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Underweight child with possible Celiac - need help with how to diagnose correctly


newcon2021

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newcon2021 Rookie

My 11yr old son has been underweight and had not added any weight for last 1 year. He was on 40%ile weight curve for age 5-8. Then for age 9-11, he has dropped to 15%ile. The doctor recommended an anti-Celiac antibody test. The results are as follow GliaDea IgA=5.62, IgG=2.07 (<10 means negative); Anit-huTransG IgA=19.81, IgG=3.86 (Ref Interval is 0.00-20.00); EmA IgA=18.13, IgG=4.38 (Ref Interval is 0.00-20.00). Based on these results, doctor said he might have Celiac. So we requested a celiac genetic test. His report shows HLA-DQB1 06:02, 03:01 haplotypes which I was told is positive for DQ7 and negative for DQ2/DQ8. But I am not fully certain.  In the last 6months, upon reducing gluten (not gluten-free), he seems to have gained 1.5kg. We don't give him bread etc every day. Weekly 1-2 times he eats wheat based bread/bagel; 1 time per week or so wheat based cookies in friend's house etc. But otherwise, eats mostly gluten-free snacks, gluten-free cake, gluten-free breakfast.

Current Symptoms:

1. Gets full relatively quickly during lunch/dinner

2. Gets tired relatively soon

3. General weakness due to being low weight

4. Muscle fatigue 

Questions:

1. We want to do the antibody test again to see if TTG high score previously was a false positive. Will this level of gluten intake during last 6 month be enough to get accurate read for TTG/EMA?

2. Since he is DQ2/DQ8 negative and DQ7 positive, any idea on his chances of being celiac positive? Literature shows <4-5% possible.

3. When should we switch to strict gluten-free diet?

4. Can we avoid biopsy or is that absolutely necessary for accurate diagnostic for a child?

5. Could the weight loss be thyroid related and should we request the doctor for any thyroid check?

6. Looks like there is no other possible reason why TTG can be high other than Celiac. Is this true? Can something else cause higher TTG?


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trents Grand Master

There are some other causes for elevated TTG. Some medications and some bowel-related conditions other than Celiac can cause this but the TTG antibody test is considered to be pretty definitive for celiac disease.

Sounds like your son has been eating enough wheat to make testing valid, either the antibody test or the endoscopy/biopsy but the fact that he has seen some improvement on a lower gluten diet makes me hesitate to speak definitively. In the USA, physicians are reluctant to do scope pediatric patients and prefer to rely more heavily on the antibody tests. The standard recommendation for pretest wheat exposure is the equivalent of 1-2 slices of gluten-containing bread daily for 6-8 weeks before the blood antibody testing and 2 weeks before the endoscopy/biopsy.

Concerning the genetics question, we do know that occasionally people develop celiac disease apart from having the classic gene haplotypes. We also know that the classic gene haplotypes were developed for people of white European ancestry and that they are not the same for other races.

If your son has seen some improvement in his health from reducing gluten input that would seem to confirm a celiac disease diagnosis. Perhaps the next step would be to totally eliminate gluten from his diet. This would require the patient and the family to educate themselves as to where minor amounts of gluten are found in processed foods, meds and supplements and from cross contamination in the production, transportation, handling and processing by the food industry. It requires much diligence and can be socially awkward and limiting, especially at first. 

Scott Adams Grand Master

I agree with @trents that if you are going to try the gluten-free diet in this case it should probably be all or nothing--100% gluten-free would be the only way to see if his symptoms improve. It's your call, and your doctor's call, of course, but to do another gluten challenge properly could add a long time onto his recovery time. Doing a thyroid test makes sense, and keep in mind that some thyroid issues are associated with untreated celiac disease, and articles on this topic are here:

https://www.celiac.com/celiac-disease/celiac-disease-amp-related-diseases-and-disorders/thyroid-pancreatic-disorders-and-celiac-disease/

newcon2021 Rookie
14 hours ago, trents said:

There are some other causes for elevated TTG. Some medications and some bowel-related conditions other than Celiac can cause this but the TTG antibody test is considered to be pretty definitive for celiac disease.

