Inconclusive results

[deanna1ynne]

Dd10 was tested for celiac four years ago bc two siblings were dx’d (positive labs and biopsies). Her results at the time were positive ema  and ttg (7x the UL), but a negative biopsy. We checked again three months later and her ttg was still positive (4x the UL), but ema and biopsy were negative. Doc said it was “potential celiac” and to keep eating gluten, but we were concerned about harming her growth and development while young and had her go gluten-free because we felt the labs and ema in particular were very suggestive of early celiac, despite the negative biopsies. She also had stomach aches and lethargy when eating it. We just felt it’d be better to be safe than sorry.

Now, four years later, she doesn’t want to be gluten-free if she doesn’t “have to be,” so underwent a 12 week gluten challenge. She had labs done before starting and all looked great (celiac panel all negative, as expected.) Surprisingly, she experienced no noticeable symptoms when she began eating gluten again, which we felt was a positive sign. However, 12 weeks in, her labs are positive again (ttg 4x the UL and ema positive again as well). Doc says that since she feels fine and her previous two biopsies showed nothing, she can just keep eating gluten and we could maybe biopsy again in two years. I was looking up the ema test and the probability of having not just one but two false positives, and it seems ridiculously low. 

Any advice? Would you biopsy again? She’s old enough at this point that I really feel I need her buy-in to keep her gluten-free, and she feels that if the doc says it’s fine, then that’s the final word — which makes me inclined to biopsy again and hope that it actually shows damage this time (not because I want her to have celiac like her sisters, but because I kind of think she already does have it, and seeing the damage now would save her more severe damage in the long run that would come from just continuing to eat gluten for a few more years before testing again.) 

Our doc is great - we really like him. But we are very confused and want to protect her. One of her older sibs stopped growing and has lots of teeth problems and all that jazz from not catching the celiac disease sooner, and we don’t want to get to that point with the younger sis.

fwiw- she doesn’t mind the biopsy at all. It’s at a children’s hospital and she thinks it’s kind of fun. So it’s not like that would stress her out or anything.

[Scott Adams]

This is a challenging and confusing situation. The combination of a positive EMA—which is a highly specific marker rarely yielding false positives—alongside strongly elevated TTG on two separate occasions, years apart, is profoundly suggestive of celiac disease, even in the absence of biopsy damage. This pattern strongly aligns with what is known as "potential celiac disease," where the immune system is clearly activated, but intestinal damage has not yet become visible under the microscope. Your concern about the long-term risk of continued gluten consumption is valid, especially given your family's experience with the consequences of delayed diagnosis.

Since your daughter is now at an age where her buy-in is essential for a gluten-free lifestyle, obtaining a definitive answer is crucial for her long-term adherence and health. Given that she is asymptomatic yet serologically positive, a third biopsy now, after a proper 12-week challenge, offers the best chance to capture any microscopic damage that may have developed, providing the concrete evidence needed to justify the dietary change. This isn't about wanting her to have celiac; it's about wanting to prevent the insidious damage that can occur while waiting for symptoms to appear, and ultimately giving her the unambiguous "why" she needs to accept and commit to the necessary treatment.

This article might be helpful. It breaks down each type of test, and what a positive results means in terms of the probability that you might have celiac disease. One test that always needs to be done is the IgA Levels/Deficiency Test (often called "Total IGA") because some people are naturally IGA deficient, and if this is the case, then certain blood tests for celiac disease might be false-negative, and other types of tests need to be done to make an accurate diagnosis. The article includes the "Mayo Clinic Protocol," which is the best overall protocol for results to be ~98% accurate.

 

 

[knitty kitty]

Don't skimp on the gluten daily while undergoing the gluten challenge!

 

[deanna1ynne]

Thank you both very much.

I’m pretty familiar with the various tests, and my older two girls with official dxs have even participated in research on other tests as well. I just felt overwhelmed and shocked that these recent results (which I found pretty dang conclusive after having scott clean labs just six months ago) would still be considered inconclusive.

Doc said we could biopsy in another six weeks because my daughter was actually way more upset than I anticipated about the idea of eating it for years before doing another biopsy. It doesn’t hurt her, but she’s afraid of how it may be hurting her in ways she can’t feel. She’s currently eating mini wheats for breakfast, a sandwich with lunch, and a side of pasta along with every dinner, so I’m hoping we’re meeting that 10g benchmark mentioned in that second article!

[Wends]

Wow, the system is crazy isn’t it? Maybe switch Doctors if you can. It’s surprising from what you’ve written it seems obvious it’s celiac disease. The “potential” diagnosis means celiac is developing and it basically just hasn’t done enough gut damage to be captured on the biopsy yet, and meet that “criteria” to satisfy the current system! Given the overwhelming evidence already - family history, positive ttg and ema. And your own experience and intuition which counts far more. And the labs being reproduced after gluten elimination and reintroduction- elimination and reintroduction diet is the gold standard too. Shame on the Doc and the system. What was the Marsh score? I’m guessing not 0 if it’s potential celiac. Meaning the autoimmune process has been triggered and started. Your daughter is obviously very healthy and her immune system is putting up a good fight. It can take years for the gut damage to build to a point where there’s overt symptoms and then a conclusive diagnosis, hence why many celiacs receive diagnosis later in life. You can prevent it. See the positive and the gift in that. Hopefully the gluten challenge confirms it, but if it doesn’t maybe get a second opinion?

