10 Year Old Son's Labs

[Corrie]

I was diagnosed four years ago, and have been watching my son carefully. After reading a lot in May (Celiac Awareness Month) I was encouraged to have him tested. His is very small for his age-- 1% for height and 3% for weight, but both his parents are small. He also complains about his legs hurting. His doctor chalked it up to growing pains, but this kid hasn't grown more than 2 inches in the last 2 years. He doesn't have any GI symptoms, but neither did I.

Got him tested, and unfortunately they didn't do the EMA, but here's what I have:

DQ2: Positive, one copy

DQ8: Negative

Immunoglobulin A: 137. (Range 71-397)

Transglutaminase IGA 8.0 (negative < 4.0, weak positive 4.0 - 10.0, strong positive >10)

Transglut AB IGG 3.6 ( negative < 6.0, weak positive 6.0 - 9.0, positive > 9.0)

Gliadin Pep AB IGA 6.0 ( < 20 units) Note: this test was performed using a deaminated gliadin peptide assay. Negative < 20, weak to mod pos 20-30, positive > 30

Gliadin Pep AB IGG 16.1 < 20 units Note: this test was performed using a deaminated gliadin peptide assay. Negative < 20, weak to mod positive 20-30, positive > 30

We have an appointment coming up with a GI doctor at Cincinnati Children's, and he is continuing to eat gluten, as usual, in spite of our family doctor's advice to "go gluten light". I am assuming that with a positive TTG, he does have celiac. My fear is that they will either want to do an endoscopy and come up with a false negative because he is just starting with the disease, or they will want to "wait and see" if he gets worse.

I just thought I'd put it out there to this wonderful group of celiacs and see what anyone else thought.

Thanks.

[plumbago]

Hello,

 

You didn't say what age your child was. I understand your fears that the docs will just want to do the small intestine biopsy. That is probably true. However, if he hasn't grown in two years, is it possible that - if he has celiac disease - he's had it for a while now? Again, because we don't know the age, I can't tell the normal growth rate of children that age. There are ages when growth rate is slow (for everyone, on average).

 

So it looks like he tested positive for one gene, but not both, right? According to a video I watched By Dr Hasan Hasan from 2011, it seems both must be present for a positive diagnosis ("the deamidated gliadin has high affinity to HLA2 and HL8 which you have to have if you have celiac disease"), but our knowledge is expanding or being corrected all the time. And I may be wrong. Please double check.

 

As for the labs:

 

Immunoglobulin A: 137. (Range 71-397)

Transglutaminase IGA 8.0 (negative < 4.0, weak positive 4.0 - 10.0, strong positive >10)

 

The first one. The reason this test is done is to see the total levels because some people are IGA deficient which can be cause for a false negative result. People with celiac disease suffer from low total levels more frequently than the general population.

 

tTG-IgG (transglutaminase immunoglobulin A), the second one - this enzyme deamidates gliadin which is a broken down component of gluten. In reaction to the presence of TTG, the IGA is produced. Raised IGA indicates short term immune response - 2-4 weeks -to presence of d. My notes say that this is not a 100% specific, that there are other causes of a positive TTG IGA test such as diabetes, heart failure, Crohn's and others.

 

Transglut AB IGG 3.6 ( negative < 6.0, weak positive 6.0 - 9.0, positive > 9.0)

 

This test measures long term immune response to gluten (3-6 months sometimes up to a year preceding the test). Why this was negative if the TTG IGA was positive is not something I can explain easily or at all.

 

The last two tests basically are looking for reaction to gliadin. Maybe you know all this.

 

They didn't do EMA as you said, wihc is specific (>95% and >90% sensitive). According to my notes, "EMA antibodies correlate to degree of villous atropy." One thing you could do is call them back up and be firm and request the EMA.

 

People are going to tell you different things. I myself don't have much experience dealing with children, but it's a critical time obviously. Off the top of my head, the only thing that occurred to me is if you don't want to do the biopsy, then you could just start now to eliminate gluten and see how that goes. There are many necessary vitamins and minerals added to bread products with gluten, so just be aware of all that if you do go gluten-free.

Plumbago

[Corrie]

Thank you for responding. I hope others will as well.

My son is ten, almost 11. He weighs 52 pounds. He is a foot shorter than every other kid in his class.

As far as the elevated ttg possibly being from something else, according to blood work, he doesn't have diabetes and his thyroid is fine. He has no symptoms of Crohn's. Besides asthma and seasonal allergies, leg pain, and being very small for his age, he is healthy.

