Son recently got diagnosed with Celiac disease

[ShRa]

My son, 13 had been complaining about the tummy aches since past few days. He lost quite a bit of weight in past few months. We thought it's because he has been playing soccer alot recently and also is not much intereseted in junk these days. 

His doctor ordered Celiac panel with a few other bloodwork. Here are the results:

TTG Ab,IgA | Normal value: <15.0 u/mL | Value: 104.2

IgA is normal

Gliadin DGP Ab IgA is normal

His PCP told us that he need to stop eating gluten right away as he has been diagnosed with celiac disease and has been now referred to specialist for further advise.

I'm trying to understand gluten free diet and this disease further. 

Any guidance on how to proceed now and what to expect would be appreciated

[trents]

Welcome to the forum, @ShRa!

First of all, celiac disease is not a food allergy. It is an autoimmune disorder. That is, the ingestion of gluten triggers the body's immune system to attack it's own tissues, primarily the tissues that line the small intestine. This causes inflammation. This inflammation produces certain antibodies that can be detected by serum testing. Over time, the inflammation damages the lining of the small intestine and compromises the efficiency of nutrient absorption since the small intestine (aka, small bowel) is the part of the intestinal track where essentially all of the nutrition in the food we eat is absorbed.

Gluten is a protein found in three grains: wheat, barley and rye. In people with celiac disease, the immune system mistakes gluten as an invader.

Two factors have to be present to develop active celiac disease. The first is the genetic potential. Two genes (and their variants), HLA-DQ2 and HLA-DQ8, have been tied to celiac disease. About 40% of the population has 1 or both of these genes but only about 1% of the population develops active celiac disease. That means there is a second factor that must come into play to turn the genes on such that they become active in producing celiac disease. This second factor is not well understood but it is thought to involve some kind of stress event. For example, a viral infection or other acute illness or even prolonged psychological/emotional distress. Apparently, for most with the genetic potential for celiac disease, this never happens.

Your son has been diagnosed as a celiac via serum antibody testing. Normally, there is a second stage of testing involving an endoscopy with biopsy of the small bowel lining to microscopically check for damage. This second stage procedure is considered the gold standard of celiac disease diagnosis but is sometimes dispensed with if the serum antibody scores are quite high. Your son's tTG Ab-IGA score apparently qualifies for this in your PCP's opinion. The "normal" IGA (aka, "total IGA") score simply means he is not IGA deficient and is not a test for celiac disease per se. In the case of IGA deficiency, the tTG Ab-IGA score can present as a false negative. Since his total IGA is normal this is not an issue. The other celiac antibody test done was the Gliadin DGP Ab IgA and it was normal. Do not be concerned that one antibody test was high positive and the other was normal. This is typical. The tTG Ab-IGA is the most important one and the one test most ordered by doctors when checking for celiac disease.

One concern I have going forward is the instruction from your PCP to have your son stop eating gluten before he sees the specialist. If the specialist wants to do an endoscopy with biopsy and a good amount of time elapses before that procedure happens, going gluten free now might allow for enough healing of the small bowel lining to invalidate the biopsy results. Kids heal fast! I would consider holding off on going gluten free unless your son's health is clearly in immediate danger by not doing so.

I am linking two articles that might be helpful in. One is an overview of celiac serum antibody testing. The other is a primer for getting a handle on eating gluten free.

 

Edited November 20, 2024 by trents

[ShRa]

Thanks @trents We are still working on accepting that he has to be gluten free all his life. And this reality is also hitting him badly. 

As this was only the serum based results and biopsy hasn't been done yet, are there any slim chances that he might NOT have Celiac disease?

I've messaged his doctor to confirm one more time if he should go gluten free now or wait until he sees specialist.

Thanks.

[trents]

Yes, there are slim chances that his positive antibody ttg-ab IGA score is due to something besides celiac disease. But usually when that is the case, the antibody score is a weak positive. 

But consider the dilemma you will be in if your son goes gluten free now and there is a good amount of time that elapses before the biopsy (if the GI specialist wants to do that) and the biopsy is negative. You then will be presented with conflicting test results. Which will you believe?

From the article I linked in my first post, concerning the reliability of the ttg-ab IGA serum test for celiac disease: 

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.

[Scott Adams]

I also just want to mention that it's possible that your doctor might diagnose him with celiac disease without a biopsy, because his score was ~7x the level of diagnosis, so it is worth having a discussion with your doctor about this approach. 

In the Europe the new protocol for making a celiac disease diagnosis in children is if their tTg-IgA (tissue transglutaminase IgA) levels are 10 times or above the positive level for celiac disease.

According to the latest research, if the blood test results are at certain high levels that range between 5-10 times the reference range for a positive celiac disease diagnosis, it may not be necessary to confirm the results using an endoscopy/biopsy:

• Blood Test Alone Can Diagnose Celiac Disease in Most Children and Adults
• TGA-IgA at or Above Five Times Normal Limit in Kids Indicates Celiac Disease in Nearly All Cases
• No More Biopsies to Diagnose Celiac Disease in Children!

 

[trents]

From OP's first post, it sounds like the PCP has already made that diagnosis?

[Scott Adams]

I was not 100% sure about this due to this part of their comment "...and has been now referred to specialist for further advise." If the referral is to a gastroenterologist, then they may want to confirm via a biopsy. 

[ShRa]

I talked to PCP again this morning to confirm if he should discontinue gluten diet now or wait until he sees gastroenterologist. PCP advised to discontinue now as he had so many symptoms and to bring some relief to him. She mentioned that gastroenterologist might not do biopsy considering his results but if they would like to then he can have gluten included in his die6a few days prior to biopsy.

Thanks 

[trents]

Adding gluten back into his diet a few days before the biopsy will have little or no impact on ensuring a valid biopsy result if he has been off of gluten for months. ShRa, I recommend you do some research of the "gluten challenge" to get a more informed picture with regard to this issue. Many PCPs are not well-informed when it comes to celiac diagnosis and management. We tend to too readily defer to our physicians' recommendations sometimes when in fact they may not know as much as they ought about a certain area of health and medicine. I dare say that most of the celiac community participating in this forum have been misled or disappointed to one extent or another by physicians in the course of their celiac journey. Awareness about celiac disease in the medical community and in the general public has improved in the last 20-25 years but there is still a lot of misinformation out there.

What you can do is a gluten free trial diet before the biopsy (if there should be one scheduled) to see if symptoms improve and then go on a "gluten challenge" several weeks before the scheduled biopsy in which he consumes 4-6 slices of wheat bread daily (or the gluten equivalent) up to the day of the procedure.

Edited November 21, 2024 by trents

[Wheatwacked]

17 hours ago, ShRa said:

His PCP told us that he need to stop eating gluten right away as he has been diagnosed with celiac disease

Looks like the PCP called it.  Good for him.

Now you need to work on the malnutrition, primarily vitamins and minerals, caused by the years of malabsorption.  Virtually all newly diagnosed with Celiac Disease are vitamin D deficient, even though he may get lots of sun, get a 25(OH)D blood test.

My son is a professional ocean life guard year round in Florida and he has low vitamin D.

Common Nutrient Deficiencies in People with Newly Diagnosed/Untreated Celiac Disease