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Ask the Doc: Blood test and stool test say different things?

Q. I am concerned that my 2 1/2 year old daughter may have celiac. I am 37 and my 1st cousin on my father’s side has celiac disease, and my aunt (not her mother) on my father’s side had lupus (she has been dead over 30 years).

My daughter is about 33 inches tall and weighs 28 pounds. She is a very picky eater to begin with. She has about 3 to 5 bowel movements a day; these are all over the map in terms of consistency and size. She doesn’t stool at night and the colors of these BMs range from green to brown (never red, black, grey, or white). Sometimes I can see what she had eaten in them (i.e., grape skins) but she also doesn’t always chew her food in the first place!

We are going to see a pediatric gastroenterologist in our area. She has already had some labs done. I read another posting and will ask for the Prometheus Celia-Plus panel to be done. Here are the results from some blood work from Quest –

IgA Serum – = 51
Gliadin AB (IgA) = <3
TTG Ab IgA = <3

These are all in the normal range according to Quest.

We also did stool testing through Enterolab in Dallas.

A) Gluten Sensitivity Stool and Gene Panel Complete
Fecal Antigliadin IgA 222 (Normal Range <10 Units)

Fecal Antitissue Transglutaminase IgA 163 Units (Normal Range <10 Units)

Quantitative Microscopic Fecal Fat Score <300 Units (Normal Range <300 Units)

Fecal anti-casein (cow’s milk) IgA antibody 155 Units (Normal Range <10 Units)

HLA-DQB1 Molecular analysis, Allele 1 0201

HLA-DQB1 Molecular analysis, Allele 2 0301

Serologic equivalent: HLA-DQ 2,3 (Subtype 2,7)

These tests indicate that there is a definite problem – I guess gluten sensitivity and casein sensitivity. I don’t understand how 2 tests can be so different and the results came in within a week of each other; she has been on gluten and dairy the whole time and will continue to be until we meet with this pediatric gastroenterologist.

What is your thought on stool testing? I have not seen much positive response to it within the medical community online.

What should we specifically ask for when we meet? I guess a biopsy is needed to make a definitive diagnosis but I really, really don’t want to be so invasive with her. Any advice is much appreciated.

A. You should know that your daughter’s blood IgA levels are low, and that would make the IgA based antibody tests falsely normal. Secondly, commercial lab blood testing can be notoriously inaccurate, with sensitivity as low as 40% in some instances. The stool tests need to be validated in large scale trials with biopsy as the end point before they can be generally accepted. In your daughter’s instance, the tests strongly suggest celiac disease, but are confounded by the casein data: she needs an intestinal biopsy. My pediatric colleagues at California Pacific Medical Center are skilled and expert in this problem, and I’m sure that they can satisfy the situation. Please let me know how things are going, and I can arrange a consult with them for you.

Follow-up Q. You mentioned that the “casein intolerance confounds the issue.” I’m confused on that – does that mean that she MAY have only a casein problem? Do we need to eliminate one before the other? (casein before gluten, or whatever).

Follow-up A. Milk protein (casein) allergy can mimic the symptoms of celiac disease, but does not cause the same pathologic changes in the intestine as celiac. Therefore, an intestinal biopsy will resolve the issue.

Health and happiness,
Dr. Aron

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