Conflicting results

[Jy11]

My 7yo has been complaining of tummy aches for some months. Bloods show very low iron and vitamin D. We have had multiple bloods as follows…

1. TTg 0.3 (normal) IgA deficient 

2. TTg 6.6 (cut off is 7) IgA 0.54 (cut off is 0.5 so only just over not being deficient)

3. TTg 3 (cut off 7) EMA Positive

We are awaiting biopsy but why are the blood results so conflicting? Is it likely he is coeliac? We have strong family history with dad having coeliac plus other relative.

Can positive EMA be caused by anything other that coeliac disease? It has been bought up the EMA could be from other inflammation but I can’t find any studies that say this? 
 

thank you. 

[trents]

Welcome to the forum, @Jy11!

The way you have posted his blood antibody test results is very confusing. TTg and IgA are not two different tests. These abbreviations should be combined into one expression: TTg-IgA.

You seem to have listed the same test twice in 1. and 2. but with different results.

Is the way you have posted the results exactly as they appear on the printout you were given? I cannot make heads or tales of the data you supply the way you have posted it.

But let me say this. At the very minimum, there are two blood tests that should be run when checking for celiac disease: 1. total IGA and 2. tTG-IGA. The total IGA test looks for IGA deficiency. If a person is IGA deficient, then individual IGA tests scores will be artificially low and can result in false negatives. The most popular individual IGA celiac disease test ordered by physicians is the tTG-IGA. The EMA test is an older test that is not often ordered anymore and has largely been replaced by the tTG-IGA. The EMA test is expensive to conduct. However, if the EMA is positive, it is a highly accurate test and strongly suggests that the person does have celiac disease. 

To summarize: 1. a physician should always check for IGA deficiency. 2. tTG-IGA test results are expressed in terms of being "normal" or "high" but not "deficient". 3. EMA test results are expressed in terms of being "negative" or "positive". 

Here is an overview of celiac disease antibody testing: 

 

[Scott Adams]

I agree, is it possible that your child is IgA deficient, yet has positive results for their tTg-IgA result?

[Jy11]

He has had coeliac bloods repeated three times.

 

Ive tried to make them clearer but wont line up properly on my phone. 

 

1st bloods 
TTg IgA6.7    Normal range <7

IgA 0.2          Normal range 0.4-2

2nd bloods 
TTg IgA 2.4        Normal range <7

IgA  0.41          Normal range 0.4-2

3rd bloods 
TTg IgA3.6       Normal range <7

IgA 0.54           Normal 0.5-2.4

EMA Positive 

 

 

His IgA bloods are counted as normal but very close to the cut off for IgA deficient.. Apart from one where it actually was deficient 

[Scott Adams]

It looks to me like he's IgA deficient, or borderline IgA deficient, which means that his TTg-IgA test results for celiac disease will be lower than they actually should be. His first celiac disease test was still highly positive, even though he is IgA deficient, and this is a strong indication that he has celiac disease.

The fact that he's IgA deficient means that they should be doing other tests as well because the IgA-based tests won't be accurate.

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. In children they should also be doing DGP-IgA and DGP-IgG (Deamidated Gliadin Peptide), and because he's IgA deficient they should include TTg-IgG.

 

 

[trents]

Thanks. Now it all makes sense. So, it looks like he may be IGA deficient or on the cusp of it. So, the reliability of the tTG-IGA testing is dubious. Being that the EMA is positive, my money would be on him having celiac disease, especially with the symptoms he is experiencing. The next logical diagnostic step would be to have an endoscopy/biopsy done of the small bowel lining to check for damage. Has the physician mentioned this? Sometimes they are reluctant to do this on children. Please hear this: Before you attempt to put him on a gluten-free diet or even cut back on his gluten intake, make sure you aren't planning any more testing for celiac disease. Removing gluten from his diet will sabotage any future testing. From the way you spell "coeliac" I'm guessing you are in the UK so I realize there may be stipends and follow-up healthcare benefits available to your son if there is an official diagnosis of celiac disease. But I also understand it can take many months to get a procedure in place with the backlog in your healthcare system.

[Scott Adams]

PS - I forgot to mention, was he eating a lot of gluten daily for 6-8 weeks leading up to all blood tests? If not, this can cause lower than normal antibody results.

[Jy11]

Thank you. The borderline IgA deficiency  is something I was wondering.

Basically my query comes about because he had been offered an endoscopy to check for coeliac but a colonoscopy to check for IBD. We are keen to go ahead with endoscopy but trying to decide on the colonoscopy and the likelihood of it being coeliac is what is aiding our decision. His inflammatory bloods are normal and so are stool tests. We basically are trying to decide the likelihood of being coeliac… If that likelihood is high then we are wondering whether or not to put him through the stress of the prep for the colonoscopy. Or see if the endoscopy confirms coeliac then decide after… 

Just now, Scott Adams said:

PS - I forgot to mention, was he eating a lot of gluten daily for 6-8 weeks leading up to all blood tests? If not, this can cause lower than normal antibody results.

