teen Enough evidence without a scope?

[Slj]

My 14-year-old daughter has Type 1 diabetes and Hashimotos. She is tested for celiac every year due to these other autoimmune issues.

In the spring, her ttg was 4, a weak positive, after years of being normal. Her GI doctor retested it in late August, and at our request, also tested the endomysial antibody and the genes. 

This time, the ttg was a 3 (normal) but endomysial was positive (1:5 titer) and she had both genes and was considered high risk genetically.

We did more bloodwork a month later to follow up - ttg still a 3, endomysial positive with no mention of the titer, gliadin antibody normal, metabolic blood panel normal, and a bunch of vitamins normal such as calcium, zinc, b6, and ferritin. Vitamin D was a 33 - normal but I’d say it is low considering she was taking 2000 in supplements a day. 
 

We have an appointment with a celiac doctor at a children’s hospital in early December, and in the meantime, I have been reorganizing the kitchen and pantry, researching food brands and restaurants, getting gluten-free recipe books, and keeping her on a gluten diet while also having her try different gluten-free foods and making a list of what she likes and doesn’t like. 
 

Everything I’ve read indicates that if the endomysial is positive it is definitely celiac. With the gene test and her two autoimmune diseases, I am wondering if they will still want to do a scope to give the official diagnosis, and if we did one, what happens if it comes back negative?  Am I correct in interpreting these results as full blown celiac or potentially early stage celiac and a need to go gluten free and avoid cross contamination regardless of what a scope and biopsy would indicate? Deep down, I feel like she is celiac, but with all this waiting, I keep second guessing myself and wondering if I should be waiting till the doctor’s appt. to make all these preparations. Our current GI says a scope is the best way to diagnose but that it is unlikely to have false positives on the endomysial test.

She is asymptomatic though has had a chronic sluggish digestive system for years despite being on fiber supplements.  She also can have a very short fuse, and I know irritability can be a symptom. Sometimes she gets tingling in her feet or soreness in her calves at night though her pediatrician and endo think it is just growing pains.

I’d value any thoughts. My daughter is very anxious about doing a scope. I feel like we have to do it if it’s the only way to get the official diagnosis, but I’m hoping we have enough evidence. She doesn’t meet the European guidelines of ttg 10 times over the upper limit. 

[trents]

Unfortunately, you are sabotaging any testing (either antibody testing or endoscopy/biopsy) for celiac disease by already having her on a gluten free diet. Both kinds of tests are designed to measure the effects of inflammation in the small bowel caused by gluten ingestion for those with celiac disease. For the blood antibody testing the guidelines for a pretest gluten challenge is daily consumption of gluten equivalent to the amount found in two slices of wheat bread for 6-8 weeks and for the endoscopy/biopsy the same amount of gluten for at least two weeks. No wonder the the results you have been getting are equivocal.

[Slj]

If you read my post, she has not been on a gluten free diet.  I said I was keeping her on a gluten diet. She has been eating gluten daily, way more than a couple slices of bread. She has tried some foods here and there like gluten free pizza to find out what she likes.

[trents]

1 hour ago, Slj said:

and in the meantime, I have been reorganizing the kitchen and pantry, researching food brands and restaurants, getting gluten-free recipe books, and keeping her on a gluten diet while also having her try different gluten-free foods and making a list of what she likes and doesn’t like.  

My bad. That's what you get when reading something immediately after waking up in the morning. The underlined portions caught my eye and confess I did not read your post carefully enough to understand that your daughter is not yet eating gluten free.

Are you in Europe? In the USA she would probably be put on conscious sedation and never even remember the scoping. With the genes, Hashimotos, Type 1 diabetes and the sluggish digestive system, there is much corroborating evidence that she has celiac disease IMO. It might be good to run a full celiac panel as well: https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

Another option would be to assume she has celiac disease and start her on a gluten free diet. With that laundry list of things pointing to celiac disease I think I would go there despite the equivocal antibody test results. Then if her symptoms improve you have your answer.

[Slj]

I can see the confusion, especially since I was talking about gluten free recipe books.🙂 I’m just researching and planning for the long haul as I don’t see gluten being good for her, as much as I wish the results weren’t pointing in that direction.

All the waiting has it’s pros and cons - it’s nice to have time to learn and get organized so it will be less overwhelming later, but it also leaves a lot of time to speculate. 

