I saw a cardiologist who didn't think it was necessary to do further testing to check for neuropathy, autoimmune problems, hyperandrogenic stuff, etc - he just wanted to chalk the whole problem up to extra-stretchy EDS veins. I didn't really think that seemed prudent, so we parted ways. Now I'm looking for a specialist who is willing to look beyond the EDS to make sure there isn't something else going on.

Good luck!

[issie]

For me having the diagnosis explained so many things that could not be explained otherwise. Things that happened with instability, early arthritis, eye problems, etc. Can be explained by EDS. If I had known sooner, I would have done things to support collagen and done things to try to prevent arthritis. With me, there is a lot of pain. But, I know why and that makes it more bearable. You also realize that you have to come to terms with it - as it's not going away.

The jury is still out on how much of a part it plays in POTS. But, I'm sure it plays a partial role in it. I personally, don't think it is the cause of it. But, that's just my thinking. If it were the cause of it - then everyone with EDS would have POTS. They don't!

Issie

[HopeSprings]

I'm glad this topic came up because I'm in a state of confusion myself. I hadn't pursued EDS until now because I really never thought of myself as flexible, but I do have some of the other signs and since it is so associated with POTS, thought I might as well check it out. So I recently went to see a geneticist who specializes in Marfan and EDS. I told her about the POTS, pointed out my thin skin, very visible veins, told her about the easy bruising, flat feet, ankles turn in and someone recently told me about this reverse prayer pose being a sign of EDS - which much to my surprise I can do. This is the one area I can say I do feel very "loose" - my shoulders.

When the Dr. examined me she mentioned soft skin, something about a scar on my back, and when I stood, she looked at my legs and said "ballerina legs" with no further explanation. I think this refers to one of the items on the Beighton test. She measured a bunch of body parts, had me tuck my thumb under all my fingers, asked me if could touch the floor and something with my hand - I forget now, I think asked if I could touch my thumb to my wrist. I can't do any of those things. End of the appointment, she couldn't tell me whether I have EDS or not! She said I'm not a classic case, but there are signs, but I'm in a grey area. WHAT? So - is it really this hard to diagnose? Do you have to be super hypermobile to have it? Can those of you diagnosed do ALL the stuff on the Beighton test? And anything else you can tell me..... Thanks.

[monica]

Hi Tigerbomb, I agree that much more has been written about HEDS and Dyautonomia, maybe because CEDS is less common… I have been wondering about that myself. I suspect my brother also has EDS though his symptoms are not as bad as my mom’s or mine but he complains of pain, insomnia , anxiety and has sever GI issues. My mom’s brother who is super hyper-mobile, is in his 50’s and is completely pain-free…go figure!

Mytwogirlsrox, Christyd, my reasons for pursuing a diagnosis of EDS were exactly as Issie and Tigerbomb described. I needed to know what was causing my pain all these years. My mom is also in a very bad shape, I really needed to get help for her too. She has horrendous, painful varicose veins, cranio-cervical instability, carotid-cavernous fistulas ( bleeding in whites of eyes), trigeminal neuralgia, multiple-awful allergies among other things. I want to protect my joints and prevent further damage and do all I can to slow the progression of EDS. I too was sick of being told it's Fibromyalgia/stress/anxiety/all in my head...I needed validation because deep inside I knew that something was very wrong......

[monica]

Naomi, I never considered myself to be super flexible either..yes, there are a lot of things I can do though which show my hyper-mobility but always thought that others could do it too

I score 5-6 out of 9 on the Beighton scale

-Both thumbs can touch inner forearm

-Pinki fingers extend by more than 90 dgrees.

-Both elbows extend past 180 degrees( one more than 10 degrees)

--Can touch fingers to floor without bending knees ( I think I could touch palms when younger, now back very stiff?)

The Geneticist didn't ask me to show her all this ( she was focussing more on the Beighton criterion ) but I do have additional examples of Hypermobility:

-Can easily do the "Reverse-Namaskar" pose.

- Can touch both hands behind back by bringing one over shoulder.

