Ehlers-Danlos without hypermobility?

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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.
Hello Apple,

Indeed google says there are over 200 disorders that impact connective tissue. But is this list of disorders available? Has anyone seen it? Which are these 200 disorders?
 
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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.
Usually if it is autoimmune then it has to be with other signs like inflammation. Lupus for example, that's an autoimmune disorder. The defective connective tissue on the other hand is a problem in the genes which are supposed to make the necessary proteins.
 

Dmitri

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Usually if it is autoimmune then it has to be with other signs like inflammation. Lupus for example, that's an autoimmune disorder. The defective connective tissue on the other hand is a problem in the genes which are supposed to make the necessary proteins.
Something in the genes that cause defective connective tissue also happens to cause immune dysregulation. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209734/

We found that several structural deformities or deficiencies (i.e. club foot, hereditary angioedema, primary hypogammaglobulemia), non-inflammatory diseases (fibromyalgia, erythromelaglia), and autoimmune/inflammatory diseases (psoriasis, PsA, AS, RA, inflammatory eye disease, autoimmune thyroiditis, SLE, Crohn’s disease, pernicious anemia, and TRAPS) were significantly more prevalent in the CWU HEDS population than in the general population of the US.
Inflammation can be hard to detect. I have Behcet's and neuropathy, but my ESR and CRP always come back normal.
 

Rlman

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@Dmitri have your read @jeff_w 's posts on this forum? may be informative for you. he has cranial settling / craniocervical instability. in any case you seem to be aware of those issues. beyond the measurement facebook group is informative too
 

kangaSue

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Inflammation can be hard to detect. I have Behcet's and neuropathy, but my ESR and CRP always come back normal.
Good point and I've seen the same comment made on numerous occasions by others with different inflammatory conditions.

It's the same case for me with GI problems. Gastritis, duodenitis and colitis can be seen doing scopes but ESR and CRP is always normal. Fecal calprotectin level is a better indicator here (of mucosal inflammation).
 

Dmitri

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@Dmitri have your read @jeff_w 's posts on this forum? may be informative for you. he has cranial settling / craniocervical instability. in any case you seem to be aware of those issues. beyond the measurement facebook group is informative too
I read jeff_w's posts and joined that facebook group. Last year, I spent a lot of time trying to find out if there's any structural deformity in the cranio-cervical region before finally seeing a neurosurgeon who was supposed to be a Chiari specialist. He told me that it's very unlikely that I have either Chiari or CCI, but I'm looking to get another opinion. Main problem is the lack of Chiari specialists who accept my insurance.

Good point and I've seen the same comment made on numerous occasions by others with different inflammatory conditions.

It's the same case for me with GI problems. Gastritis, duodenitis and colitis can be seen doing scopes but ESR and CRP is always normal. Fecal calprotectin level is a better indicator here (of mucosal inflammation).
My upper GI endoscopy showed only mild gastritis and duodenitis, but the pain there can be extreme and radiates throughout my body. I know that a scope can't see neuropathy, which I'm guessing is what the main reason of the visceral pain is. I wonder how vasculitis of the gut would look visually?

I had a colonoscopy last week as well, visually normal despite all the symptoms, now waiting on the biopsy results. There is regularly occurring maroon-colored in the stool, and there were small chunks of bloody tissue being discharged during the preparation. If there is bleeding, is it most likely in an unreachable part of the small intestine? I've had hemorrhoids before, and the blood looks much different from the darker streaks of blood on the stool.
 

Rlman

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I read jeff_w's posts and joined that facebook group. Last year, I spent a lot of time trying to find out if there's any structural deformity in the cranio-cervical region before finally seeing a neurosurgeon who was supposed to be a Chiari specialist. He told me that it's very unlikely that I have either Chiari or CCI, but I'm looking to get another opinion. Main problem is the lack of Chiari specialists who accept my insurance.
did you consult with one of the 3-4 chiari specialists that jeff_w mentioned? dr bolognese reads the scans for free but if sees problem does consult for a price. maybe at least if they say he wants a consult that would be sign there is an issue? have you done upright mris?
 

kangaSue

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My upper GI endoscopy showed only mild gastritis and duodenitis, but the pain there can be extreme and radiates throughout my body. I know that a scope can't see neuropathy, which I'm guessing is what the main reason of the visceral pain is. I wonder how vasculitis of the gut would look visually?

