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Positive Bloods But Negative Gene Test?


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20 replies to this topic

#1 Meg123

 
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Posted 04 May 2011 - 06:47 AM

The title basically says it, but I'll expand a bit.

About two years ago I had the first blood test to screen for celiac disease which came back as a 'borderline' positive. Since I was on a long waiting list for the biopsy, and I was quite anxious for a result, I requested the gene test. This came back as negative, so the Dr said no I def didn't have it, so we cancelled the biopsy and forgot about it.

Since then I have cut back significantly on gluten, but not completely eliminated it from my diet altogether as I felt a lot better.

Fast forward till now and I'm now seeing another Dr about my still ongoing fatigue and also wanting to know why I'm always still so low in iron, even though I'm always taking good quality iron tablets (which are taken with vit c for absorbtion).

She decided to test for celiac disease (I didn't mention my previous testing). This time it came back a more clear higher positive, I don't think is was through the roof high, but it was a clear high ie not borderline at all.

She asked me if I was eating gluten normally, but because I've cut right down, I am now doing the gluten challenge and she is going to re test me in four weeks (I've been on it for two weeks).

Anyway, I guess I'm wondering about three things:

1. I'm aware that over time something has increased?? (ie the blood result has increased) wondering if that is indicative of celiac disease?

2. Is it probable that if the bloods were positive that I don't have it?

3. If the gene test was negative is it really possible?

Thanks for your help
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#2 starrytrekchic

 
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Posted 04 May 2011 - 07:37 AM

The chances of a false positive on a blood test are almost zero. Celiac disease does happen outside the main two genes (DQ2 & 8) but it's uncommon. The best thing to do would be to go forward with the testing (biopsy and gluten free diet). Do you know what all of your test results were? It would be interesting if you copied them over.
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#3 ravenwoodglass

 
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Posted 04 May 2011 - 07:56 AM

False positives on blood tests are practically unheard of. False negatives on biopsy and blood tests are fairly common though. If you have been gluten light that wouldn't stop the antibodies which is why your test was more strongly positive the second time around. No matter what the biopsy results are it would be a good idea to go strictly gluten free after the tests are done.
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Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

#4 Mari

 
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Posted 08 May 2011 - 06:43 PM

I'd be interested in seeing your DNA marker results. There are some unusual combinations of the DQ gene that result in receptor sites which will bind small fragments of gliadin and intiate auto antibody production. It's possible that the molecular serology test offered by Prometheus Labs may give more information about the receptor site than the genetic tests. I have found the Wikipedia articles about HLA-DQ and each of the DQ classes and subgroups to be informative.
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HLA-DQ B allele 1 *0602: HLA-DQ B allele 2 *0302
Gluten free and Cow Dairy free since 2006

#5 Meg123

 
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Posted 08 May 2011 - 07:01 PM

I'd be interested in seeing your DNA marker results. There are some unusual combinations of the DQ gene that result in receptor sites which will bind small fragments of gliadin and intiate auto antibody production. It's possible that the molecular serology test offered by Prometheus Labs may give more information about the receptor site than the genetic tests. I have found the Wikipedia articles about HLA-DQ and each of the DQ classes and subgroups to be informative.


Thanks Mari, I will try and get a copy of that test too, I might be able to pick up a copy today or tomorrow.

Only this morning I pick up a copy of my bloods taken two weeks ago, since being on less gluten. Comparing the results to the original ones taken two years ago, I'm a bit confused. Since the tests were done in two different labs, they results are presented differently.

I'll put them below.

Blood collected two years ago:

Total IgA : 2.2 g/L (0.7-4.0)
Anti-tissue Transglutaminase IgA (anti-tTg IgA): 3.6U/ml (Negative < 2.0) (equivocal 2.0-3.9) (positive > 3.9)

Notes: Borderline levels of tTg IgA detected. Significance at this level is uncertain. Consider HLA DQ typing.


Blood collected two weeks ago:

Endomysial antibody : Negative
Tissue Transglutaminase IgA: 25 units (<20)

Total Serum IgA : 2.20 g/L (0.69 - 3.10)

Notes: Borderline IgA-tissue transglutaminase. coeliac disease in not excluded. Suggested repeat in 4-6 weeks on a gluten containing diet or referral for endoscopy and small bowel biopsy.


I don't know if this makes sense to any of you? Will try and get the gene results now.

Thanks for everyones advice.
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#6 Takala

 
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Posted 08 May 2011 - 07:16 PM

The gene tests for celiac and the gene tests for what they (medical researchers) are calling "gluten intolerance," are becoming more specialized all the time, as gluten intolerance gradually becomes recognized as a category to describe people who are sick from eating gluten, but do not seem to have the the "standard" genes for it.

This was from last year: "What do we know?"

http://www.celiaccen...34/vobid--2264/

excerpt:

Dr Alessio Fasano medical director of the University of Maryland Center for Celiac Research also felt similarly. Yet in 2009 he was quoted as saying in Scientific American: “Celiac disease and gluten sensitivity are subsets of gluten intolerance. Anyone who has celiac disease or gluten sensitivity is, by definition, gluten intolerant.” I encourage you to read this very elegant article in the August edition.

Genetically we face a mixed bag with these conditions. While almost 100% of people with celiac possess either the DQ2 or DQ8 genes, up to 40% of the general population also possess one of these markers. Dr Fasano reported that half of the gluten sensitive people have the genes and half don’t, making it possible to be gluten sensitive without having either one of the genes. He also stated as regards genetic testing for DQ2 or DQ8 that: “A positive result doesn’t imply much. It has little predictive value on the lifetime risk of developing celiac disease.”

Add to that fact that in the April 2009 Celiac Disease Symposium held in Amsterdam evidence was presented that nine other genes associated with celiac disease have been discovered.