- Positive Gorlin’s sign-Can touch tip of the tongue to nose.

-Hyperflexion of big toes on feet

- Swan neck deformities of fingers ( hypermobility DIP and PIP joints most fingers as well as IP joints of thumbs)

I also have :

-Positive Walker-Murdoch sign

-Positive Steinberg-thumb sign

though these are more to test for Marfan's than EDS.

I also have thin skin with visible veins, easy bruising, flat feet and get ankle sprains frequently.

[icesktr189]

You def want to know if you have EDS before a pregnancy or surgery. My OB freaked when I was 9 months pregnant and thought i had EDS because if yiu have the vascular kind, you can die during childbirth.

[Chaos]

~Naomi- I believe in the past that Mack's mom had said that one of the EDS specialists (Dr. Francamano? Dr Castells?) had said that they think there are actually around 200 HDCTs (heritable disorders of connective tissue), so even if you don't specifically qualify as having EDS, there are LOTS of other ones out there that could also be related to all this POTS/OI stuff. If you can search some of her old posts you might find more info on that. There is also a lot of research that seems to suggest that there may be a genetic predisposition between people with EDS/POTS and getting ME/CFS.

I know that when I saw the geneticist, she was saying that the Beighton score is sometimes criticized because it seems to focus on the smaller joints but doesn't look at shoulders and hips so much, which are areas where I'm exceptionally hyper-mobile. I still score a 7/9 on Beighton but she was saying that some people will be more hyper mobile in those bigger joints but not so much in the fingers and wrists (4 points of Beighton) and therefore not "look" like they are EDS candidates. I think that's why they need to look at the Beighton criteria, not just the score.

[monica]

Chaos, I couldn't agree more with what you said.

Naomi, maybe you can go to another good specialist who specializes in Connective tissue disorders?

Fyi, most of my pain and hypermobility is in my neck, shoulders and upper back. My pain started with an injury/tear/subluxation ( I don't know what happened but I felt a distinct crack) in my upper back. Then it spread to my neck and shoulders after sometime and over the years now I get ankle sprains, pain in my hands and fingers.

My Geneticist also wants me get testing done to rule out Stickler's syndrome, Fabry's disease and of course Vascular-EDS as the symptoms of all these Connective tissue disorders overlap each other.

[Altruism]

I'm super confused when it comes to whether or not I have EDS.

All the women in my family are hypermobile, but it lessens as we age. I always thought this hypermobility is completely normal.

Now, after being diagnosed with POTS, I saw the No 1 EDS researcher Peter Byers. He said I do not have EDS, just some more mobility in my joints, but he said most people do have it too (he did the thumb to wrist thingy in front of me). He said that there will be a conference in Ontario (?) this year where researchers from all over the world will try to organize and change the EDS classification. He says it's overused now and not as many patients have EDS, just BHS. I am trying and willing to trust him, but it's hard. I'm taking huge dose vit C to help my collagen (just in case). I'm confused because at home I seem to score 7 on the Beighton scale, but Dr Byers said I cannot fully extend my knees and I cannot really touch the floor with my knees extended, so this is -3 on the scale. If he's right - I'm BHS. If he's wrong - I have EDS. We also did blood work for VEDS and I'm still waiting for the results (praying for a negative result).

Naomi, what are the statistics for women dying after childbirth with VEDS? I think it was 25%? I had a huge postpartum hemorrhage and it makes me wonder...

Anyway, I think the whole EDS and BHS thing is a mess. It needs to be reclassified. I hope they do it soon.

