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9 Year Old test results - help interpret


Gill.brittany8

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Gill.brittany8 Newbie

Hi everyone 

After years of stomach issues being ignored by doctors, my 9 y/o daughter finally had an upper endoscopy which showed a ton of stomach inflammation. The GI doctor ordered some bloodwork and I’m attaching the results here. Part will be from the CBC and the other is celiac specific. I’m not sure what’s relevant so I’m just including extra information just in case.
 

The results are confusing because they say “No serological evidence of celiac disease. tTG IgA may normalize in individuals with celiac disease who maintain a gluten-free diet. Consider HLA DQ2 and DQ8 testing to rule out celiac disease.”

But just a few lines down, it says DQ2 positive. Can someone help make sense of this? Thanks so much. 

result images here:

https://ibb.co/WFkF0fm
https://ibb.co/kHvX7pC
https://ibb.co/crhYp2h
https://ibb.co/fGYFygQ

 


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trents Grand Master
(edited)

Welcome to the forum, @Gill.brittany8!

There are two main genes that have been identified as creating potential for developing celiac disease, HLDQ2 and HLDQ8. Your daughter has one of them. So, she possesses genetic the potential to develop celiac disease. About 40% of the general population carries one or both of these genes but only about 1% of the general population develops celiac disease. It takes both the genetic potential and some kind of triggering stress factor (e.g., a viral infection or another prolonged health problem or an environmental factor) to "turn on" the gene or genes.

Unfortunately, your daughter's doctor ordered a very minimal celiac antibody panel, the tTG-IGA and total IGA. Total IGA is not even a test per celiac disease per se but is a check for IGA deficiency. If the person being checked for celiac disease is IGA deficient, then the scores for individual IGA tests (such as the tTG-IGA) will be abnormally low and false negatives can often be the result. However, your daughter's total IGA score shows she is not IGA deficient. You should consider asking our physician for a more complete celiac panel including DGP-IGA, TTG_IGG and DGP-IGG. If she had been avoiding gluten that can also create false negative test results as valid antibody testing requires having been consuming generous amounts of gluten for weeks leading up to the blood draw.

Do you know if the GI doc who did the upper GI took biopsies of the duodenum and the duodenum bulb to check for the damage to the small bowel lining caused by celiac disease?

Having said all that, her standard blood work shows evidence of possible celiac disease because of an elevated liver enzyme (Alkaline Phosphatase) and low values for hemoglobin.

Edited by trents
dublin555 Newbie
13 hours ago, Gill.brittany8 said:

Hi everyone 

After years of stomach issues being ignored by doctors, my 9 y/o daughter finally had an upper endoscopy which showed a ton of stomach inflammation. The GI doctor ordered some bloodwork and I’m attaching the results here. Part will be from the CBC and the other is celiac specific. I’m not sure what’s relevant so I’m just including extra information just in case.
 

The results are confusing because they say “No serological evidence of celiac disease. tTG IgA may normalize in individuals with celiac disease who maintain a gluten-free diet. Consider HLA DQ2 and DQ8 testing to rule out celiac disease.”

But just a few lines down, it says DQ2 positive. Can someone help make sense of this? Thanks so much. 

result images here:

https://ibb.co/WFkF0fm
https://ibb.co/kHvX7pC
https://ibb.co/crhYp2h
https://ibb.co/fGYFygQ

 

The positive DQ2 result is important since it suggests a genetic predisposition to celiac, but the bloodwork not showing clear signs is confusing. The inflammation in her stomach could still be related, and it’s worth pushing for more tests, like a biopsy or a deeper look at other possible causes. It’s a tough spot, but you’re on the right track trying to get clarity.

knitty kitty Grand Master

Welcome to the forum, @Gill.brittany8,

Yes, the bloodwork is confusing.  

One has to be eating a sufficient amount of gluten (10 grams/day, about 5-6 slices of bread) in order for the antibody level to get high enough to be measured in the bloodstream.  If insufficient amounts of gluten are eaten, the the antibodies stay in the small intestines, hence the statement "tTG IgA may normalize in individuals with celiac disease who maintain a gluten-free diet." 

The bloodwork reflects anemia.  People with anemia can have false negatives on tTg IgA tests because anemia interferes with antibody production.  Diabetes and Thiamine deficiency are other conditions that may result in false negatives.  Anemias, B12 deficiency, iron deficiency, Thiamine deficiency and gastritis are common in undiagnosed Celiac disease.    The DGP IgG antibody test should be given because your daughter is so young.  Many young people test positive on DGP IgG because their immune systems are not mature and don't produce IgA antibodies yet. 

Your daughter has several alleles (genes for Celiac disease).  

Your daughter needs to be checked for nutritional deficiencies.  Iron (ferritin) B12, Vitamin D, Thiamine and Vitamin A should be checked.  

Were any biopsies taken during the endoscopy?

Keep us posted on your progress.  

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