Sounds like your son has been eating enough wheat to make testing valid, either the antibody test or the endoscopy/biopsy but the fact that he has seen some improvement on a lower gluten diet makes me hesitate to speak definitively. In the USA, physicians are reluctant to do scope pediatric patients and prefer to rely more heavily on the antibody tests. The standard recommendation for pretest wheat exposure is the equivalent of 1-2 slices of gluten-containing bread daily for 6-8 weeks before the blood antibody testing and 2 weeks before the endoscopy/biopsy.

Concerning the genetics question, we do know that occasionally people develop celiac disease apart from having the classic gene haplotypes. We also know that the classic gene haplotypes were developed for people of white European ancestry and that they are not the same for other races.

If your son has seen some improvement in his health from reducing gluten input that would seem to confirm a celiac disease diagnosis. Perhaps the next step would be to totally eliminate gluten from his diet. This would require the patient and the family to educate themselves as to where minor amounts of gluten are found in processed foods, meds and supplements and from cross contamination in the production, transportation, handling and processing by the food industry. It requires much diligence and can be socially awkward and limiting, especially at first. 

Trents, This is a very insightful response. Some folks on this forum indicate their TTG readings were very large (200 or 2000 etc). So I was hopeful ~19 is only a borderline value and could be characterized as non-celiac. But it appears once Celiac Disease sets in, it is an On/Off response. No significance of 20 or 200 or larger in terms of impact to duodenal mucosa or other health parameters? If weight gain is starting to happen at normal rate expected for that age group, what is the risk of not adhering to strictly gluten-free diet? 

11 hours ago, Scott Adams said:

I agree with @trents that if you are going to try the gluten-free diet in this case it should probably be all or nothing--100% gluten-free would be the only way to see if his symptoms improve. It's your call, and your doctor's call, of course, but to do another gluten challenge properly could add a long time onto his recovery time. Doing a thyroid test makes sense, and keep in mind that some thyroid issues are associated with untreated celiac disease, and articles on this topic are here:

https://www.celiac.com/celiac-disease/celiac-disease-amp-related-diseases-and-disorders/thyroid-pancreatic-disorders-and-celiac-disease/

Scott, Thank you for your reply. Very insightful articles posted in the link provided by you. Will setup a phone consultation with a GI specialist to follow up further.

trents Grand Master

Celiac disease is not an off and on phenomenon. I'm not sure where you got that information but it sounds like something that would come from an uninformed physician. One the genes are turned on by some stress trigger, they are on until the grave. The risk of not practicing a strict gluten-free diet is the development of a host of medical problems as the years go by. It's a long list of possible maladies including other autoimmune conditions such as thyroid disease,  allergies/intolerances to other foods not containing gluten, neurological problems, osteoporosis, migraines, GERD, tooth decay, stunted growth, liver damage, and on and on. Most of these health issues are tied to the malabsorption of nutrients since celiac disease damages the villi that line the small bowel - the place where most nutrient absorption occurs. Celiac disease has long fingers and the damage to body systems may not be apparent for years. After the onset of puberty up until the early 20's there may appear to be remission. But really, this is the prime of life when people are at their physical peak and are able to overcome many physical challenges to the body that will resurface later on.

I'll be honest here. It feels like to me you are in denial. Why would you want to play Russian roulette with your son's health? You have already seen the negative impact gluten has had on his growth. I know you don't want to hear this but you either need to be all in or your son will suffer. You need to be the parent and help him face this challenge. Adjusting to a gluten free lifestyle will change his life and all of your lives. But it can be done and it must be done if in fact he has celiac disease. Many people have gone through this and it is doable. 

knitty kitty Grand Master

I thought this NIH study might help you....