[deanna1ynne]

The first negative biopsy in 2021 just said "no pathological change" for all the samples, and the second one in 2022 said "Duodenal mucosa with mild reactive change (focal foveolar metaplasia) and preserved villous architecture." So I think Marsh score 0 in both cases, though it's not actually written in the pathology reports. I'm really hoping to get a clear positive result this time, just for her sake.

 

[deanna1ynne]

And thank you for your encouragement. I am glad that her body is doing a good job fighting it. I also just want clarity for her moving forwards. She was only 6 for the last round of testing and she's 10 now, so I'm also hoping that makes a difference. It was weird during her last round of testing though, because right before her biopsy, we'd upped her gluten intake by giving her biscuits made from straight up vital wheat gluten, and her labs actually normalized slightly (lower ttg and her ema went negative). Bodies just do weird things sometimes! lol

[Wends]

34 minutes ago, deanna1ynne said:

And thank you for your encouragement. I am glad that her body is doing a good job fighting it. I also just want clarity for her moving forwards. She was only 6 for the last round of testing and she's 10 now, so I'm also hoping that makes a difference. It was weird during her last round of testing though, because right before her biopsy, we'd upped her gluten intake by giving her biscuits made from straight up vital wheat gluten, and her labs actually normalized slightly (lower ttg and her ema went negative). Bodies just do weird things sometimes! lol

Lol that’s so true!

Hope you get clarity, it’s tough when there’s doubt. There’s so much known about celiac disease with all the scientific research that’s been done so far yet practically and clinically there’s also so much unknown, still.

Out of curiosity what’s her dairy consumption like? Even compared to early years to now? Has that changed?

Calcium is dependent in the mechanism of antigen presenting cells in the gut. High calcium foods with gluten grains can initiate inflammation greater.  This is why breakfast cereals and milk combo long term can be a ticking time bomb for genetically susceptible celiacs (not a scientific statement by any means but my current personal opinion based on reasoning at present).

Milk and wheat are the top culprits for food sensitivity. Especially in childhood. There are also patient cases of antibodies normalising in celiac children who had milk protein intolerance/ delayed type allergy. Some asymptomatic. There were a couple of cases of suspected celiacs that turned out to have milk protein intolerance that normalised antibodies on a gluten containing diet. Then there were others that only normalised antibodies once gluten and milk was eliminated. Milk kept the antibodies positive.

Celiac disease is complicated to say the least.

[deanna1ynne]

3 hours ago, Wends said:

Lol that’s so true!

Hope you get clarity, it’s tough when there’s doubt. There’s so much known about celiac disease with all the scientific research that’s been done so far yet practically and clinically there’s also so much unknown, still.

Out of curiosity what’s her dairy consumption like? Even compared to early years to now? Has that changed?

Calcium is dependent in the mechanism of antigen presenting cells in the gut. High calcium foods with gluten grains can initiate inflammation greater.  This is why breakfast cereals and milk combo long term can be a ticking time bomb for genetically susceptible celiacs (not a scientific statement by any means but my current personal opinion based on reasoning at present).

Milk and wheat are the top culprits for food sensitivity. Especially in childhood. There are also patient cases of antibodies normalising in celiac children who had milk protein intolerance/ delayed type allergy. Some asymptomatic. There were a couple of cases of suspected celiacs that turned out to have milk protein intolerance that normalised antibodies on a gluten containing diet. Then there were others that only normalised antibodies once gluten and milk was eliminated. Milk kept the antibodies positive.

Celiac disease is complicated to say the least.

She has been dairy free for six years, so she’d already been dairy free for two years at her last testing and was dairy free for the entire gluten challenge this year as well (that had positive results). However, now that we’re doing another biopsy in six weeks, we decided to do everything we can to try to “see” the effects, so we decided this past week to add back in dairy temporarily for breakfast (milk and cereal combo like you said).

[Wends]

Be interesting to see the effects of dairy reintroduction with gluten.

As well as milk protein sensitivity in and of itself the casein part particularly has been shown to mimic gluten in about 50% of celiacs.

Keep us posted!

[Wends]

https://onlinelibrary.wiley.com/doi/10.1111/joim.70025

Very recent (September 2025) Finland study may be of interest. Borderline negative and low positive ant-TTG, with negative and positive EMA tests in patients diagnosed with Celiac Disease.

[Scott Adams]

Very interesting--thanks for sharing that study!

[deanna1ynne]

Thank you all so much for your advice and thoughts.

We ended up having another scope and more bloodwork last week. All serological markers continue to increase, and the doc who did the scope said there villous atrophy visible on the scope — but we just got the biopsy pathology report back, and all it says is, “Duodenal mucosa with patchy increased intraepithelial lymphocytes, preserved villous architecture, and patchy foveolar metaplasia,” which we are told is still inconclusive… 

We will have her go gluten free again anyway, but how soon would you all test again, if at all? How valuable is an official dx in a situation like this?

[Scott Adams]

Keep in mind that there are drawbacks to a formal diagnosis, for example more expensive life and private health insurance, as well as possibly needing to disclose it on job applications. Normally I am in favor of the formal diagnosis process, but if you've already figured out that you can't tolerate gluten and will likely stay gluten-free anyway, I wanted to at least mention the possible negative sides of having a formal diagnosis.

While I understand wanting a formal diagnosis, it sounds like she will likely remain gluten-free either way, even if she should test negative for celiac disease (Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If her symptoms go away on a gluten-free diet, it would likely signal NCGS).