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.

 

 

 

[Russ H]

 

7 hours ago, JForman said:

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.

This could be steatorrhoea (fatty stools), which is a common symptom of coeliac disease due to fat malabsorption. Easy to perform a lab test for. Reflux is also a common symptom of untreated coeliac disease.

I think trents is correct that a total-IgA test is needed to rule out IgA deficiency.

 

[JForman]

7 hours ago, trents said:

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.

 

 

 

Thank for you such a lengthy response! She has been on gluten (eating whatever) for quite some time, and was when we did the scope after the first round of labs.

Lately, I’ve been feeling a bit “crazy,” after so many doctors have been unable to find a root cause for her troubles. Your insight is helping me feel less so.

I do have NCGS. Or I suppose it could be celiac. I’ve just never been tested. I realized a few years ago if I have gluten, I get a horrible rash on my scalp and my eyelids, get gassy, the like. 

Wouldn’t it be important to determine if she does have celiac, to prevent cross contamination and prepare her for the future? I know taking her off gluten and living a gluten-free lifestyle without testing is an option, but wouldn’t it be best to know for sure if it’s celiac? 

Is there any kind of directory I could access to find a celiac specialist? Our GI was fine, but when the scope was negative it felt like he threw all possibility of it being celiac out the window, not considering some of the basic things youve said here. And he’s the one who ordered the labs I reported above. We are cash pay in the US, so it may be that he was trying to save us money by not ordering it. Not sure. 
 

Thanks again! 

[JForman]

1 hour ago, Russ H said:

 

This could be steatorrhoea (fatty stools), which is a common symptom of coeliac disease due to fat malabsorption. Easy to perform a lab test for. Reflux is also a common symptom of untreated coeliac disease.

I think trents is correct that a total-IgA test is needed to rule out IgA deficiency.

 

Thanks so much. I will definitely look into this. 

[RMJ]

1 hour ago, JForman said:

Is there any kind of directory I could access to find a celiac specialist? Our GI was fine, but when the scope was negative it felt like he threw all possibility of it being celiac out the window, not considering some of the basic things youve said here. And he’s the one who ordered the labs I reported above. We are cash pay in the US, so it may be that he was trying to save us money by not ordering it. Not sure. 
 

Thanks again! 

Celiac associations have some directories of physicians:

National Celiac Association Pediatrics directory

Celiac Disease Foundation searchable directory

 

[trents]

The importance of determining whether or not your daughter has celiac disease as opposed to NCGS in relation to cross contamination may be a false paradigm. There seems to be this assumption out there that if you have NCGS you don't have to be as careful in avoiding gluten as you do if you have celiac disease. We now know that gluten can be harmful in many ways to our body systems that transcend damage to the small bowel villi. And our two neat little pigeon holes of NCGS vs. celiac disease may be quite inadequate. It may not be quite that cut and dried. And some experts believe that NCGS can be a precursor to celiac disease. If that is so, are there transition stages that may avoid detection by our current testing modalities or which may cross the line back and forth for awhile between NCGS and celiac disease? But I also wonder what has kept you, the parent, from getting tested yourself? Shouldn't you be willing to nail that down if you want to do so for your daughter? And might it be helpful to her diagnosis to know whether or not you have celiac disease. After all, there is a definite hereditary component to celiac disease. The study results are all over the map but somewhere between 10% and over 40% of the first degree relatives of those with celiac disease will themselves develop active celiac disease. 

And if nothing else, get your daughter's total IGA tested.

[JForman]

3 hours ago, trents said:

The importance of determining whether or not your daughter has celiac disease as opposed to NCGS in relation to cross contamination may be a false paradigm. There seems to be this assumption out there that if you have NCGS you don't have to be as careful in avoiding gluten as you do if you have celiac disease. We now know that gluten can be harmful in many ways to our body systems that transcend damage to the small bowel villi. And our two neat little pigeon holes of NCGS vs. celiac disease may be quite inadequate. It may not be quite that cut and dried. And some experts believe that NCGS can be a precursor to celiac disease. If that is so, are there transition stages that may avoid detection by our current testing modalities or which may cross the line back and forth for awhile between NCGS and celiac disease? But I also wonder what has kept you, the parent, from getting tested yourself? Shouldn't you be willing to nail that down if you want to do so for your daughter? And might it be helpful to her diagnosis to know whether or not you have celiac disease. After all, there is a definite hereditary component to celiac disease. The study results are all over the map but somewhere between 10% and over 40% of the first degree relatives of those with celiac disease will themselves develop active celiac disease. 

And if nothing else, get your daughter's total IGA tested.

It's funny you say that because as I was typing about my potential issues with gluten, I thought "wait. Why haven't I gotten tested." Honestly, it comes down to money and time. We have been pouring tens of thousands into her care (We don't have traditional medical insurance). And I have been off gluten for so long and have such quick and noticeable reactions when I do consume it, that I really don't want to have to eat it again! But, you have me thinking perhaps I should. 

Thanks for the information cross contamination. That is very helpful! 

6 hours ago, RMJ said:

Celiac associations have some directories of physicians:

National Celiac Association Pediatrics directory

Celiac Disease Foundation searchable directory

 

Thank you! 