I had a colonoscopy last week as well, visually normal despite all the symptoms, now waiting on the biopsy results. There is regularly occurring maroon-colored in the stool, and there were small chunks of bloody tissue being discharged during the preparation. If there is bleeding, is it most likely in an unreachable part of the small intestine? I've had hemorrhoids before, and the blood looks much different from the darker streaks of blood on the stool.
I mentioned having a Doppler Ultrasound done of your mesentery arteries earlier in the thread, did you happen to have one of those done as Chronic Mesenteric Ischemia (CMI) can explain your GI symptoms. This typically causes epigastric pain that can radiate.

This is what I was eventually diagnosed with when a colonoscopy perforated my bowel. There was no stenosis in the major bowel arteries so the GI's concluded it was a microvascular blood flow problem. The tricky thing with CMI is that the ischemic periods tend to be short lived and don't cause any pathology to go on.
 

Dmitri

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did you consult with one of the 3-4 chiari specialists that jeff_w mentioned? dr bolognese reads the scans for free but if sees problem does consult for a price. maybe at least if they say he wants a consult that would be sign there is an issue? have you done upright mris?
I had upright neck MRIs with flexion and extension. Both positions were painful to stay in. I was unaware that Dr. Bolognese reads the scans for free, the sites and practices associated with him keep changing. I reached Dr. Gilete's office, another recommended NS, and the cost for him to review the MRI is 250€ which I can't afford at present.

I mentioned having a Doppler Ultrasound done of your mesentery arteries earlier in the thread, did you happen to have one of those done as Chronic Mesenteric Ischemia (CMI) can explain your GI symptoms. This typically causes epigastric pain that can radiate.

This is what I was eventually diagnosed with when a colonoscopy perforated my bowel. There was no stenosis in the major bowel arteries so the GI's concluded it was a microvascular blood flow problem. The tricky thing with CMI is that the ischemic periods tend to be short lived and don't cause any pathology to go on.
I will ask about it when I finally see my GI doctor again. The constant pain I feel in my intestine is of a burning and throbbing nature and feels like there's boiling water inside, this is the pain that radiates all over my body.

The other pain is more of an acute cramping, occurs several times a year and is one of the worst pains I experienced in my life, it makes me drop to the floor. If I were to describe it, it feels like there's clogs in the bowel and the intense cramping pain doesn't resolve until it's unjammed.

I suppose that both of these can be caused by ischemia?
 

kangaSue

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I had upright neck MRIs with flexion and extension. Both positions were painful to stay in. I was unaware that Dr. Bolognese reads the scans for free, the sites and practices associated with him keep changing. I reached Dr. Gilete's office, another recommended NS, and the cost for him to review the MRI is 250€ which I can't afford at present.

I will ask about it when I finally see my GI doctor again. The constant pain I feel in my intestine is of a burning and throbbing nature and feels like there's boiling water inside, this is the pain that radiates all over my body.

The other pain is more of an acute cramping, occurs several times a year and is one of the worst pains I experienced in my life, it makes me drop to the floor. If I were to describe it, it feels like there's clogs in the bowel and the intense cramping pain doesn't resolve until it's unjammed.

I suppose that both of these can be caused by ischemia?
Can't say I've experienced it as a burning and throbbing pain but I can identify with the acute cramping pain.

I was getting these about once a month and couldn't pass any wind until it "unclogged" too. That usually took 2 or 3 jabs of fentanyl at ER to break the cycle and yes, it's the the worst pains I have ever experienced in my life. These tapered off a while after starting a nitrate med and haven't had a really bad one for the best part of 2 years now..