Positive Bloods But Negative Gene Test?

[Meg123]

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

[starrytrekchic]

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.

[ravenwoodglass]

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.

[Mari]

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.

[Meg123]

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.

[Takala]

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?"

Open Original Shared Link

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:

[Meg123]

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

[starrytrekchic]

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?

[Meg123]

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.

[nora-n]

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.

[Jestgar]

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.

[Meg123]

......

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?

[nora-n]

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.

[tarnalberry]

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.

[DeanoGHPC]

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?

[MitziG]

Deano. If you have been dx as celiac, the answer is no. No gluten. Ever. For the rest of your life. Even if you have no visible reaction to it, your immune system knows it is there and it will begin attacking your body. If you eat even a tiny bit of gluten, your immune system will kick into overdrive for at least the next 3 months. You will set yourself up for many more problems, including other autoimmune disorders and cancer, if you cheat.

You have been handed the cure- a 100% gluten free diet. Anything less than 100% and you WILL have ative celiac disease and you WILL end up much worse off than you were. Damage may be permanent.

I'm sorry if this sounds harsh. But when people do not take my dietary needs seriously because they "have a friend/uncle/cousin" with celiac disease who can eat "a little bit of gluten and is just fine" it makes my life very difficult.

You have celiac disease. If you are going to cheat, even a little, you might as well just be eating gluten all the time. There are more important things then really good pizza. Find them.

[MitziG]

Oh, and Meg123- you have celiac disease. Your doctors are clueless. Whatever the biopsy shows, do not let them convince you otherwise!

[Nay44]

Can anyone help with genetic test results:

DQ Alpha 1: 05:01,05

DQ Beta 1: 02:01,03

What does this mean?

Had positive blood tests of Ttg. Have fatigue, slightly low on iron but iron supplements bring it up, bloating after eating. No real other sypmtoms. Not deficent in B-12 or Vitman D on blood work. Had scope and saw scalloping of the 2nd and 3rd duodenum. Biposy results have not come back yet. Had all three kids tested and all were negative.. they are 7,12,and 14.

[frieze]

Can anyone help with genetic test results:

DQ Alpha 1: 05:01,05

DQ Beta 1: 02:01,03

What does this mean?

Had positive blood tests of Ttg. Have fatigue, slightly low on iron but iron supplements bring it up, bloating after eating. No real other sypmtoms. Not deficent in B-12 or Vitman D on blood work. Had scope and saw scalloping of the 2nd and 3rd duodenum. Biposy results have not come back yet. Had all three kids tested and all were negative.. they are 7,12,and 14.

posting your lab results would be good....sometimes docs say "normal", when they are not.

[tom]

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?

For a few years in the 90s, I didn't know better & was thinking what I could "get away with". There's a lot more at stake than just the villi. Celiac can affect every system in the body.

I think my health is affected to this day by that practice way back when. Symptoms can creep up so slowly they can be attributed to such non-alarming things as aging, instead of the occasional mostly non-symptomatic gluten.

Any celiac not 100% gluten-free is taking a risk bigger than they know, imho.

[DeanoGHPC]

For a few years in the 90s, I didn't know better & was thinking what I could "get away with". There's a lot more at stake than just the villi. Celiac can affect every system in the body.

I think my health is affected to this day by that practice way back when. Symptoms can creep up so slowly they can be attributed to such non-alarming things as aging, instead of the occasional mostly non-symptomatic gluten.

Any celiac not 100% gluten-free is taking a risk bigger than they know, imho.

I've seen my own GP. Now we having the other Antigen test. What other one. I thought I'd just had it. Get back to you when I know more.