 

Evaluation of the Correlation Between tTG-IgA Titer and Duodenal Biopsy Findings in Children With Suspected Celiac Disease

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733291/#!po=77.2727

"Patients with failure to gain weight (mean 93 IU/mL) had lower serological titers, compared to other subjects (mean 147 IU/mL); this finding suggests that more interventions are required for the diagnosis of celiac disease in these individuals."

 

Your son should be checked for vitamin deficiencies, specifically thiamine deficiency.  Celiac Disease causes malabsorption which results in malnutrition, i.e. vitamin and mineral deficiencies, which result in poor growth and development.  

These are symptoms of thiamine deficiency.

Current Symptoms:

1. Gets full relatively quickly during lunch/dinner

2. Gets tired relatively soon

3. General weakness due to being low weight

4. Muscle fatigue 

Hope this helps!

charks Contributor

I think the OP meant that it doesn't matter how high or low TTG readings are. Even if your levels are borderline the reality is that you are a celiac and that's that. Is the OP  correct?    


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Scott Adams Grand Master

My understanding of the OP, which could be wrong, is that their son was borderline with their celiac blood test results, but he was also on a mostly gluten-free diet. Now they want to confirm this, and the only way to do that would be a gluten challenge--eating a slice of wheat bread daily for at least 6 weeks. 

If my summary here is correct, then to me the challenge is a waste of time. Had he been eating gluten daily when the test was taken the levels would certainly have been over the cut off for celiac disease. To me time is of the essence, and his recovery is more important than a gluten challenge and CD confirmation, but I'm not a doctor.

Please jump in and correct any of this.

trents Grand Master

Yes, Scott, but if the physician orders an endoscopy/biopsy then it would be better for the boy to go back on a normal gluten diet. Seems like the OP is unsure of two things. The first is if the boy actually has celiac disease and second, if the does, then is it acceptable to go with less than a totally gluten free diet. This may be one of those situations where the confirmation offered by an endoscopy/biopsy is necessary to a total commitment to gluten-free eating.

Scott Adams Grand Master

Understood, and if the doctor wants an endoscopy to confirm CD then he should be eating gluten daily, not once or twice a week. I guess my perspective on this is all or nothing--if you want to confirm this then do the gluten challenge properly--if you are too concerned about your son's current health and slow growth, then you may need to forgo an official diagnosis. 

The average time for celiacs to heal after going 100% gluten-free is two years, so it's important to keep this in mind.

newcon2021 Rookie
On 2/16/2021 at 2:47 PM, trents said:

Celiac disease is not an off and on phenomenon. I'm not sure where you got that information but it sounds like something that would come from an uninformed physician. One the genes are turned on by some stress trigger, they are on until the grave. The risk of not practicing a strict gluten-free diet is the development of a host of medical problems as the years go by. It's a long list of possible maladies including other autoimmune conditions such as thyroid disease,  allergies/intolerances to other foods not containing gluten, neurological problems, osteoporosis, migraines, GERD, tooth decay, stunted growth, liver damage, and on and on. Most of these health issues are tied to the malabsorption of nutrients since celiac disease damages the villi that line the small bowel - the place where most nutrient absorption occurs. Celiac disease has long fingers and the damage to body systems may not be apparent for years. After the onset of puberty up until the early 20's there may appear to be remission. But really, this is the prime of life when people are at their physical peak and are able to overcome many physical challenges to the body that will resurface later on.

I'll be honest here. It feels like to me you are in denial. Why would you want to play Russian roulette with your son's health? You have already seen the negative impact gluten has had on his growth. I know you don't want to hear this but you either need to be all in or your son will suffer. You need to be the parent and help him face this challenge. Adjusting to a gluten free lifestyle will change his life and all of your lives. But it can be done and it must be done if in fact he has celiac disease. Many people have gone through this and it is doable. 

Mr.Trents,

Thank you for your committed response to help my son in this journey. I do understand the significant collateral impact from ignored Celiac Disease and want to quickly arrive at an accurate diagnosis. I don't want to trigger any other autoimmune conditions in the future for the kid going into his teens.

