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jbuckeye

Thoroughly Confused

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I'm hoping someone can help me. Two years ago, with a tTg of 76, an endoscopy (which the gastroenterologist said looked like a "classic textbook case of celiac disease"), and a positive biopsy, I was diagnosed with celiac disease. I went on a gluten free diet; symptoms disappeared; life was good. Fast forward to today. My mom wanted to know if she had celiac disease, so she submitted a cheek sample to Kimball Labs. The results came back DQ2 positive. So she asks me if I will take the test because she wants to know if I'm DQ2 or DQ8. I send off my cheek sample, and it came back today negative for DQ2 and 8 with big writing that says, "It is highly unlikely that this patient has celiac disease."

So--could the gastroenterologist have been wrong? Is there some other condition that would explain a high tTg and positive biopsy? Help. Very confused.

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I'm hoping someone can help me. Two years ago, with a tTg of 76, an endoscopy (which the gastroenterologist said looked like a "classic textbook case of celiac disease"), and a positive biopsy, I was diagnosed with celiac disease. I went on a gluten free diet; symptoms disappeared; life was good. Fast forward to today. My mom wanted to know if she had celiac disease, so she submitted a cheek sample to Kimball Labs. The results came back DQ2 positive. So she asks me if I will take the test because she wants to know if I'm DQ2 or DQ8. I send off my cheek sample, and it came back today negative for DQ2 and 8 with big writing that says, "It is highly unlikely that this patient has celiac disease."

So--could the gastroenterologist have been wrong? Is there some other condition that would explain a high tTg and positive biopsy? Help. Very confused.

A positive biopsy is a little hard to deny. But...I don't know too much about the gene testing and will leave that to others.


Lisa

Gluten Free - August 15, 2004

"Not all who wander are lost" - JRR Tolkien

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I just read an article the other day that many males who have celiac do not have a positive DQ 2 and 8. I don't know if you are male or not but I will try to find a link to the article if you are interested.

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the two common genes do not cover all cases of celiac. not having dq2 or dq8 may make it less likely that you would have celiac, but doesn't in any way whatsoever make it impossible.


Tiffany aka "Have I Mentioned Chocolate Lately?"

Inconclusive Blood Tests, Positive Dietary Results, No Endoscopy

G.F. - September 2003; C.F. - July 2004

Hiker, Yoga Teacher, Engineer, Painter, Be-er of Me

Bellevue, WA

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I am negative for DQ2 and DQ8, and female. I have 1/2 of the DQ2 gene, and have Celiacs, "Mine was highly unlikely, but still possible (like less than 1% chance, but still a chance - I seem to always fall into that category :))." Science still knows very little about all the factors that result in Celiacs. One member here told me that countries other than the United States include more genes in the diagnosis - I don't know what those are (anyone?).

Anyway, I have my life back since my diagnosis. If being Gluten Free did not solve a life time of pain for me, than I would be searching for a different diagnosis. I am happy where I am at!

Good Luck,

Kelly

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What Tarnalberry said - all the genes for celiac aren't well researched yet, the two most common ones don't cover 100% of the celiacs. You probably just have a version of genes that the lab doesn't test for. I wouldn't argue with a positive biopsy and TTG and positive diet response though, you pretty much can't have more positive proof than that.

Pauliina

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Mistyping does happen, especially if they use serotyping.

The wikipedia article explains more about that.

http://en.wikipedia.org/wiki/HLA-DQ

and they found thar some have half the gene and that is mised if they do not do an elecrtopheresis and test both alpha and beta chains.

http://www.ncbi.nlm.nih.gov/pubmed/12651074 here they found some mistyped celiacs and some half genes and some DQ1 subtype 5 (why onearth do they just write DQA1*01-DQB*05 and not tell us that this is DQ1 subtype 5? is it so they do not have to give Dr. Hadjivassiliou right in that he found 20% of the gluten ataxia subjects in his research being DQ1??

And they found DQ7 and DQ9 celiacs:

http://www.clinchem.org/cgi/content/full/44/8/1755 DQ7

http://intimm.oxfordjournals.org/cgi/content/full/12/8/1157 DQ9

And, they have found that the DQ genes only predispose only with a half. Now they found another location that predisposes for celiac. Your mom probably has this, and you too.

nora


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)

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Did they tell you what genes you do have?


gluten . . . Kiss my grits!

pork and beef free- 1994

wheat free or wheat light- 2003

gluten free- January 2008

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Enterolab will tell you all the beta chains but not the alpha chains. Kimball I think will only tst for DQ2 or 8 but will check for alpha chains I think. Those not positive for DQ2 or 8 need the enterolab test to find out if they areDQ5,6, 7 or 9 or 4, I think.

