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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.
     

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