That said, our doctor here did not provide a clear message if TTG=19 u/ml was above cutoff or not to classify as celiac disease. That particular doc has since left the country during the covid pandemic and we need to restart our diagnostic journey. Personally, I am suspecting celiac disease as likely also. The said test was done in Jul 2020 and at that time we had no clue about celiac disease/gluten-free and happily ate wheat to our hearts' content. So the readings are very realistic and don't need another gluten challenge. Since July, we have slowly reduced Gluten in the diet and seriousness is slowly setting in. I recently discovered this link about diagnostic testing and it made me feel serious about TTG>10.  https://www.mayocliniclabs.com/it-mmfiles/Celiac_Disease_Diagnostic_Testing_Algorithm.pdf

Since we are at a 6 month mark now since first diagnosis, we want to perhaps do one more accurate test and a specialist visit recommended by a few other friends who were recently confirmed as celiac in our community.

I guess I want some confirmation before proceeding to the next phase of strict gluten-free diet. But will make a commitment to arrive at a decision very soon to being strictly gluten free. Please continue your supportive advice.

newcon2021 Rookie
16 hours ago, Scott Adams said:

Understood, and if the doctor wants an endoscopy to confirm celiac disease then he should be eating gluten daily, not once or twice a week. I guess my perspective on this is all or nothing--if you want to confirm this then do the gluten challenge properly--if you are too concerned about your son's current health and slow growth, then you may need to forgo an official diagnosis. 

The average time for celiacs to heal after going 100% gluten-free is two years, so it's important to keep this in mind.

Hi Scott, As I highlighted in my response to Trents, our son was on normal diet (with gluten) during first test in Jul 2020 when he got a TTG of 19 u/ml. We have not done a follow up or biopsy due to covid situation. Now we want to pursue this further and get official/serious about this. We will try to setup a consultation with a specialist soon. I will provide the specialist all the same information I have provided here. We will see if she wants one more TTG test and a full biopsy. Then we will try to go 100% gluten-free.

newcon2021 Rookie
23 hours ago, knitty kitty said:

I thought this NIH study might help you....

 

Evaluation of the Correlation Between tTG-IgA Titer and Duodenal Biopsy Findings in Children With Suspected Celiac Disease

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733291/#!po=77.2727

"Patients with failure to gain weight (mean 93 IU/mL) had lower serological titers, compared to other subjects (mean 147 IU/mL); this finding suggests that more interventions are required for the diagnosis of celiac disease in these individuals."

 

Your son should be checked for vitamin deficiencies, specifically thiamine deficiency.  Celiac Disease causes malabsorption which results in malnutrition, i.e. vitamin and mineral deficiencies, which result in poor growth and development.  

These are symptoms of thiamine deficiency.

Current Symptoms:

1. Gets full relatively quickly during lunch/dinner

2. Gets tired relatively soon

3. General weakness due to being low weight

4. Muscle fatigue 

Hope this helps!

Hi Kitty, Very nice article indeed. Very helpful. In this article, they considered 120 subjects with TTG>18 IU/ml for biopsy studies. And the conclusion is that an underweight child who has borderline high TTG (say ~19) could have showed much higher TTG values if that child were not underweight. Also, it convinces me to not try to avoid biopsy for my son and get to the biopsy stage sooner than later.

Kitty - Do you know if TTG is high and biopsy shows no issues, what do doctors usually recommend? The article did not clarify what is the recommended regimen in that case?

