Is My Doctor Right?

[Peta]

I took my 10 year old son to be tested for Celiac as he was underweight and had symptoms off and on. Plus both my sister and nephew have Diagnosed Celiac, and my father is being tested.

My doctor did a Celiac Panel test and a full blood count.

The Celiac test came back negative for Gliadin IgG & IgA, and negative for Tissue transglutaminase IgG and IgA, Endomysial IgA negative.

So I would presume this meant he most likely did not have it.

His gene test came back with both DQ2 genes Positive, and both DQ8 genes Positive.

She said to me "It looks like your son does have celiac"....

but doesn't that just mean he carries the genes and isn't necessarily celiac?

His blood test came back below normal ranges for 'white cell count' and 'lymphocytes' so maybe she was taking that into consideration??

Anyway, she has ordered a bowel biopsy for him which will hopefully let me know.

Just wondered if she is right that he is probably has it, or is she just misreading the gene test??

She isn't very well informed on Celiac as my sister was the first person she had ever had diagnosed with it.

Peta

[tarnalberry]

I presume you mean "both DQ2 and DQ8" - as those are alleles of the singluar HLA gene that is tested for, and unless there is a chromosomal abnormality, then you only have two alleles. You are correct that having the genes (either both of either allele, one of either and one non-celiac contributing allele, or one of each) does not mean that he is celiac at this point in time - only that he has the potential to develop it. But when you combine that indicator with the symptoms he has and the chances of false negatives, it is worth considering that he may still.

At this point, it may be worth doing a strict gluten free diet for two months to see if there is any positive result for the dietary test (also a very valid test).

[Fiddle-Faddle]

You mention "symptoms off and on." Does this mean that his diet may have sometimes been heavy on gluten and sometimes "gluten-lite?" Or even gluten-free? Was he gluten-free at the time of the bloodwork? That would account for all the negative results. Of course, false negatives are possible,and more common in children.

[Rachel--24]

Your son would have one copy of each gene...a DQ2 and a DQ8. They are both Celiac genes and you are correct in saying that having the genes does not mean that he has Celiac....as the Dr. is suggesting.

I agree with Tiffany though....if he has symptoms he may have Celiac and had false negatives in the testing. You could try the diet but wait until after the Endoscopy or any further bloodtests before doing a trial diet.

[Peta]

I presume you mean "both DQ2 and DQ8" - as those are alleles of the singluar HLA gene that is tested for, and unless there is a chromosomal abnormality, then you only have two alleles. You are correct that having the genes (either both of either allele, one of either and one non-celiac contributing allele, or one of each)

The gene test reads ...

HLA DQ2 Alleles

DQA1 *05 Positive

DQB1 *02 Positive

HLA DQ8 Alleles

DQA1 *0301 Positive

DQB1 *0302 Positive

Doesn't this mean he has both of DQ2 and DQ8? What does that mean?

Peta

[chrissy]

DQ2 and DQ8 are two different genes known to be connected to celiac disease. if i understand the literature right, two people can both have the DQ2 gene but have different alleles that code the gene.

[Peta]

DQ2 and DQ8 are two different genes known to be connected to celiac disease. if i understand the literature right, two people can both have the DQ2 gene but have different alleles that code the gene.

Thankyou for the information.

I looked up information on Alleles on the internet and it has enabled me to understand a little better.

When I say he has symptoms off and on I mean that sometimes he is lethargic, sometimes not, sometimes he has stomach pains, sometimes not, sometimes ulcers, etc.

I am going to follow through with the biopsy just to make sure because even if his antibodies show negative, there is still a irregularity with his blood.

He also has tingling feet and to a lesser extent hands, so something is going on?

THANKS AGAIN,

Peta

[Guest cassidy]

The other part of this is that you do have a family history of celiac and your son is having some problems. Before I went gluten-free I don't think I had D after every meal or a stomach ache after every meal and I'm sure I had some good days. So, just because he isn't constantly sick, doesn't mean that he doesn't have a problem with gluten.

Many people have had negative blood tests and their symptoms go away completely when they go gluten-free.

I would recommend trying the diet and seeing if it helps.

[happygirl]

As mentioned above, just having the genes does not mean your child definitively has Celiac. About 30-40% of the American population has these genes...but not everyone has Celiac.

Make sure that during the biopsies, your doctor takes multiple biopsies in multiple sites. Although its still not perfect and can certainly miss damage, it is certainly better than what many doctors do-take one biopsy and leave. Talk about a needle in the haystack.

After the biopsy, it may be worth your while to try a gluten free diet.

Laura

[tarnalberry]

DQ2 and DQ8 are two different genes known to be connected to celiac disease. if i understand the literature right, two people can both have the DQ2 gene but have different alleles that code the gene.

Based on this, Open Original Shared Link (which really appears to be the same as 2 and 8), I came to a different conclusion. Could you point me to the areas of research you've done regarding the two separate genes, since at this point, I'm confused, and would like to look into it a bit more?

[chrissy]

tiffany---that study looks like it labels the DQ gene according to which alleles it has. that is the first time i have ever seen a different number given to the DQ2 gene depending on which alleles it has. (2.2 or 2.5) it looks like this could explain why not everyone with the DQ2 gene gets celiac. i just kept looking up info on the DQ2 gene until i was able to make some sort of sence out of what i was reading. the info is acctually a little contradictory because sometimes DQ2 is referred to as the gene and sometimes the allels are referred to as a gene.

[chrissy]

i found this definition of allele in encarta

allele

al

[tarnalberry]

in this article's case, it's specifically referring to the protein structure coded by the allele with the DQ nomeclature (which, iirc, is fairly common). what I had recalled - and may well be off on - is that it is just one of the HLA genes (there are numeous other ones, I think) which has alleles that allow for the development of celiac, and the alleles (currently considered 'celiac genese') are DQ2 and 8 (in Enterolab's nomenclature). but I'll take a look around when I get a chance. 'cause clearly I'm missing something.

[chrissy]

trying to figure this out is really difficult-----i keep seeing DQ2 and DQ8 referred to as both alleles and genes.