Too early for diagnosis?

[JForman]

Hi all, desperate mama here. 

It's been 2 years of doctors for us and our now 6 year old. I'll try and keep the story brief. Essentially, she is plagued with constipation despite a relatively well rounded diet. GI's initial answer was miralax daily, but they did run celiac labs.

Initially (June 2023) they came back as: 
Deamidated Gliadin Abs, IgA - 3 (negative) (strong positive is 30)
Deamidated Gliadin Abs, IgG -10 (negative) (strong positive is 30)
t-Transglutaminase (tTG) IgA - 3 (negative) (weak positive is 4-10)
t-Transglutaminase (tTG) IgG - 22 (positive range begins at 9)
Endomysial Antibody IgA - Positive
DQ2 - positive; DQ8-negative (Greater than 95% of celiac patients are positive for either DQ2 or DQ8 (Sollid and Thorsby, (1993) Gastroenterology 105:910-922). However these antigens may also be present in patients who do not have Celiac disease.)

We did a scope Feb 2023 and Marsh was 0 in 14 biopsies, so they said it's not celiac. 

Tested again in October 2023 and her t-Transglutaminase (tTG) IgG was still 20 (high) but Endomysial Antibody IgA was now NEGATIVE. I was in the process of going gluten-free myself, so a lot of family meals changed to gluten-free, so she was getting less gluten at that time. 

We have seen 2 GI (tested for celiac, barium enema normal), 2 urology (because of urine accidents -most likely caused by her constipation), neuro (did brain and spine MRI that said nothing was wrong there), PT, reflex integration therapy, & neurologically based chiropractic. We are now waiting on full exome genetic testing results (neuro wanted those). 

At this point, now Sept 2024, she is having stool accidents daily (sometimes multiple times per day). The stool, when it does leak out, is not typical "constipation rocks" - it's colored normally, no mucous, but STICKY and thick. Most of the time we have to use wet wipes or get in the shower to clean her off.  She has bouts of acid reflux, but not often. No complaints of stomach pain. 

So, my question: Is it possible we did the scope before damage was done? That had we waited longer/eaten more gluten we would have seen different results? Or, am I chasing celiac when the labs just don't support it? Should I go back to GI for another consult? (We haven't been there in about a year because of zero answers.)

Thanks for reading allll of this and any insights you can give....<sigh>

[trents]

Yes, it is certainly possible that you did the scope before damage was done to the small bowel villous lining. With children, the damage to the villi seems to lag behind the symptoms and their positive antibody tests. Their bodies are so resilient and I think it is also true that most adults have the onset of celiac disease long before the symptoms get bad enough to move them to get things checked out. So, adults have typically lived with the disease for years before they get scoped.

One blood test that seems never to have been done that should have been done, especially for children, is total IGA. This is not a celiac antibody test per se but is a test run to check for IGA deficiency. If someone is IGA deficient, there celiac IGA antibody tests, such as the ttg-iga, will be falsely low, often falsely negative, particularly if they are in the low positive range to begin with. I find it remarkable that your physician or physicians thought to run multiple celiac antibody tests, both iga and igg but did not test for IGA deficiency. Please see the paragraph entitled "IgA Levels/Deficiency Blood Test" from the this article: 

Timing of the blood draw and of the endoscopy/biopsy with regard to gluten consumption is critical. If the gluten free diet has already been started more than a week or so ahead of testing or even if gluten intake has been significantly curtailed beforehand it can sabotage test results.

If an official diagnosis or even an official rule out of celiac disease is important to you, then I suggest you restart her on a "gluten challenge" where she is consuming at least 10g of gluten (the amount in approximately 4-6 slices of bread) daily for several weeks and have blood antibodies retested with all the tests you listed above but with total IGA added in. And I would see if you could get a scope scheduled very soon after the blood test so she doesn't have to endure the gluten challenge any longer than necessary. Set both of them up in close proximity ahead of time.

On the other hand, she could have NCGS (Non Celiac Gluten Sensitivity) instead of celiac disease. NCGS shares many of the same symptoms of celiac disease but does not damage the lining of the small bowel as does celiac disease. There is no test for it. It is 10x more common than celiac disease. Some experts feel it can be a precursor to the development of celiac disease. Eliminating gluten is the antidote for both.

Another alternative is to put her on a gluten free diet now and see if her symptoms improve. That doesn't distinguish between celiac disease and NCGS but it will tell you if gluten is the issue or something else. And if her symptoms improve, you can always start the gluten challenge at a later date if you want to differentiate between celiac disease and NCGS.