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#7 Meg123

 
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Posted 08 May 2011 - 07:27 PM

OK, here is what the gene test report says, I don't know if it's in enough detail for people with a deep understanding of the genetic side of things.

HLA Typing for Coeliac Disease

Interpretation: Alleles associated with coeliac disease are ABSENT

Conclusion: The absence of DQ2 (DQB1*02) and DQ8 (DQB1*0302) and DQA1*05 makes the diagnosis of coeliac deisease unlikely.

Thanks again
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#8 starrytrekchic

 
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Posted 08 May 2011 - 08:18 PM

Your most recent blood results are certainly positive. You should do the endoscopy & then try the diet regardless.

Your genetic tests just say you're not DQ 2 or DQ 8...they don't actually say what you are...were there no other lines? Like a series of what looked like code?
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#9 Meg123

 
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Posted 08 May 2011 - 08:27 PM

Your most recent blood results are certainly positive. You should do the endoscopy & then try the diet regardless.

Your genetic tests just say you're not DQ 2 or DQ 8...they don't actually say what you are...were there no other lines? Like a series of what looked like code?


No, that's all it said on the print out I've got, I typed it all out except the Drs name, dates lab etc...no codes at all. Frustrating.
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#10 nora_n

 
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Posted 09 May 2011 - 01:49 AM

we have had several people here with half a celiac gene, and they only started testing for the alpha chains recently because there are some percent with half genes, like 6% I think I remember. Another 2% do not have any of the DQ2 or 8 alleles .

also, we have had some few here who were mistyped, one had a diagnosis and wanterd to check which genes she had because her son had DQ8 and DQ2, and her tests were negative for celiac!!! That is impossible. She phoned the lab and they sent te sample on to another lab and they found the DQ8.

Also, Enterolab found her DQ8 gene no problem.

When was your gene test done? Maybe it was done before they started testing the alpha chains.

Also, we have had at least two officially diagnosed celiacs here with DQ6.

I have DQ5.
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gluten-free since may 06 after neg. biopsy symptoms went away and DH symptoms which I had since 03 got gradually better.
daughter officially diagnosed celiac and casein intolerant.
non-DQ2 or DQ8. Maybe DQ1? Updated: Yes, double DQ5
Hypothyroid since 2000, thyroxine first started to work well 06 on a low-carb and gluten-free diet
Lost 20 kg after going gluten-free and weighing 53 kg now. neg. biopsy for DH. Found out afterwards from this forum that it should have been taken during an outbreak but it was taken two weeks after. vitaminD was 57 nmol/l in may08)

#11 Jestgar

 
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Posted 09 May 2011 - 03:05 AM

3. If the gene test was negative is it really possible?

There are no identified "Celiac genes", there are only genes associated with the disease. This means you can test positive for these genes, but not have the disease, or you can have the disease, but not test positive for the genes. They are indicators, they are not diagnostic.
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#12 Meg123

 
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Posted 09 May 2011 - 03:11 AM

......

When was your gene test done? Maybe it was done before they started testing the alpha chains.


it was done in September 2009. Is that before they started testing differently?
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#13 nora_n

 
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Posted 09 May 2011 - 06:04 AM

I think it was just around that time some started to test the alpha chains as well, so they might not have tested for them.

Another comment:

Some here actually phoned the lab, and they did have the full report but only reported the short answer to the doctor.

So maybe they can tell you if they just used the rapid test kit that only tests for the presence of DQ2 and DQ8 in the beta chains, or advanced to testing what genes there were.

I phoned my lab and they could not even tell me, so I ordered a test through enterolab privately. (their tests are done at the American Red Cross, and they only test for the beta chains)
I think my tests were done with this rapid test, a test kit that only looks for DQ2 or 8.


By the way, it is a bit harder to test for DQ8, DQ2 is easier detected.
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gluten-free since may 06 after neg. biopsy symptoms went away and DH symptoms which I had since 03 got gradually better.
daughter officially diagnosed celiac and casein intolerant.
non-DQ2 or DQ8. Maybe DQ1? Updated: Yes, double DQ5
Hypothyroid since 2000, thyroxine first started to work well 06 on a low-carb and gluten-free diet
Lost 20 kg after going gluten-free and weighing 53 kg now. neg. biopsy for DH. Found out afterwards from this forum that it should have been taken during an outbreak but it was taken two weeks after. vitaminD was 57 nmol/l in may08)

#14 tarnalberry

 
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Posted 09 May 2011 - 02:16 PM

This is why I think genetic testing for celiac disease is a waste of time, for the most part. It can't tell you that you have it, and it can't tell you that you don't. Given the current testing, it can't even tell you if you might get it in the future, because no one tests for all the known genes associated with celiac disease and we don't even know all of the genetic elements which are associated with it (or how the association works).

You feel better with less gluten, your antibody tests show that you are producing autoantibodies to gluten: you have celiac disease.
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Inconclusive Blood Tests, Positive Dietary Results, No Endoscopy
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#15 DeanoGHPC

 
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Posted 07 May 2012 - 03:00 AM

This is why I think genetic testing for celiac disease is a waste of time, for the most part. It can't tell you that you have it, and it can't tell you that you don't. Given the current testing, it can't even tell you if you might get it in the future, because no one tests for all the known genes associated with celiac disease and we don't even know all of the genetic elements which are associated with it (or how the association works).

You feel better with less gluten, your antibody tests show that you are producing autoantibodies to gluten: you have celiac disease.



Can I ask a question? I'm new to cealiac and am now gluten free. I feel very much better for it too. I was not one of the really bad cases like vomiting after a biscuit but I became malnourished. Do you think I could have like a Nan Bread or a Pizza once a month and get away with it or would that damage the villi?
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