I'm ok with doing the biopsy after we get the ema, if the results point to the need. If a doctor is willing to give an official diagnosis without the biopsy, I'm fine with that too. I do want an official diagnosis though, as opposed to going gluten free without one. My boy is an obedient kid-- if his doctor tells him he has celiac and can't have gluten, he will strictly obey that. But I think he'll struggle with it in his head if he thinks it's just a hunch or there's nothing official. I also would like to have the diagnosis to help with dealing with the school (cafeteria, etc).

[cyclinglady]

How much gluten is he consuming? My kid eats gluten-free at home. I fed her plenty of gluten prior to her blood draw and her results were negative (symptom free and no anemia which was my issue). She gets gluten at school now, but that is it. She hardly gets gluten during the summer because we do not allow gluten in the house. Not sure if I would retest her after a summer of being at home. Do you think this might have impacted his results?

I agree with Plumbago in that you should get the complete panel and include the EMA test. Feed him tons of gluten prior to the GI appointment and the entire panel can be rerun again. I agree that he may just be presenting celiac disease now. But in any case, he should always be tested every few years even if his endoscopy is negative should you do that.

I will say, that I am not gene savvy!

Do not go gluten light! What does that solve? You either have celiac disease or you don't. If he has celiac disease a tiny amount is going to cause damage! That doctor is misinformed!

[plumbago]

Your doc and nurse should be curious about that leg pain.

 

I've read about associations between asthma (usually severe) and growth issues in children, but I don't know enough to say why this could be, other than any time a major organ is involved there are often growth issues, and then the steroid use, but inhaled corticosteroids are usually not a factor in growth, and after systemic corticosteroid use ends, growth resumes. Otherwise, as you say, both of your child's parents have short stature, so there may be zero cause for concern. I agree with the cyclinglady, that before diagnostic blood tests, you do want your child to be consuming gluten for sure. Otherwise, I have a very good book that says it may be possible to do an ultrasound of the small intestine wall. The book is Recognizing Celiac Disease: Signs, Symptoms, Associated Disorders and Complications by Celo J. Libonati with a foreward by David M. Capuzzi. If you are going to a nice Celiac center (lucky you! I hope you learn a lot) you may just ask them about the small intestine ultrasound.

 

Please keep us informed, if you wish, of what happens.

 

Plumbago

[nvsmom]

Generally speaking, a positive is a positive when it comes to celiac disease.    The tTG IgA is positive and it is about 95% specific to celiac disease.  Those 5% of false positives are generally caused by thyroiditis, diabetes (T1), crohn's, colitis, chronic liver disease or a serious infection like Lyme.  95% of the time a positive tTG IgA means celiac disease though.  Because he has a family history of celiac disease and the gene, plus he has symptoms of celiac disease, he is most of the way to a diagnosis.

 

Fasano, a leading celiac disease researcher, states that 4 of the 5 criteria should be met for a celiac disease diagnosis:

1. symptoms of celiac disease
2. positive blood tests (usually ttG but sometimes DGP)
3. positive genetic tests (DQ2 and / or DQ8)
4. positive biopsy (6+ samples taken)
5. positive response to the gluten-free diet

Open Original Shared Link

 

So far he is positive in #1, 2, and 3.  If you do the biopsy, hopefully the doctor will be aware that a negative does not discount his positive tTG IgA; it simply doesn't support it.  You are right that earlier celiac disease is harder to detect in the biopsy, so make sure as many samples as possible are taken  (more than 6).

 

If you have the EMA IgA done, and he has early celiac disease, it could be negative too.  the EMA generally detects more advanced celiac disease.  It is in response to the damage caused to the intestines by the tTG, and it basically goes in and wipe out the upper layer of villi.  If the EMA IgA is positive, then celiac disease is pretty much a sure thing (98-100% specific to celiac disease), and there is probably extensive intestinal damage that will be detectable in a biopsy.

 

That DGP IgG that was almost positive, is another highly specific celiac disease test. Even without a positive ttG IgA, my warning bells would have been going off at that result.

 

I agree with not going gluten-free or gluten light before seeing the gastro.  He may want to retest.

 

I also think that he should go gluten-free regardless of what the gastro says.  Try out that 5th criterion (after testing is all done) and see if he feels better.

 

And good catch.  Nice job.  

[StephanieL]

 

 

Fasano, a leading celiac disease researcher, states that 4 of the 5 criteria should be met for a celiac disease diagnosis:

1. symptoms of celiac disease
2. positive blood tests (usually ttG but sometimes DGP)
3. positive genetic tests (DQ2 and / or DQ8)
4. positive biopsy (6+ samples taken)
5. positive response to the gluten-free diet

Open Original Shared Link

 

 

 

I know I have mentioned this about a million times but want to restate, Dr. Fassano DOES NOT feel the 4 of 5 is enough to dx a child.  

