Invest in ME Conference 12: First Class in Every Way
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Ehlers-Danlos without hypermobility?

Discussion in 'Connective Tissue Disorders/Ehlers-Danlos Syndrome' started by Dmitri, Oct 15, 2016.

  1. Dmitri

    Dmitri Senior Member

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    Most resources about Ehlers-Danlos syndrome emphasize the joint hypermobility and/or skin elasticity aspects without making it clear whether it's possible to have it without these “textbook symptoms”. Despite being familiar with EDS for years, I just kept brushing it aside until recently because those features didn't apply to me. What led me to suspect is the variety of morphological deformities I present with such as scoliosis, pectus excavatum, overbite, peyronie's disease, etc. These are strongly indicative of a connective tissue disorder. In addition, I have many of the common comorbidities such as dysautonomia, strongly suspected MCAS, severe digestive problems, etc. amounting to at least 75% of the problems listed on this page: http://ohtwist.com/about-eds/comorbidities/

    Since I am not hypermobile (on the contrary, my body is quite stiff and achy), I didn't pass the Beighton test. My rheumatologist then referred me to a geneticist for evaluation on EDS and Marfan's, who unfortunately won't see me until March. I know that at least part of this genetically rooted. My mother was diagnosed with CFS, POTS, Sjogren's and MCAS and shares many of my symptoms. My maternal grandmother contracted a 'flu that never went away' in her 40s. A difference between me and them is their lack of the morphological problems that I have. I think it's because of my onset happening during infancy, meaning my skeletal system formed post-trigger, after the deadly reaction to antibiotics, whereas both my mother and grandmother were debilitated during middle age. I understand that a relatively normal period of life followed by a “trigger” of some sort, usually injury, infection or chemical exposure, is a common pattern in this spectrum of illnesses. The only other common markers of EDS I can think of – my joints often crack with movement and I always discover scratches and bruises of unknown origin on my skin, but I never thought much of it.

    One of my worst lifelong symptoms is the severe headache that I have radiating from the base of my skull to my head, neck, and trapezius regions. It's a very nasty pain accompanied by a feeling of pressure as if I'm deep underwater and ringing in my ears. The pain worsens with standing , swallowing, bending down, etc. Chiari malformation would explain this pain with such precision, but my brain and neck MRIs were interpreted as being normal.

    It's also worth noting that some specialists are classifying MCAS as a variety of EDS...
     
  2. Apple

    Apple Senior Member

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    I was thinking about this recently too. I have almost identical problems to the girls with EDS that I follow on IG, all except the hypermobility. The pots/dysautonomia, the ibs, gerd, delayed stomach emptying, the neurogenic bladder, interstitial cystitis, muscles/ joint pain, multiple allergies, raynaud's, chilblains, possible erythromelalgia, right down to the ridiculously sensitive easily damaged skin. But no hypermobility. At all. Although I do believe I have subluxed a few times. Like you, I am very stiff and creaky/crackly.

    I've also been thinking perhaps it's another type of connective tissue disorder. Any connective tissue issue that affects you internally could lead to dysautonomia, surely. And dysautonomia certainly causes a lot of our symptoms. But according to google there are over 200 disorders that impact connective tissue.. so not exactly easy to narrow it down. :thumbdown:

    ETA: my dad also some symptoms that could be caused by connective tissue problems although nothing like i have, indicating some type of genetic cause.
     
    Last edited: Oct 15, 2016
  3. kangaSue

    kangaSue Senior Member

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    I don't know a whole lot about it but Hypermobility type EDS is just one of six types of EDS and, while all the literature does point to there being some sort of joint laxity with all forms of EDS, I have encountered at least a handful of people in various forums who have a diagnosis of EDS with only subtle signs of joint laxity that they hadn't noticed before until their movement range was put under the spotlight.

    With the likes of Vascular type EDS, it is only the digits that display a laxity so it can't be ruled out I guess until you have been comprehensively tested for connective tissue disorders.
    http://ehlers-danlos.com/eds-types/
     
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  4. MissCB

    MissCB

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    I'm curious about this as well.. My symptoms mimic yours and I even had to have jaw surgery to correct my bite. I'm wondering if one can have a type of it, such as vascular, without it being full blown.