Also, my son Vit B12 was normal. But looks like Vit B1 (Thiamin) was not tested. I will request that with the doctor in the upcoming visit. Thanks again!

trents Grand Master

But newcon2021, if you have been steadily cutting back on your son's consumption of gluten then just like the serum antibody testing you have already had done, the scoping with biopsy, it may have the same problem of being inconclusive because a certain amount of healing of the villi may have taken place. It is recommended that your son go back to consuming a least one slice of wheat bread for at least two weeks before the scoping in order to get a valid test. You seem to be stuck in this middle ground.

newcon2021 Rookie
On 2/18/2021 at 11:38 PM, trents said:

But newcon2021, if you have been steadily cutting back on your son's consumption of gluten then just like the serum antibody testing you have already had done, the scoping with biopsy, it may have the same problem of being inconclusive because a certain amount of healing of the villi may have taken place. It is recommended that your son go back to consuming a least one slice of wheat bread for at least two weeks before the scoping in order to get a valid test. You seem to be stuck in this middle ground.

Will do. We just got him tested for TTG this week again along with vitamins B1/B6/C/Zn/Cu/WBC/Lipids/glucose. Will know results of TTG in 2 weeks. Meanwhile, we will phone-consult with a pediatric GI specialist. If the results and doctor consultation both are inconclusive or positive, we will request a biopsy after 2-3 weeks and go into 1-2 slices of bread per day regimen before the biopsy.

Scott Adams Grand Master

Please let us know how things turn out...I hope you eventually figure everything out and that he recovers quickly!

  • 1 month later...
newcon2021 Rookie
On 2/25/2021 at 6:09 PM, newcon2021 said:

Will do. We just got him tested for TTG this week again along with vitamins B1/B6/C/Zn/Cu/WBC/Lipids/glucose. Will know results of TTG in 2 weeks. Meanwhile, we will phone-consult with a pediatric GI specialist. If the results and doctor consultation both are inconclusive or positive, we will request a biopsy after 2-3 weeks and go into 1-2 slices of bread per day regimen before the biopsy.

Update 3-26-2021:

The second TTG/EMA measured again shows similar numbers as 6 months ago. TTG=19.5; EMA=20.5. All vitamins/thiamine were normal. Another visit to a specialist had following results - Urine test showed positive for lactose intolerance; normal for IgA deficiency check; liver test normal. Biopsy done at 5 sites - no tissue damage was observed. We have another follow up visit with specialist next week to understand what this means and our next steps for diet and how to bring TTG/EMA down. Our doctor here thinks TTG<20 is normal range. EMA>20 is slightly elevated per protocol here.

Also note my other child shows TTG/EMA normal; lactose intolerance positive. We also tested mom/dad for TTG/EMA and were normal. So no family related risk for celiac for my son. Something else is causing my son's TTG/EMA to be high.

Any other feedback would be helpful. Thanks

trents Grand Master

A TTG of 19.5 strongly suggests celiac disease. The TTG test is the least sensitive blood antibody test for celiac disease but the most specific.

Scott Adams Grand Master

I agree with @trents, this is akin to a person's blood sugar being 1 point below the cut off line for diabetes, and the doctor saying that you've passed the test--there is nothing wrong here--no need to make any dietary changes!

In this case you're just below the cut off point, and people who don't have any autoimmune issues with gluten would never, ever score this high on this test. Clearly there is gluten sensitivity here at the very least, but unfortunately there is no commercially available test for this condition.

  • 7 months later...
newcon2021 Rookie

Hello All,

Update 10-27-2021:

After biopsy from March showing negative (Marsh0), we restarted strict gluten-free diet for last 7 months. We did another TTG/EMA/Glia Celiac Panel. His weight gain is marginal 2.5kg in the last 12-15months. So doctor thinks this is normal. Doctor is recommending increasing calorie count to ~2000 cal/day to help further weight gain.

A) Celiac Panel TTG=3.8; EMA=5.9. So it appears gluten-free diet helped bring down TTG/EMA under control. Plan is to continue this gluten-free diet regimen for now and test again in 6 months. The test was done in a different city but equivalent lab/report structure. We will repeat the Celiac panel in same city, same lab as first couple of times to make sure progress is repeatable.

B)' Additionally, we tested for anaemia. Ferritin continues to be very low but other anaemia markers are normal. We are continuing to discuss with doctor for next steps for Ferritin.