[Corrie]

Thanks for all the input and things to consider. He is eating a ton of gluten. Toast for breakfast, sandwich for lunch, granola bars, pretzels, etc. He knows he might have celiac, but for now we have not made any changes to his diet. He is taking a multivitamin, and I also have him taking a Vitamin D and calcium supplement, thinking the leg pain might be from low D. I myself am very D deficient (taking 50,000 units every 6 days, and this has not improved since dx, even with strict adherence to the diet) and I ache a lot.

My plan for now is to ask the new GI doc to re-run the complete celiac panel, and not leave anything out. While he is taking blood, I'd like to ask he test for vitamin deficiencies. Besides D, iron, and the B's, does anyone have any other suggestions of what to check? Still undecided about the endoscopy. I guess I'll see what he says.

My family doctor admits he knows nothing about celiac, but even still, I was shocked he would recommend gluten-light. I pretty much stopped listening at that point because he was obviously ignorant. I will take some of his time next time I see him to set some of his misconceptions straight.

He does take a daily inhaled steroid to prevent asthma attacks. I have long assumed this was suppressing his growth. Me testing him for celiac was simply following up on the odds of him having it, as a family member, and trying to explain the leg pain.

As far as Dr. Faasano goes, why would 4 out of 5 not be sufficient? What else would a positive biopsy indicate? And what about silent celiac? Not everybody has symptoms, right?

Well, our appointment is in a few weeks. I'll post a follow up in case anyone wants to know. I always think about the people whose questions I read on here and wonder how it turned out for them.

[nvsmom]

Good luck!

[StephanieL]

As far as Dr. Faasano goes, why would 4 out of 5 not be sufficient? What else would a positive biopsy indicate? And what about silent celiac? Not everybody has symptoms, right?

 

He does not consider anything but a positive biopsy as proving Celiac for kids.  I don't know his reasoning (and I have TRIED to understand it and talk to him about it but no one can give me a real reason).

[plumbago]

Corrie,

 

Why not just get them to run a CBC, metabolic and lipid panels if your insurance covers it? If doing testing for Celiac, I can see that the other three panels are justified. Usually my doc runs those as standard anyway with my physical, ok I'm older but still. If you get all four panels run (including the Celiac one) you should be covered for things like calcium and iron, two other common deficiencies with celiac disease. The list for manifestations of celiac disease is long and does include things like low cholesterol.

Open Original Shared Link

(That is a link to what to get tested for. Link says it's for adults)

Running all those panels/labs just provides good clues as to what's going on, and gives you much more to work with IMO.

The whole discussion about Fasano's criteria is maybe not something I want to wade into partly because I thought you said your son is symptom free. Also as you noted, there is of course silent Celiac and the whole concept of the Celiac iceberg, which Fasano has talked a lot about as well, if I recall correctly.

The leg pain - one thing I was wondering about was B12 deficiency, but as you say it could be D.

As you no doubt know, abrupt discontinuation of steroids can lead to adrenal insufficiency, but I've always read that regular use of inhaled steroids should not lead to growth insufficiency, but maybe the idea was to just encourage people to take them regularly, since preventing an asthma episode is easier than dealing with one once it's started. Cortisol breaks down muscle tissue and bruises and striae may develop. There are a host of other side effects, but docs have gotten much better at knowing the right dosage to take.*

 

*Too much cortisol breaks down muscle tissue I should have said!

 

I just found this link:

"Inhaled corticosteroids may suppress growth in the first year of treatment in children with asthma, but lower doses may minimize the effects, according to findings of 2 systematic reviews published online July 17 in the Cochrane Library."

Open Original Shared Link

 

I like medscape a lot.

 

Good luck.

Plumbago

 

Added: Seems the fat soluble vitamins are important ones to get tested. Here's an article with a few comments on what vit and minerals to get tested for:

 

https://www.celiac.com/articles/23985/1/What-Are-the-Most-Common-Vitamin-Deficiencies-in-Celiac-Disease-Patients/Page1.html

[nvsmom]

Keep in mind that steroids may likely cause false negative celiac tests... that may be something to keep in mind.  

[plumbago]

That's a good point. Though the patient is supposed to be on the lowest dose possible of inhaled steroids and although steroid use for asthma is technically a local medication, it's possible for a systemic reaction to occur and definitely worth checking out. Also the association between asthma and celiac disease is supposedly strong, and something you've no doubt thought of by now. Once all this is settled and if your child does end up on the gluten-free diet, it will be interesting to hear what happens with his asthma. And finally not to get too inside baseball, if you do end up going with a small intestine biopsy, it may be worth checking with the medical team to see what his immune status is, as I've read that immunocompromised individuals may need prophylactic antibiotics before invasive procedures.

