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Test Result Interpretation Help Please!
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4 posts in this topic

Hi,

I am new here. My 5 yr old son was negative for all celiac disease bloodwork in 2010 and July 2012. He used to have mild GI symptoms that improved drastically after determining he is lactose intolerant, but he still had some ongoing, occassional issues until I realized that he also has an issue with fructose. I'm happy to report that since I started limiting his fructose intake in August, all of his symptoms have completely resolved and he is doing well, gaining weight, and growing :) I should mention that he was borderline anemic in July (10.8hgb) that has gone up to 12.2 with a low dose iron supplement. Likewise, since I started limiting his fructose, his appetite has increased tenfold (he never was hungry before!) and he is the happiest I've ever seen him. All of this has really made me believe in the fructose malabsorption diagnosis.

We have seen 2 GIs (NJ/NYC) and both were not concerned with celiac disease any longer; they felt we had ruled that out. Both agreed that if I saw complete resolution of symptoms with the new low fructose diet, that is it. However, my pediatrician decided to throw a wrench in the works and said, "Why don't we do the DNA testing for celiac disease? It will show us for certain that he doesn't have the gene and you can forget about it." Well, now I get these results. And of course, the pediatrican doesn't know how to interpret them other than to read the paper to me and tell me that not everyone with the gene will get celiac disease. I'd also like to know what these results may mean for my other 2 children (healthy).

Please help! I'm waiting to hear from the specialist.

Thank you so much in advance.

Lab Corp results:

Celiac HLA-DQ Result

DQ Alpha 1 01, 03

DQ Beta 1 03:02, 05

Interpretation:

These genes are permissive for celiac disease. The absence of HLA celiac permissive genes would make the presence of celiac disease unlikely. However, these genes can also be present in the normal population.

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I'm not the gene person, I'm just bumping this up and hoping someone else more literate sees it. But, I think that means he's got the DQ2 gene, just like 30% (roughly) of the population. However, having the gene does not mean one automatically goes on to become celiac, it just means that the person is capable of it. Most celiacs have DQ2, but, obviously, not all DQ2's have celiac, or we'd see nearly a third of the population having a "gluten" problem with their digestive enzymes not being able to handle wheat family proteins. Also, one does not HAVE to have the DQ2 genes for celiac, there are the DQ8 genes, and there are a few rare people with more unusual types (DQ1 and they are celiac) or which seems to predispose them for what can only be called gluten intolerance (shorthand for "had bad symptoms, flunked the tests, responded to diet anyway.)

So don't panic, but be aware of the symptoms for celiac and gluten intolerance, and be vigilant.

http://en.wikipedia.org/wiki/HLA-DQ2

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Thank you so much for responding, Takala. This is all very confusing and I'm so eager for answers. From what I've read today, I thought that having the combination of A1*03 with B1*0302 gives him DQ8.

I am reading his results as:

A1*03

A1*01

B1*0302

B1*0305.

I don't know at all if this is correct, but I am trying. If I look at it this way, that one gene combo I mentioned above =DQ8. I don't know what to make of the other 2 (A1*01 and B1*0305).

I didn't see anything for DQ2, but again, I am new to this. I'm not sure what to look for! I do know that DQ2 and DQ8 are both higher risk genes for Celiac.

Thanks again-

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Ok, so the GI nurse just called me and told me that he has DQ2 and DQ8. I don't know how she got DQ2 (can someone please help explain it?)

She said that since all his current bloodwork is negative for Celiac, they will not do anything now and instead will re-test him every few years.

Any advice? Help? Please!

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