Child with TONS of celiac symptoms but negative blood test

[parentwithquestions]

My son (age 7, almost 8) has had GI issues for several years.  Almost 2 years ago (about a week after he turned 6), we had him tested for celiac and his blood test results were negative.  His test results were:  tTG IgA:  1; Immunoglobin A:  129.  I've read that false negative results do occur, but that typically it is an IgA deficiency that causes false negative tTg IgA results, and my son was not IgA deficient according to this blood test.  But his symptoms (some of which ebb and flow but which have been getting worse the last several months, include the following:

--Complaints of tummy pain and nausea

--Excess gas, bloating

--Stools often look abnormal:  mucous in stool, often very bulky stools, gassy, explosive bowel movements, etc.

--Extremely low BMI (He has always been below the 3rd percentile for weight, with height in the 50-75th percentile, but at his check-up in January (age 7.5), he fell off his height curve (weighed 42 pounds and measured 48.5 inches) 

--Oral health issues:  He not infrequently complains of canker sores; At dentist visit a couple weeks ago, they discovered 4 cavities (This was the first time he allowed x-rays to be taken).   There may be some discoloration of his teeth as well, but I'm not 100% sure it the same kind of enamel defect I've read about.  I did not think to ask dentist about celiac at the time but I've since read about connections between oral health and celiac. 

--weird blood test results:  I went back and looked at the blood tests that were taken 2 years ago, and it turns out some of the abnormal results can be linked to celiac.  For example:  Low cholesterol (Total Cholesterol was 114), which I read can be linked to malabsorption of fats caused by celiac; High Asbolute Eosinophils (result:  791; normal range is 15-600).  And Lo and behold, according to google, high eosinophils can be associated with celiac.  He also had low MPV results and high triglycerides.  Not sure what those mean.  Some of the abnormal results (like the eosinophils) are also linked to allergies (he has seasonal allergies), and to other auto-immune diseases -- we have a family history of ulcerative colitis so that is also a concern. 

We tried a gluten fee diet for about a month several months ago, but I don't think it was ever 100% gluten free -- there were several times we were tripped up by school or after school snacks, and meals when traveling.  Prior to the time we tried the gluten-free diet, my son was not really complaining about his tummy troubles (they have ebbed and flowed --over the last several years, there have been period where sometimes 3-5 times a week he has bouts of nausea and pain, and months long periods with very few complaints).  At the time we tried a gluten-free diet, he was probably in one of the months long periods of feeling pretty good, few complaints.  My recollection is we dropped the gluten-free diet because we didn't see a big difference.   But my son recently told me he felt a little better on the gluten-free diet.

I'm pretty sure the next step is to do the endoscopy/colonoscopy.  The GI doctor suggested this last year, given our family history of ulcerative colitis and unexplained symptoms, but we were hesitant to put him through this when, at the time, he was feeling pretty good.  But his symptoms have come roaring back the last several months, and at this point, we just want to find the answer.  We will plan to wait to restart a gluten-free diet until after the endoscopy.  So my questions:

--Does anyone have experience with a false negative blood test result, particularly in children?

--How bad is the endoscopy procedure?  What should we expect during the prep and after the procedure?

--Any insight into what his symptoms mean?

 

[kareng]

Has he had a recent blood test for Celiac?  That would be where I would start. If it is still negative, I would look for other things, like a FODMAP issue.

[Jmg]

Hello and welcome

If you can dig out the full test results you could post them here. It may be that one or another of the possible tests wasn't ran, some celiacs only register on one:

Anti-Gliadin (AGA) IgA
Anti-Gliadin (AGA) IgG
Anti-Endomysial (EMA) IgA
Anti-Tissue Transglutaminase (tTG) IgA
Deamidated Gliadin Peptide (DGP) IgA and IgG
Total Serum IgA

You could certainly ask for another test, that would be less invasive. But it sounds as if the GI is willing to take a look regardless.

Quote

-How bad is the endoscopy procedure?  What should we expect during the prep and after the procedure?

I found the procedure rather unpleasant to be honest but I was fully awake and I suspect they may give your son a general anesthetic. Here's a guide for parents from a UK hospital: Open Original Shared Link that may be of some use.

Quote

-Does anyone have experience with a false negative blood test result, particularly in children?

There are people on here who tested negative but had positive biopsies. I tested negative for celiac at both blood and biopsy but I have a problem with gluten and react positively to the gluten-free diet. That condition is tentatively named Non Celiac Gluten Sensitivity and is still largely an unknown quantity. 