 

Plumbago

[StephanieL]

Keep in mind that steroids may likely cause false negative celiac tests... that may be something to keep in mind.  

 

Do you have a recent article for this? I know this use to be a thing but there hasn't been any new research on this being the case that I have seen (last stuff I saw was some mention of stuff from 20+ years ago).  Thanks!

[squirmingitch]

Open Original Shared Link

[plumbago]

Open Original Shared Link

Good link. Interesting that it didn't specify type of steroid use.

 

Plumbago

[nvsmom]

...Also the association between asthma and celiac disease is supposedly strong, and something you've no doubt thought of by now. Once all this is settled and if your child does end up on the gluten-free diet, it will be interesting to hear what happens with his asthma....

 

My oldest, who has gluten issues, although he tested negative on the tTG IgA, had his mild asthma disappear within months of going gluten-free.  I suppose it could have been a coincidence but I'm not a huge believer in medical coincidences.

 

Thanks for the link squirmingitch.  

Here is another:

Open Original Shared Link

[squirmingitch]

Good link Nicole.

[StephanieL]

Not a lot of information there. I was hoping for something a little more substantial. What's long term? How much? Oral? Inhaled? Does it matter the route they are given?

[nvsmom]

If I find more I'll post it.  To be honest, I haven't looked for articles on amounts and duration of steroids before.

 

This article discusses treating refractory celiac disease with steroids. It makes sense that damage is lessened if steroid are used as a treatment for some, but it doesn't get into any time frames. Open Original Shared Link

[plumbago]

The link you provided is for steroidal treatment for refractory celiac disease. I thought the context of our discussion was steroid use for asthma and its possible effect on a Celiac panel.

For refractory celiac disease, the treatment would be oral (systemic). Steroids for asthma and refractory celiac disease are not delivered by the same route, which can make a difference. One of the rationales for using inhaled corticosteroids is to minimize or even avoid systemic effects.

The most commonly listed side effects of inhaled CS are: oral thrush; dysphonia; and hoarse voice. To minimize these effects patients are taught to rinse the mouth. Even better is to use a spacer - there's less chance of systemic infiltration. However, as discussed, it is possible a systemic reaction and side effects can occur. But in general if we are talking about steroid use, the route (as well as dosage and how long it's been used) does matter.

 

Plumbago
 

[nvsmom]

True. I found nothing.  This was related to steroid use so I thought I'd post it with the hope it could be somewhat helpful.  Please disregard it if it is not relevant. I am far from an expert in the area of inhaled steroids.

[Corrie]

Well, here's the update. My son saw a wonderful pediatric GI doctor at Cincinnati Children's. The doctor took all my concerns very seriously, especially about his weight. He showed me the growth chart, and we looked at where Grant is on the chart-- he is moving along in a flat line, well below the minimums. Doctor explained that he would not be worried if he was tracking along with the chart and was simply below average, but the flat line was a major red flag. 

 

The hospital's labs used different ranges, but he did have an elevated TTG, well above normal. We went ahead with the scope and the biopsies came back positive for celiac. The follow up appointment included a meeting with a dietician and a TON of written information, including a binder an inch thick full of info. I wish I'd had that when I was diagnosed! Doctor wants to follow up with blood work in 6 months and see what happens. All in all it was such a positive experience-- much more than my own. 

 

Grant is absolutely taking it like a champ. He is embracing the diet and seems comforted that he and I are in it together. His birthday is in a few days and that will also be his official Goodbye to Gluten Day. I'm so glad I followed my intuition as well as the advice to have first-degree relatives checked. An irrational part of me feels guilty for passing along faulty genes to my sweet boy, but I guess that's just part of being a parent of a celiac. 

 

Thanks for your interest and advice!

[squirmingitch]

Corrie, I'm so glad you pursued & persisted! 

You said it yourself that your guilt is irrational. Grant sounds like a super kid and he's going to do fantastic!

Please, when you get a chance, will you post the ped GI's contact info. on the Doctor section? It would be great for parents looking for a celiac savvy GI in the Cincinnati area. It could save them going to doctor after doctor after doctor. Here's a link for the section:

https://www.celiac.com/forums/forum/6-celiac-disease-doctors/

[squirmingitch]

Thank you so much for posting the doctor & hospital in the Doctor section. One day that post is going to save some child (& parents) a whole lot of grief.