    I have extremely swollen blood vessels and very thin skin at 29 years old but do not think I have full EDS. I, too, am pretty stiff but do have POTS. I've been researching this and will let you know if I can find anything.
     
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  5. Paralee

    Paralee Senior Member

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    @Dmitri , I've always been very "bendy" and have been called when a kid "double jointed", but I'm afraid if I have EDS it also includes the circulation type. Have you had an ultra sound done on your neck that the tech comments on how large your arteries/veins (can't remember which) are that run along side your esophagus?

    I didn't realize tmj and gut problems, besides joints and aches/pains, were also signs.
     
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  6. wastwater

    wastwater Senior Member

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    I was wondering if I may have some rare variation of EDS just tagging the post really
     
  7. Dmitri

    Dmitri Senior Member

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    I saw a geneticist last week and he diagnosed me with marfanoid habitus with nothing else conclusive until an echocardiogram and ophthalmology examination. According to the Brighton criteria, I definitely have it. Joint pain is something I suffered from when I was very young but it has long since stopped.

    https://www.ehlers-danlos.org/about-eds/getting-a-diagnosis/brighton-score/

    I never had an ultrasound of the neck, only head and neck MRIs. The radiology report was unremarkable but I need another opinion because I'm sure something was missed.
    [​IMG]

    [​IMG]
     
  8. Paralee

    Paralee Senior Member

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    @Dmitri , looks like you have the high roof in your mouth. What is the red circle pointing out?

    Also, I have read that Marfan's don't always have a tall slim shape. Do you?.
     
  9. PennyIA

    PennyIA Senior Member

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    I've been trying to get screened for EDS. I don't really have hypermobility either, although I have been much more flexible in my youth which has decreased as I got older. Examples include being able to spend hours with my feet on the floor and my bottom on my heels in a full out squat without pain (but not since my ACL was replaced); and being able to clasp my hands together behind my back with one of the arms up and over my shoulder, but not since my shoulder injury.

    I do have several of the more general symptoms which makes it really hard to make it clear cut.

    I'm not completely convinced, but would love to get screened as my mother suffered recurrent aneurysms which is possible that she might have had the vascular form. It would explain one of the symptoms I have that don't fit into a ME/CFS diagnosis (my frequent spontaneous rib dislocations).
     
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  10. Dmitri

    Dmitri Senior Member

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    It always felt like my palate is too high arched and narrow. The back molars can't fit completely and I have a deep overbite. The geneticist checked the interior of my mouth as part of the examination that led to the Marfanoid diagnosis, so perhaps that was factored in. I have a tall, slim body type but it's not exaggerated like in stereotypical cases of Marfan's. Armspan is 186 cm, slightly greater than my height of 183 cm. I think my combination of pectus excavatum and scoliosis were the main signs for the diagnosis.

    In the MRI screenshot I encircled what looks like the odontoid pressing against the brainstem http://www.thepainrelieffoundation.com/craniocervical-instability/

     
  11. Paralee

    Paralee Senior Member

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    @Dmitri , live and learn. I never knew it could be so complicated. I hope you can get this fixed.
     
  12. Complex CFSer

    Complex CFSer

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    I have EDS (diagnosed as HEDS but have good reason to suspect I may be CEDS or HEDS/CEDS). I recently saw this article which explains how EDSers can be hypermobile and become stiff over time https://pdfs.semanticscholar.org/8ef6/c6ee38f094b4aa4718757659e2b9531ce151. pdf?_ga=2.133259341.272107468.1501954525-506072921.1501954525

    I too have scoliosis and possible CM1 but the NHS would only provide a supine MRI and I will not be convinced until I've had an upright one (for the reasons shown in the images in the article you linked to).

    Dmitri just to be aware that the Beighton isn't and never was intended for diagnostic use. http://edsresearch.weebly.com/the-brighton-score-and-the-beighton-score.html

    Glad I read that link because I see I still score clinically by the Brighton score. I suspect I have cervical instability also, certainly plenty of neck and spinal issues.
     