There is also research that suggests some who remove gluten may actually have a problem with fodmaps as Karen says above. That seems to be linked to those who have IBS type symptoms rather than neurological. 

Finally there are other things which could cause some or all of your sons symptoms. SIBO is often mentioned here. 

Quote

-Any insight into what his symptoms mean?

They read like many of the celiac accounts I've read here, but it can cause so many symptoms that it's easy to jump to the conclusion that it's to blame. I think your GI has the right idea. Although it's difficult to put a little one through a procedure like that it would perhaps give you an answer that could help him for the rest of his life? 

Due to my experience I also suggest if the test results are negative you still give the gluten-free diet a proper chance to see if it can help him. It helped me!

Best of luck to you both

Matt

[parentwithquestions]

Thank you very much for these responses.  The celiac tests I mentioned above were the only tests done.  I think I am going to request that they redo those earlier tests, and run the full panel, including genetic tests, now that he is 2 years older with worsening symptoms.  At this point, it is likely we will go through with the endoscopy/colonoscopy in any event since he is also at high risk of inflammatory bowel disease (ulcerative colitis), and we just want a definitive answer one way or the other.  I fear the IBD diagnosis the most --  celiac  can be treated just with a gluten-free diet, so it is not as scary to me as thinking about the IBD possibility.  

I had never heard of SIBO before so I will be sure to ask about that at our upcoming appointment.  I had read about FODMAP before and if we continue to get negative results, I think the next step will be to work with a dietician and experiment with dietary changes like that.

[Jmg]

Sounds like a good plan. Remember that once you've finished testing there's nothing to stop you trialling the gluten-free diet, don't assume that a negative for celiac means gluten isn't a problem...

[Feeneyja]

Also be aware that you can have more than one condition simultaneously. Many folks with gluten intolerance (celiac or NCGS) also have SIBO and/or Fodmap intolerance.   My daughter was diagnosed with SIBO. She was negative for celiac disease but even when SIBO-free reacts to gluten (some GI, but primarily neurological symptoms).  Unfortunately, it's not always clear cut. 

[GFinDC]

11 hours ago, parentwithquestions said:

...

--How bad is the endoscopy procedure?  What should we expect during the prep and after the procedure?

--Any insight into what his symptoms mean?

 

For my recent endoscopy I was put out temporarily.  Didn't feel or know a thing untill it was over and I was back in the recovery room.

The university of Chicago celiac center recommends 12 weeks of eating a little gluten every day before the blood antibody tests.  And 2 weeks of gluten eating before the endoscopy.

[cyclinglady]

I only test positive to the DGP IgA (even in follow-up testing) and my biopsies were a Marsh Stage IIIB.  Thankfully, my GI ran the entire panel!  Most doctors prefer the good, but cheaper TTG IgA test, but it does not catch all celiacs like me.   In fact, it often does not catch young children and really old people based on a few pretty recent studies.  I would also suggest requesting the rest of the celiac panel.  

Keep advocating!  ?

[ironictruth]

My sibling is biopsy positive but antibody negative. 

Was the genetic test run? 

I was fine with one scope and sick to my stomach after the other due to the meds. Easy cure the next time around was to give anti nausea meds. Other then that, it was a breeze. 

[BeeGfree]

I have checked statistics and over 80% of those tested for celiac come out negative, so it is a difficult thing to prove to begin with.   My test came out negative too, but I know I have dermatitis herpetiformis, my doctor diagnosed me even without an official test.   After I cut out gluten I felt like a totally new person, so to me that is proof enough.     I just went with my instinct and cut it out anyway even tho nothing was 100% proven, and I feel So much better!

[kareng]

5 minutes ago, BeeGfree said:

I have checked statistics and over 80% of those tested for celiac come out negative, so it is a difficult thing to prove to begin with.   My test came out negative too, but I know I have dermatitis herpetiformis, my doctor diagnosed me even without an official test.   After I cut out gluten I felt like a totally new person, so to me that is proof enough.     I just went with my instinct and cut it out anyway even tho nothing was 100% proven, and I feel So much better!

I am not sure where you got your statistics?  It seems a bit misleading. Of course, if many people are tested, not all of them have Celiac.  For example, my non-symptomatic kids get tested every few years and it is always negative. 

I think the statistics to check are the tests accuracy.  The current blood tests are quite accurate.

People with DH don't always have enough antibodies in the bloods to test positive (another statistic you could look up).    But all the doctor has to do is properly test the DH rash to confirm Celiac.