C) VitD is ~19 so continuing regimen for 800U/day. 

D) We were on lactose free diet for last 6 months. We are going to introduce some home made yogurt (low lactose) and more cheddar cheese (very low lactose) and add 1 calcium supplement 300mg/day

E) ESR test - normal

On 2/15/2021 at 9:45 PM, newcon2021 said:

02-15-2021 Status: My 11yr old son has been underweight and had not added any weight for last 1 year. He was on 40%ile weight curve for age 5-8. Then for age 9-11, he has dropped to 15%ile. The doctor recommended an anti-Celiac antibody test. The results are as follow GliaDea IgA=5.62, IgG=2.07 (<10 means negative); Anit-huTransG IgA=19.81, IgG=3.86 (Ref Interval is 0.00-20.00); EmA IgA=18.13, IgG=4.38 (Ref Interval is 0.00-20.00). Based on these results, doctor said he might have Celiac. So we requested a celiac genetic test. His report shows HLA-DQB1 06:02, 03:01 haplotypes which I was told is positive for DQ7 and negative for DQ2/DQ8. But I am not fully certain.  In the last 6months, upon reducing gluten (not gluten-free), he seems to have gained 1.5kg. We don't give him bread etc every day. Weekly 1-2 times he eats wheat based bread/bagel; 1 time per week or so wheat based cookies in friend's house etc. But otherwise, eats mostly gluten-free snacks, gluten-free cake, gluten-free breakfast.

On 3/26/2021 at 9:47 PM, newcon2021 said:

Update 3-26-2021:

The second TTG/EMA measured again shows similar numbers as 6 months ago. TTG=19.5; EMA=20.5. All vitamins/thiamine were normal. Another visit to a specialist had following results - Urine test showed positive for lactose intolerance; normal for IgA deficiency check; liver test normal. Biopsy done at 5 sites - no tissue damage was observed. We have another follow up visit with specialist next week to understand what this means and our next steps for diet and how to bring TTG/EMA down. Our doctor here thinks TTG<20 is normal range. EMA>20 is slightly elevated per protocol here.

 

trents Grand Master

Concerning dairy consumption via cheddar and yogurt to eliminate some of the lactose, a dairy intolerance can have nothing to do with lactose which is the sugar component in dairy. It can also be due to the protein component found in dairy called casein.

newcon2021 Rookie
9 minutes ago, trents said:

Concerning dairy consumption via cheddar and yogurt to eliminate some of the lactose, a dairy intolerance can have nothing to do with lactose which is the sugar component in dairy. It can also be due to the protein component found in dairy called casein.

Casein - good question. We asked around and the local labs/clinics don't seem to have any test for casein. We will keep looking for it.

Previous urine test was specifically for Lactose Intolerance and showed body was not processing lactose. So we were trying to avoid lactose and will continue to keep it low. As far as Celiac/Dairy cross interaction preventing GI recovery or TTG recovery, we think we can take a small step in increasing dairy (sans lactose) as TTG showing signs of recovery now.

We are still avoiding Oats for now to help prevent Celiac/Oats cross interaction emperically seen in some people.

newcon2021 Rookie

Any recommendations for improving Ferritin?

newcon2021 Rookie

Ferritin 12.99 (REF Interval is 21.8-274.6). So obviously it is very low. Not sure why. Perhaps can hypothesize mal-absorption due to Celiac GI tract.

Pyridoxal Phosphate (Vit B6) 113.2 (REF Interval 36-110). So obviously this is very high. Not sure why.

Vit B12 424 (REF Interval is 187-883). This is fine. We were taking supplements off and on for this.

trents Grand Master
(edited)

Has an iron supplement been considered? Ferritin is low but what about hemoglobin and hematocrit? 

What vitamin and mineral deficiencies has he been tested for?

Has he had an edoscopy with biopsy done yet to test for celiac disease. We get some people with damaged villi that show up in the biopsy but not in the antibody tests.

Edited by trents

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