[HopeSprings]

Ok, now I've been thinking about this. I looked more closely at the Beighton Test and my elbows can do the same thing she noted about my legs. So doesn't that get me at least a 4? And I'm pretty sure at least one pinky goes up 90 degrees. I forgot to mention other symptoms like early stretch marks, chillbains, degenerative disc disease, spondylolisthesis, arthritis in my neck and knee, deviated septum, spider veins, tiny broken blood vessels, areas of stretchy skin, the bone crushing pain I feel in my legs at night... I'll bet I can dig up more. These things may be common in the general population, but is it common for one person to have all of these? I mentioned VEDS testing to her and suprisingly she agreed to test for it. I also brought up Mitochondrial Disease and gave her the list that Rachel recently posted - and again shocked she's willing to test. She did say that EDS and Mitochondrial Disease have become "fashionable" - I didn't like that, but she did call me on a Sunday morning to discuss things so I can't dislike her! I think once that testing is done and I go back to follow up, I'm going to ask for a full Beighton Test and be more direct in pointing out some of the "symptoms." I'm not trying to put a square peg into a round hole here, but I want to make sure I'm not missing the diagnosis because if I had EDS, so much would make sense! I don't want be grey - I want to be postive or negative.

Thanks Chaos - I'll look up those threads. And I brought up CFS to this Dr. to which she said there does seem to be a connection for people with EDS. Weird about them not looking at the large joints - seems kinda important??

Altruism - that's interesting that they will be re-classifying. Maybe that will help clear up confusion. I hope your test is negative.

Monica - I hope putting the pieces together will lead to effective treatment for you.

[Chaos]

Yes there IS a lot of confusion about EDS- especially type 3/HM type because there still isn't a genetic test for that one. Depending on where you look for statistics they say 10-15% of the general population has hypermobility of their joints. Not all of them have EDS by any means and not all of them even qualify as having BJHS (Benign Joint Hypermobility Syndrome). But, if you look at the criteria for BJH(S) and the criteria for EDS 3/HM type they are basically the same thing so that's why there is a LOT of debate between geneticists and rheumatologists about whether or not EDS 3 and BJHS are in fact one and the same. Basically the geneticists, as I understand it anyway, are saying until they find a gene for it, you can't say for sure but the rheumatologists are saying they sure look the same based on criteria, so if it looks like a duck and acts like a duck....

I was actually diagnosed by a geneticist who made the same argument as above...since there isn't a genetic test and it looks like EDS 3, then that's what she's calling it.

Naomi- I think Beighton criteria also include things like functional gut issues like IBS etc. I'll see if I can find a link for them.

[arizona girl]

Chaos, I'm wondering about the eds thing too. When I saw the genetic doc about the mthfr she noted I had mild hypermobility and made mention of high dose vitamin c. However she also got the mthfr treatment wrong and gave me folic acid script instead of methylfolate. She is also a professor at the UofA in az.

Of note I can do the thumb almost, I can do all my fingers at the first joint 90 degrees. I can bend just the the tips of my fingers down. I can put touch my hands behind my back vertically. My right ankle rolls and I fall off of it.

However the areas that cause me the most discomfort are pain and spasms of my right si, hip, glut and hip flexor and my upper and mid back and where the first back joint meets the neck. When those are out I have a lot of pain. I also have gi issues which I assume are due to the sfn, I have trouble with dry eyes nose and mouth. High norepi on standing and then I have the immune stuff on top of that.

With your experience with eds does these seem connected to you? My treatments for the different things are improving things but I still have'nt cleared many of the symptoms completely and I wonder if I'm missing something? I don't think I have the mast stuff as I dont really flush or have obvious allergy symptoms and I'm so dry I don't like taking antihistamines as they further dry things out. I have to take them for my infusion. If you have any insight I'd be grateful.

[Chaos]

Arizona girl- I'll pm you so we don't hijack the thread.

[Chaos]

For anyone who is interested, the book Hypermobility, Fibromyalgia and Chronic Pain, Edited by Alan J Hakim, Rosemary Keer and Rodney Grahame is a nice reference book on JHS and other HDCT issues. It goes into the overlapping issues that people with all these diagnoses seem to have. I got if off Amazon.

http://www.hypermobility.org/diagnosis.php

Here is the link for the Beighton Criteria for anyone who wants it. It doesn't list IBS as a criteria, but IBS is a very common complaint amongst people with JHS or EDS-HM according to multiple sources, including the book listed above.