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  13. Kenshin

    Kenshin

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    I have many of the symptoms you describe, I have "semi" loose joints, meaning, my fingers can bend a bit more than normal, my joints click when I walk, but I can't touch my tongue to my nose or anything extreme.
     
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  14. Dmitri

    Dmitri Senior Member

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    I was seen a few months ago by another geneticist who specializes in EDS and Marfans, without getting a diagnosis this time again. I was informed that, earlier this year, the diagnostic criteria was updated and made more strict on the justification of "overdiagnosis".

    The last rheumatologist I saw believed I have EDS. It was discovered that my shoulders are hypermobile and I can do a "reverse namaste" easily with no prior training. Shoulders are unfortunately not factored into the Beighton criteria. I don't know if scoring 0 on it was the reason I didn't get diagnosed again. I didn't get any genetic testing either and was told that I definitely don't have any of the genetically detectable variants of EDS, and that hypermobility type is the only remote possibility.

    What I wonder now is whether growing up with an autoimmune connective tissue disorder can lead to one developing EDS-like morphological traits.
     
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  15. PhoenixDown

    PhoenixDown Senior Member

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  16. kangaSue

    kangaSue Senior Member

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    @Dmitri Just revisiting this thread and have a thought on your headaches that I don't think I've mentioned to you before.

    One little known cause of headaches can be left renal vein compression. The increased venous pressure with this can reroute the return blood flow from the left kidney into the spinal tract and the increased pressure there can then lead to causing headaches, probably from a slight increase in intracranial pressure.

    Think about having a Duplex Dopppler Ultrasound scan done of your mesentery arteries to rule this out if you haven't already had one done. A (any) doctor may be able to detect an abdominal bruit too in listening to your bowel sounds and another indication that blood flow isn't happening as it should do.
     
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  17. Starlight

    Starlight Senior Member

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    Is there a treatment for EDS.? .it seems to be very hard to get any one with the expertise to diagnose..I don't know much about it but the connection with ME is recent,I think.
     
  18. Dmitri

    Dmitri Senior Member

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    Thanks for bringing this possibility up, first time hearing of it for me. Could this compression occur intermittently or is it supposed to be constant? I've looked all over the place to pinpoint the cause of my headaches, and the symptoms of low ICP and high ICP appear to be symptomatically indistinguishable.

    One of the commonalities in those diagnosed with ME, Lyme, autoimmune disease or else anything involving autonomic dysfunction are complaints of this "coathanger" type headache, which also describes my own headaches accurately. Most of the hypotheses appear to link it to muscle ischemia, or the brain stealing blood from the neck muscles due to poor circulation. This sounds like it could be related to left renal vein compression as well.

    I have two, separate headaches. They are in constant co-existence, but their severity occurs separately. Besides the one I described in detail, the other centers around my face and temples, and it's of a throbbing nature. I feel it radiating from my gut because I have throbbing there simultaneously whenever it's severe, and sometimes squeezing my abdomen against a solid surface can numb the pain in my face a bit.
     
  19. Dmitri

    Dmitri Senior Member

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    There's no direct treatment for EDS besides attempting to control the joint instability as far as I know. But EDS appears to come with a predisposition towards countless other chronic illnesses that the article I linked mentioned, all of which have their own complications and treatments (or lack thereof), ME being among them.

    I've given up on trying to get an EDS diagnosis. I should have acted earlier, before the criteria was changed. This is going to leave a lot of patients in the dark and open to abuse via psychosomatic accusations.
     
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  20. kangaSue

    kangaSue Senior Member

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    @Dmitri I'm not certain about it but I think I've heard it mentioned that NCS (Nutcacker Syndrome) can cause a coathanger headache in some people. The symptoms of NCS are so wide and varied that no two people have the same ones, headache is not something I get though with having NCS.

    The compression can be worse, or only occur to cause symptoms, when you are upright, particularly in those cases where they have a floating kidney (renal ptosis) for which reason, a Doppler Ultrasound needs to be done in both a supine and sitting or standing position. It's usually a case though where pelvic and abdominal symptoms are concerned that the longer you are on your feet, the worse the symptoms get.
     
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