I just copied my last journal entry on my caring-bridge site.
Wednesday, January 19, 2011 8:52 PM, CET
Searching the professional journals for a possible relationship between my intestinal dysmotility and the new endocrine issues I do find very much information, mainly about
multiple endocrine neoplasia type 2 which is induced by a mutation in the RET-gene. This mutation induces development of various neuro-endocrine tumor secreting variable hormones which cause in turn the endocrine problems.
This genetic defect frequently causes intestinal dysmotility of varying degree of severity which is often described as the presenting feature and firs manifestation of the disease. Intestinal dysmotility is caused by pathological changes of the enteric nervous system, either by aganglionosis (total lack of ganglion(=nerve) cells)/hirschsprung's disease (in which even patients with the sporadic form of hirschsprungs disease that is unrelated to multiple endocrine neoplasia (MEN) can carry the RET-mutation, yet in another
location of the sequence of the RET gene) or by intestinal ganglioneuromatosis in which enteric nerve cells are mainly hypertrophied (=enlarged) and increased in number.
My immunochostochemical anylsis of the resected large bowel specimen revealed one time changes of the enteric nervous system (hypoganglionosis, which is reduction of the number and size of ganglion cell) when the analysis was performed from German pathologist whereas it revealed a defect of the enteric smooth muscles when it was done by the pathologist of the Italian expert who is one of the leading researchers in the pathology of CIP.However, the tissue samples were of minor quality when they eventually arrived in Italy, whic hampers a firm statement.
In a subtype of hypoganglionosis aslight mutation in the RET gene can be found, too whereas in other cases there is no obvious link with this gene mutation.
It's interesting that I found some articles which described MEN 2 patients with ganglioneuromatosis and severe dysmotility syndroms who exhibited a clinical image of their digestive symptoms and an abnormal contractility of their GI tract during small bowel manometry which showed both neuropathic and myopathic components of the underlying motor defect.
I also had a small bowel manometry which measures the contractility of the the smooth muscles (which eventually cause peristalsis of the gut, together with some other minor but important factors like microflora, hut hormones etc. In this tsudy, my small bowel motility was abnormal and the contractile paatern was suggestive of an intrinsic neuropathy.
Moreover, there is increasing awareness that overlapping syndromes and several variants and incomplete forms of MEN and related genetic diseases do happen, and that these patients may be overlooked due to absence of typical clinical picture or phenotype.
All in all (and considering my endocrine symptoms plus presence of some physical traits described in MEN syndromes), I would have enough reason to go for a a genetoc testing. Yet, the endocrinologists in Germany (who diagnose genetic diseases in general here since there are no clinicicans of genetics - scientists of genetic science and labs do exist but they do not deal with the patient; they just do research and the tests the enocrinologists order) do not have any clue about
the possible relation with GI dysmotility and MEN2 by a common gene mutation.
Regarding the possible alterations of the enteric nervous system and the the smooth muscles: They were originally clearly discriminated and categorized in myopathy (damage in the smooth muscles) and neuropathy (damage in the enteric nervous system).
In recent years, as better techniques for analysis of the bowel tissue have become available it has become clear that this strict discrimation is not right and that there are mixed forms (neuro-myopathies) and variants.
Thus, a putative neuro-myopathy could be consistent with my clinical image and my symptoms. However, I have no defenite pathological label due to the minor tisse quality and the lack of competence in terms of pathological changes in CIP of the German docs.
I would need further full thickness samples.
Apart from researching I have had pretty bad days.
I am again suffering from nerve pain which is induced by the over-doses of antibiotics I have to use to have an acceptable degree of bladder/urethral pain.
i had been able to reduce the dosis in the meantime but little is needed to induce a deterioration I can hardly stop; thus I can only take more pills again which automatically brings the nerve pain back.
Moreover, I still have a very bad bout of bacterial overgrowth; I quit trying to clear it up since the microflora is anyway massively disturbed by the antibiotics.
since the last week I have been experiencing a constriction feeling in my intestines. It feels as if soemone clinged around my belly and pressed the air out of me. I know this feeling from my in-patient stay in June/July 2009 when I had a 4 months-trial of tube feedings.
I described this feeling in one of the forums where perople with motility issues have a platform and try to help each other, and some people with CIP did confirm/know this feeling. I guess it's the gut trying to work, but is does not happen coordinatedly.
I wonder if this feeling may ba a preform of my severe spasms in the colon I had. They had started with this feeling, too, andhad been raising then to a unbearable spastic waves. Don't know if this means that my small bowel is deteriorating?
Until one week ago I had not experienced this feeling any more. When I have/had abdominal pain after eating it's mostly of another character. It's directly related to distension and its more of a constant intense pressure, thus I call it distension pain as I can literarily feel the distended bowel loops. The worst pain I ever had were those colonic spasms which had finally developed in the begining of my process toward the end-stage of my colon disease and had been progressing to an almost unbearable condition until my last surgery.
The constriction feeling it's not directly related to eating, at least it does not occure directly after eating. In the last week I have had it multiple times daily whereas I experienced it only on some days during my trial of tube feedings.
Post Edited (pelztier86) : 1/19/2011 4:12:43 PM (GMT-7)