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Question about genetic vs blood results


calliope

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calliope Newbie

Hey all,

After years of dealing with IBS, panic attacks, and acid reflux, a doctor finally thought to test me for Celiac Disease. I got my test results back today, but my next appointment isn't for another two weeks. I'm hoping someone here might be able to help me interpret the results!

For the HLA typing, my results were:
 

Quote

 

HLA DQ2 - Positive

HLA DQ8 - Negative

HLA DQA1* - 05

HLA DQB1* - 0201

HLA DQB1 - 0301

HLA variants detected: HLA DQA1* - 03

Interpretation: The patient has one of the HLA-DQ variants associated with celiac disease.

 

The blood results were:

Quote

Immunoglobulin A  - 260 (Range: 81-463)

Tissue Transglutaminase AB, IGA - 1 (Range: <4)

Interpretation: No serological evidence of disease.

I usually eat a *lot* of gluten, so theoretically if I had Celiac, antibodies should have shown up in the blood work. I know that the blood test is very accurate and that the gene test only shows a predisposition, but is it possible for me to be positive with these results?

I'm going to start a gluten-free diet regardless, because if it helps me feel less terrible all the time I'm all for it regardless of the cause, but I'm curious to get more insight into what the tests mean.

Thank you!


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Calliope,

Welcome! 

Since your doctor suspects you have celiac disease, the next step is an endoscope. Please do not stop eating gluten until all testing is complete, or the results will most likely be inaccurate. 

cyclinglady Grand Master
25 minutes ago, calliope said:

Hey all,

After years of dealing with IBS, panic attacks, and acid reflux, a doctor finally thought to test me for Celiac Disease. I got my test results back today, but my next appointment isn't for another two weeks. I'm hoping someone here might be able to help me interpret the results!

For the HLA typing, my results were:
 

The blood results were:

I usually eat a *lot* of gluten, so theoretically if I had Celiac, antibodies should have shown up in the blood work. I know that the blood test is very accurate and that the gene test only shows a predisposition, but is it possible for me to be positive with these results?

I'm going to start a gluten-free diet regardless, because if it helps me feel less terrible all the time I'm all for it regardless of the cause, but I'm curious to get more insight into what the tests mean.

Thank you!

Well the results seem to be negative.  Your doctor spent money to see if you have the genes, but that test is used to rule out celiac disease.  It did not rule it out!  Some 40% of the population has the genes but only a tiny fraction go on to develop it.  But do you have it?  Your doctor should have spent the extra money on a full celiac antibodies panel.  You would have had a better chance of catching a positive.  The TTg is pretty accurate.  For the past decade, experts have recommended this test for screening because it catches most but not all.  Even theUniversity of Chicago recommended just the TTG test.  Now they have changed their minds.  Here is the list is tests they now recommend:

Open Original Shared Link

I have celiac disease (blood and biopsy confirmed) and my TTG results are always negative even in follow-up testing.  If my celiac-savvy GI did not run the entire panel, my diagnosis would have been missed.

You can go gluten-free, but it is HARD!  You would need to stay the course for at least six months.  It can be done.  But I would ask for the full panel before I would embark on the diet.  

Take care!  

calliope Newbie

Thanks! It clarifies things somewhat that the genetic test is used to rule out Celiac, rather than confirm it. And it's good to know there are more tests available.

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