[JForman]

3 hours ago, trents said:

The importance of determining whether or not your daughter has celiac disease as opposed to NCGS in relation to cross contamination may be a false paradigm. There seems to be this assumption out there that if you have NCGS you don't have to be as careful in avoiding gluten as you do if you have celiac disease. We now know that gluten can be harmful in many ways to our body systems that transcend damage to the small bowel villi. And our two neat little pigeon holes of NCGS vs. celiac disease may be quite inadequate. It may not be quite that cut and dried. And some experts believe that NCGS can be a precursor to celiac disease. If that is so, are there transition stages that may avoid detection by our current testing modalities or which may cross the line back and forth for awhile between NCGS and celiac disease? But I also wonder what has kept you, the parent, from getting tested yourself? Shouldn't you be willing to nail that down if you want to do so for your daughter? And might it be helpful to her diagnosis to know whether or not you have celiac disease. After all, there is a definite hereditary component to celiac disease. The study results are all over the map but somewhere between 10% and over 40% of the first degree relatives of those with celiac disease will themselves develop active celiac disease. 

And if nothing else, get your daughter's total IGA tested.

I just realized we had labs from another place as well. 

Not sure if any of these is the "total IGA" you mentioned: 
Jan 2023 - TISSUE TRANSGLUTAMINASE AB, IGA was 17.5 (15 considered high)
Jan 2023 - Immunoglobulin A  was 90 (range is 22-140) 
 

[trents]

The Immunoglobulin A is aka "total IGA" and it is not deficient at 90.

Tissue Transglutaminase AB, IGA, aka "ttg-iga" is the most popular celiac antibody test run as it is inexpensive and combines excellent sensitivity with very good specificity. It is typically the first blood test tool out of the physician's diagnostic bag and the best single one in the absence of IGA deficiency. When it is positive, there is only about a 5% chance that it would be due to something besides celiac disease. 

 

 

 

Edited September 30, 2024 by trents

[Wheatwacked]

On 9/29/2024 at 10:52 PM, JForman said:

t-Transglutaminase (tTG) IgG - 22 (positive range begins at 9)
Endomysial Antibody IgA - Positive
DQ2 - positive;

Since you are gluten sensitive, and your daughter has positive tests and the doctors don't have any ideas that help, the next step is a Gluten free diet.  It does'nt really matter Celiac or NCGS.  The only treatment is avoid gluten.  Don't make her suffer because of medical beauracracy.  Vitamin and mineral deficiencies are common in Celiac Disease.

This may help understanding the tests.  

Are You Confused About Your Celiac Disease Lab Results?

"The result is a person who becomes more and more ill from a disease that they later find could have been prevented by removing gluten from their diet. If they had only had their lab test interpreted correctly, they could have stopped eating gluten and prevented the development of a disease that is now shortening their life."

[Wheatwacked]

On 9/30/2024 at 7:54 AM, JForman said:

This could be steatorrhoea (fatty stools), which is a common symptom of coeliac disease due to fat malabsorption.

This is often deficiency of choline, primary source is eggs, liver, beef.

Choline deficiency results in hepatic steatosis.

[JForman]

2 hours ago, Wheatwacked said:

This is often deficiency of choline, primary source is eggs, liver, beef.

Choline deficiency results in hepatic steatosis.

We eat beef multiple times a week and eggs nearly daily. I will look into choline deficiency though! Thanks! 

2 hours ago, Wheatwacked said:

Since you are gluten sensitive, and your daughter has positive tests and the doctors don't have any ideas that help, the next step is a Gluten free diet.  It does'nt really matter Celiac or NCGS.  The only treatment is avoid gluten.  Don't make her suffer because of medical beauracracy.  Vitamin and mineral deficiencies are common in Celiac Disease.

This may help understanding the tests.  

Are You Confused About Your Celiac Disease Lab Results?

"The result is a person who becomes more and more ill from a disease that they later find could have been prevented by removing gluten from their diet. If they had only had their lab test interpreted correctly, they could have stopped eating gluten and prevented the development of a disease that is now shortening their life."

Thanks so much! 

[Wheatwacked]

There is a food list for choline in this fact sheet from NIH

Choline Fact Sheet for Health Professionals

the safe range for a 6 year old girl is 250 mg to 1000 mg.

Beef, ground, 93% lean meat, broiled, 3 ounces is 72 mg.

Egg, hard boiled, 1 large  is 147 mg.  

Lecithin contains about 3–4% choline by weight.

That's not considering the malabsorption Celiac Disease causes. Vitamin and mineral deficiency comes with the territory and doctors, though they always say "check with your doctor" too many don't seem to have a clue about their functions.  Often regarded as old wive's tales and snake oil.  A nutritionist with Celiac experience would be helpful.

Note: Adequate Intake (AI): Intake at this level is assumed to ensure nutritional adequacy

Recovery needs more than adequate.  500 mg a day from food or capsules should show improvement in a week or so.

Also expect to find deficiency in vitamin D, B1 and B5. Vitamin B5 deficiency may include symptoms such as fatigue, insomnia, depression, irritability, vomiting, stomach pains, burning feet, and upper respiratory infections.