We are in the US which I believe would be general anesthesia for her age, at least according to the original GI doctor we saw. I believe he has done a full celiac panel but I will make sure when we see the new doctor. I’m guessing this doctor will want to run her own panel with their lab.
 

Thanks for your insights!

[trents]

I commend you for getting prepared ahead of time. We don't often see that on the forum. That will pay dividends when and if celiac disease is confirmed for your daughter. 

Another thing you need to consider is that one recent study done by the Mayo Clinic with 300 or so people showed that 44% of first degree relatives of those with celiac disease had celiac disease themselves. Now to be fair, other studies that have been done showed more like a 10% incidence. But with your daughter having both genes, you might want to have yourself, her father and any siblings tested. Realize also that many people with celiac disease are "silent celiacs." That means they are largely asymptomatic, at least until much damage has been done to their bodies down the road.

[Scott Adams]

This interesting study indicates that doctors need to take more seriously persistently elevated antibodies, even if they are in the negative range, but elevated. Since her antibodies are on the lower side consistently the doctors may want to do a biopsy to confirm a diagnosis. Given that she did have one weak positive test, carries two genetic markers for celiac disease, and has Type 1 diabetes and Hashimotos, it may make sense for her to go gluten-free now, but be sure to discuss this option with her doctor.

 

[RMJ]

A 1:5 titer on the endomysial test is a very weak positive.  Many labs don’t consider it a positive unless the titer (dilution) is 1:10 or greater.  (Mine was 1:160).

So she’s had some borderline positive results, with no clearcut symptoms, and no detected nutritional deficiencies.  I personally wouldn’t want to assume she has celiac at this point and commit her to a lifetime of dealing with a gluten free diet which can be quite difficult socially for a teenager.  A gastroenterologist might not want to do a scope with such borderline results. 

You may have to continue with normal diet and annual testing, but it will be interesting to see what the pediatric celiac specialist says.  

[trents]

If the antibody tests are equivocal then there is a good chance the biopsy will be as well. I say that because the antibody tests measure inflammation and if the numbers are low you would think there is not much inflammation and damage going on in the small bowel lining. This could be true especially in the early stages of celiac disease.

However, we do know there are instances when people have negative antibody tests but clearly positive biopsies. 

[knitty kitty]

9 hours ago, Slj said:

My 14-year-old daughter has Type 1 diabetes and Hashimotos.

She is asymptomatic though has had a chronic sluggish digestive system for years despite being on fiber supplements.  She also can have a very short fuse, and I know irritability can be a symptom. Sometimes she gets tingling in her feet or soreness in her calves at night though her pediatrician and endo think it is just growing pains.

Welcome to the forum!

Your daughter has symptoms of thiamine deficiency.  The sluggish digestive system, tingling in feet (peripheral neuropathy), tender calves and emotional lability are often overlooked symptoms of thiamine deficiency.

People who have Hashimoto's thyroiditis and people who have diabetes require more thiamine.  Even more so if she is eating a high carbohydrate diet (with or without gluten).  

I know from experience.  I recognize the symptoms.  I have Type Two Diabetes, but thiamine deficiency is found in Type One as well.  I have thyroid problems also. 

Doctors don't recognize thiamine deficiency outside of alcoholism.  I doubt they recognize it in a child as they've already written it off as growing pains.   

Ask the doctor for a erythrocyte transketolase test which is more accurate than a blood test for thiamine deficiency.  

Supplementing with doses of thiamine higher than that found in a B Complex vitamin are needed.  

I took high dose Thiamine to correct my deficiency and started feeling better within a few minutes.  Intravenous or oral thiamine can be given.   

I would not be surprised if thiamine deficiency has affected her antibody production.  

I'm not a doctor.  I'm a microbiologist.  High dose Thiamine worked for me in resolving the same symptoms.

Here's some articles I hope are helpful....

"The Missing Link to Thyroid Fatigue"

https://thyroidpharmacist.com/articles/thiamine-and-thyroid-fatigue/

And...

"Thiamine and Hashimoto's thyroiditis: a report of three cases"

https://pubmed.ncbi.nlm.nih.gov/24351023/

And...

https://ods.od.nih.gov/factsheets/Thiamin-HealthProfessional/

And...

https://www.sciencedirect.com/science/article/pii/S2589004220306167

 

P.S. I'm for getting the biopsy.  Antibody levels don't reflect damage level in the small intestine.  

 

Edited October 20, 2021 by knitty kitty
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