EDS-expert for severe GI-problems

Malea

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I have a question for a close friend who is in urgent need of help.

She has myopathic EDS, dysautonomia, ptose of stomach and colon, CCI/AAI and her jugular veins seem to be compressed (they are visibly thick and swollen).

Since years she can’t really eat and drink anymore because of extreme pain and pressure in the stomach. For weeks now, there is also practically no digestion even when doing daily enemas. All of this feels very close to complete failure/shutdown of the GI-tract.

She receives TPN over a port but the veins seem to collaps when it’s given. (Jugular Veins growing visibly thicker and thicker during i.v. until she has to stop)
Her long-stomach hangs down to the bladder and her colon is also way too low. She really needs the right kind of surgery but doctors here in Germany have veeery different opinions about which surgery to do. None of them has any background with EDS. They also don’t take the jugular vein compression thing seriously.


So my most important question is:
Does anyone of you know of a EDS or other expert somewhere in the world she could contact that deals and has experience with this kind of severe GI-problems?



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Edit Extra information:
There might be questions about possible compression disorders coming up. She is diagnosed with nutcracker, an atypical form of MALS* and SMA, for which she already had surgery that brought no relief.
It is not very clear how these disorders are related to the ptose of the organs.



*the hypertrophic diaphragm presses the truncus during inhalation.
 

kangaSue

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Wow, that's one helluva symptom set to be dealing with! They raise the possibility of another couple of conditions to test for too as far as the GI stuff is concerned, CIPO (Chronic Intestinal Pseudo Obstruction) because of myotonia, and Autoimmune Autonomic Ganglionopathy, this latter one more because the few people I know of personally who have AAG also have EDS. However, t it does seem to be the case from the medical literature that other EDS'ers frequently pop as an affected patient group.

The same actually goes for the abdominal compression syndromes and it's mostly EDS'ers who have all of the big four together, Nutcracker Syndrome, MALS, SMA Syndrome and May-Thurner Syndrome. The lax ligaments and stretchy connective tissues in EDS can contribute to visceroptosis which causes a crowding of the abdominal organs so vascular structures and nerves can all be subject to compression.

Do you know what surgery has been done for these compressions? They all need to be addressed to get full resolution and even then, symptoms reoccurring are common for one reason or another. I know from being in Facebook groups for these conditions that a lot of international patients travel to Germany to see Dr Scholbach (in Leipzieg) for imaging (he uses an enhanced ultrasound technique) and his surgical colleague Dr Sandmann to treat these, many of whom have EDS.

Most people I know of who have been treated by these doctors are very happy with the experience but I suggest joining the German MALS facebook group as there are a few disgruntled views about them being aired by some in the German community.

The GI symptoms here sound very much like chronic intestinal ischemia. Something I can suggest to try for is some sort of vasodilator med. I'm quite atypical for Nutcracker in that I have the bowel ischemia issue (pain soon eating, but also physical evidence of it was seen during a colonoscopy) that more commonly occurs with MALS and the only meds I have tried that goes anywhere near helping with pain from this are nitrates (nicorandil works best for me). If I don't take the nitrate, I can't sustain myself orally without causing significant pain, nausea and vomiting.

A Nutcracker Syndrome expert I know of in the USA (a kidney transplant surgeon) recommends using Cialis (tadalafil) for the chronic pain Nutcracker Syndrome can cause and I have seen in a few cases where this (or Viagra too) helps some people with their gastroparesis symptoms.
 

Malea

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Thanks a lot @kangaSue , from her, too.

This chronic intestinal ischemia sounds really interesting- for myself, too. I get very hurtful cramping when my tummy isn’t kept constantly superwarm and digestion than just stops. I often thought this could be a kind of blood flow thing. Will look into it, thanks.
 

kangaSue

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This chronic intestinal ischemia sounds really interesting- for myself, too. I get very hurtful cramping when my tummy isn’t kept constantly superwarm and digestion than just stops. I often thought this could be a kind of blood flow thing. Will look into it, thanks.
I can tell you from experience that chronic intestinal ischemia often gets ruled out as having anything to do with causing abdominal pain when there is no evidence of stenosis in any of the mesentery arteries but it can be a microvascular problem and something that is notoriously difficult to prove as the short episodes of gut ischemia caused by the increased metabolic demands for blood flow during the digestion process is not long enough to cause any significant pathology in the vast majority of cases.

I was 'lucky' to be an exception to the rule and had evidence of an ischemic bowel during a colonoscopy but the only vascular compromise I have good evidence of having is the occluded left renal vein (Nutcracker Syndrome), something which is not known to be a cause gut of ischemia.

Have a look at the following paper. There are few chronic gut ischemia experts in the world but these guys are involved with running the only GI ischemia clinic in the world and they are where I would go to be assessed for this, more so because they have developed a test (using visible light spectroscopy) that can detect mucosal ischemia when clinical signs are also suggestive of an ischemic problem.

This paper is about the only one I have found to specifically acknowledge that autonomic dysfunction can be a cause of gut ischemia, chronic non-occlusive ischemia (NOMI), and interestingly, all these abdominal vascular compression syndromes can also cause varying degrees of autonomic dysfunction. I also read in other papers by this crowd that they have seen over 200 MALS patient cases.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498801/

It was an earlier paper by a couple of these same authors that prompted me to try a vasodilator med for the pain caused by eating, and it improved symptoms significantly. Not a cure by any means but it is keeping me alive as I can't get by orally without it and don't tolerate either enteral feeding or TPN even with the med;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778114/
[see NOMI under the heading Chronic Splanchnic Syndrome, about halway down the page]