He has been eating gluten containing cereal plus toast… Then sandwich plus all snacks gluten! We are naturally a low gluten family as dad is coeliac. 

[Scott Adams]

As the article mentions:

EMA-IgA (endomysial antibodies IgA) Blood Test for Celiac Disease:

Quote

The sensitivity of a test refers to its ability to correctly identify individuals with the condition. For the EMA-IgA blood test, the sensitivity is generally very high, ranging from 90% to 98%. This means that the test can accurately detect celiac disease in a significant percentage of people who have the condition.

The specificity of a test refers to its ability to correctly identify individuals without the condition. For the EMA-IgA blood test, the specificity is also high, typically around 95% to 100%. This indicates that the test can effectively rule out celiac disease in individuals who do not have the condition.

tTG-IgA (tissue transglutaminase IgA) Blood Test for Celiac Disease:

Quote

The test is estimated to have a sensitivity of approximately 90%, which means that it correctly identifies 90% of people with celiac disease. It also has a high specificity of around 95%, which means that it correctly identifies 95% of people who do not have celiac disease.

So the likelihood is very high he has celiac disease, and even if the biopsy results turn out negative, I would still consider a gluten-free diet.

[Jy11]

Just now, Scott Adams said:

As the article mentions:

EMA-IgA (endomysial antibodies IgA) Blood Test for Celiac Disease:

tTG-IgA (tissue transglutaminase IgA) Blood Test for Celiac Disease:

So the likelihood is very high he has celiac disease, and even if the biopsy results turn out negative, I would still consider a gluten-free diet.

Thank you, I do feel the likelihood is high which is why I am reluctant to do a colonoscopy as I feel we will find the answer. Whatever the endoscopy says though and even if it were to be negative he will be going gluten free as the positive EMA has to mean something with symptoms and one parent coeliac. 

1 minute ago, Jy11 said:

Thank you, I do feel the likelihood is high which is why I am reluctant to do a colonoscopy as I feel we will find the answer. Whatever the endoscopy says though and even if it were to be negative he will be going gluten free as the positive EMA has to mean something with symptoms and one parent coeliac. 

But there is a niggling doubt as I try and make the right choice… I just want him to get better and be happy again! 

[trents]

Statistically, the incidence of IBS and other bowel disorders is higher in the celiac population than it is in the general population. Still, I would take one thing at a time. There is significant reason to believe your son does have celiac disease and there is no nasty prep needed for that endoscopic procedure. Assuming that he does have either celiac disease or NCGS, it is likely that a gluten-free diet corrects his symptoms and there would be no need to pursue a lower GI and it's nasty prep. 

I would also add that the immune system of a child his age is not mature. It's in flux. Because of this, celiac disease testing can yield erratic results. And I would also add that some experts believe that NCGS can be a precursor to the development of celiac disease. If this is true, there would seem to be transition phases.

I hope you will keep us posted.

Edited January 24 by trents

[Scott Adams]

23 minutes ago, Jy11 said:

Thank you, I do feel the likelihood is high which is why I am reluctant to do a colonoscopy as I feel we will find the answer. Whatever the endoscopy says though and even if it were to be negative he will be going gluten free as the positive EMA has to mean something with symptoms and one parent coeliac. 

But there is a niggling doubt as I try and make the right choice… I just want him to get better and be happy again! 

One study showed that up to 44% of first degree relatives also have celiac disease, so his odds of having it are quite high. Also, if he were not IgA deficient his celiac disease test scores would likely have been much higher because they were based on the IgA antibodies.

[Jy11]

1 minute ago, Scott Adams said:

One study showed that up to 44% of first degree relatives also have celiac disease, so his odds of having it are quite high. Also, if he were not IgA deficient his celiac disease test scores would likely have been much higher because they were based on the IgA antibodies.

Would you also agree that being so close to the IgA deficient cut off is significant? We just have been told he’s not as just over into the not deficient category…

 

thank you so much for all the help so far, it’s been so helpful!

[Scott Adams]

Yes, low IgA, even if it's just above the cut off at times, will affect the test results of any IgA tests. In your case it means that his scores would have likely been even higher if he had "normal" levels of IgA.

[Jy11]

Well the conflicting results continue as the biopsy has come back negative. 😵‍💫 Waiting to discuss further but I really don’t know what to think now? Eight biopsy’s were taken from duodenum which surely should be sufficient if it was coeliac? 

[Scott Adams]

It's possible he's in the early stages of celiac disease, and it has been caught before villi damage. The blood test results so far do indicate possible celiac disease, as well as his strong family history of celiac disease. If his symptoms get better on a gluten-free diet this would be another strong indication. Personally I think it's definitely better to proceed on the safe side and go gluten-free, rather than to risk severe villi damage and all that comes with it.