I have not seen anyone posting with results form Kimball that they have half a DQ2 gene, though. But they do test for it, it sounds like.

http://thefooddoc.blogspot.com/2008/02/upd...ac-disease.html

nora


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)

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UPDATE:

Kimball reran my lab test and sent the sample out to a larger lab. (They were very helpful.)

Results: positive for DQ8.

Figures I'd have the rarer one....

Very intersting that they first told you that you were negative, and then re-ran the test and even sent it out to another lab.

D wonder how many others have just given up after they were told the test was negative.

I have re-read the wiki page on DQ and they give several reasons as to why people are mistyped.

Did they give you an explanation to why your first test was negative, and the second test was positive?

I suspect one lab used serotyping and the other used a different method.

On the wiki page they mention that the serotyping tests for DQ8 are not so sensitive I think.

http://en.wikipedia.org/wiki/HLA-DQ

Did the doctor question the gene test result and refer to the positive Ttg result and ask them to re-do the test? Or did you manage to get them to re-do the test?

Added: this may explain why the tests for DQ8 can be a bit difficult, as I can see 5 different Dq8 here:

http://en.wikipedia.org/wiki/MHC_II_DR

and the other wiki page on DQ gives some reasons for mistyping.

nora


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)

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This is what I found in another forum, I think back in March--I truly believe this to be true. Scientist just do not know yet what genes truly do cause celiac, they only know a few, not all:

http://www.sciencedaily.com/releases/2008/...80302150721.htm

ScienceDaily (Mar. 5, 2008)

Deb

Long Island, NY

Double DQ1, subtype 6

We urge all doctors to take time to listen to your patients.. don't "isolate" symptoms but look at the whole spectrum. If a patient tells you s/he feels as if s/he's falling apart and "nothing seems to be working properly", chances are s/he's right!

"The calm river of your life approaches the rocky chute of the rapids - flow on through. You are the same water. The rocks cannot hurt you. Remember, now and then, that you are the water and not the boat. Flow on!

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I called Kimball and told them that it was very odd that I would be negative DQ2 and 8 since I was a biopsy proven celiac with a mother who was DQ2 positive and a paternal aunt with Celiac disease. They agreed and said they were going to rerun the test. I called a couple of days later, and they said that the picture was "getting clearer" and that they were sending my sample to a larger lab for gene sequencing--or maybe it was gene typing--can't remember-sorry. Very very interesting, but it makes me worry about other family members who have been told that they are DQ2 and 8 negative--like my son.

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Wow , really thought-provoking.

Like Dr. Lewey writes. He has two patients who he thinks are mistyped.

I think the wiki DQ page has the anwer to what happened: They maybe used the cheap serotyping first.

"To detect these potential combinations one uses a technique called SSP-PCR (Sequence specific primer polymerase chain reaction). This techniques works because, outside of a few areas of Africa, we know the overwhelming majority of all DQ alleles in the world. The primers are specific for known DQ and thus, if a product is seen it means that gene motif is present. This results in nearly 100% accurate typing of DQA1 and DQB1 alleles."

So we have to request sequence specific primer polymerase chain reaction.

Now which lab does that? Kimball obviously does not. It would be interesting to know which lab does that.


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)

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Added: here it says Kimball uses PCR testing, the type that is better according to the Wikipedia page on DQ.

https://www.celiac.com/articles/834/1/-Your...dams/Page1.html

"PCR analysis for DQ2 alleles (DQA1*0501, DQA1*0505, and DQB1*0201/*0202) and DQ8 allele (DQB1*0302). "

Maybe their method was not sensitive enought for DQ8, or the method for DQ8 is more difficult, since tehre seem to be several different DQ8 gene types, or you have half a DQ8 gene and they only test the beta chain (according to their site they only test the beta chain for Dq8) ?

Anyway, the wikipedia page says tests for DQ2 are more accurate, leaving DQ8 less accurate by deduction....your case just proved that.


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)

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