DQB1*0302, but report says no alleles?

[cracket]

Hi,

I have scoured the forums looking for an answer. My endocrinologist tested me for various vitamins and did the HLA testing. I am deficient in all vitamins - A, E, D, B12, Folate, Iodine. This points to an absorption problem - not likely SIBO due to folate level being so low. The HLA testing came back, and I do not have either DQ2, DQ8 haplotypes. I did test positive for the DQB1*0302 allele. It appears I also have DQA1*01:02, DQA1*02:01, and DQB1*06:04. My Labcorp report says I was positive for DQ8, noting only the one allele. However, it says I am not positive for any of the risk alleles. That doesn't seem right. 

My endo encouraged me to go gluten-free. I'm ok with that. Just looking to see if this allele makes me more likely to have a gluten issue, or if I need to go down another path. I would appreciate any insight you guys can offer.  

[kareng]

40 minutes ago, cracket said:

Hi,

I have scoured the forums looking for an answer. My endocrinologist tested me for various vitamins and did the HLA testing. I am deficient in all vitamins - A, E, D, B12, Folate, Iodine. This points to an absorption problem - not likely SIBO due to folate level being so low. The HLA testing came back, and I do not have either DQ2, DQ8 haplotypes. I did test positive for the DQB1*0302 allele. It appears I also have DQA1*01:02, DQA1*02:01, and DQB1*06:04. My Labcorp report says I was positive for DQ8, noting only the one allele. However, it says I am not positive for any of the risk alleles. That doesn't seem right. 

My endo encouraged me to go gluten-free. I'm ok with that. Just looking to see if this allele makes me more likely to have a gluten issue, or if I need to go down another path. I would appreciate any insight you guys can offer.  

Did they test you for Celiac? Please don’t go Gff until you have at least had the blood antibody testing

[cracket]

16 minutes ago, kareng said:

Did they test you for Celiac? Please don’t go Gff until you have at least had the blood antibody testing

They did. My antibodies were neg. The endo doesn't like those tests, and he prefers the DNA testing. His take is that I have one of the genes and am at least gluten intolerant. He is calling Labcorp to get a more detailed report, which we'll go over in a month. I'm just trying to make sense of it all. There's a lot of info hitting me at one time, and I'm trying to understand it all. 

[kareng]

About 30% of people have a gene for Celiac but only about 1% actually have Celiac.

did he at  least do the endoscopy and get positive biopsies?  

Sounds like you might need to educate yourself or get another GI

https://www.cureceliacdisease.org/screening/

 

 

 

[cracket]

2 minutes ago, kareng said:

It's my endocrinologist. I'm aware of the screening process for a definite diagnosis. I understand I need to be on gluten for a biopsy. I went through a lot of this - minus the DNA testing - about 10 years ago. My question is whether this one gene, DQB1*0302, is a risk factor for Celiac or gluten intolerance in the absence of DQ8 combo. The report says I am DQ8 positive, but then says I have no risk. It seems to be conflicting info. I can't seem to find clear answers on the internet either. Thanks so much for your input!

 

 

 

 

[cyclinglady]

Karen has given you excellent advice.  

Why are you seeing an endo?  Do you have Type 1 Diabetes or Autoimmune Thyroiditis?  Those are common with celiac disease.  

Going gluten free for life is a big game changer.  It would be nice to be sure you actually have celiac disease and not Crohn’s which can also cause malabsorption.  Exactly which tests were given.  For example, if my GI had not ordered the complete celiac panel, my diagnosis might have been missed.  

Like Karen, I would suggest a Gastroenterologist consult.  Your endo does not sound celiac-savvy at all.  He should stick to his specialty.  

http://www.cureceliacdisease.org/screening/

[cracket]

Yes. I have Hashimoto’s, among other issues. tTG was < 2, IGA was mid-normal range. I will likely follow up with a gastroenterologist.

The page you point me to does have  info on DNA testing. It mentions the gene pair for DQ 8. I have only one of the two - the beta chain 0302. I am trying to find out if you always have to have the DQ2 or DQ8 combo to have the potential to develop Celiac disease or if a partial on DQ8 also gave a higher risk. 

I’ll keep looking. Thanks for your input. 

[cyclinglady]

If you use the search box, you can find other posts from members who do not have the common celiac genes yet have celiac disease.  It seems like there are genes that have not been identified.  There are always oddities.  Like those 23 and me tests. Very inaccurate.  Why?  They are only using data they have gathered.  If I recall most data is from the US and Europe.  So, the results are off.  The gene checking mania has not reached say, South America or Russia yet.  A  journalist tested them and had her identical sister take them and they got different results.  Their genes were the same but they got a different interpretation.  That is what is lacking.  Reading them.  

https://m.youtube.com/watch?v=Isa5c1p6aC0

I know, a gene test ordered by your doctor is not the same as those OTC home tests, but my point is that there is no “slam dunk” test to diagnose celiac disease.  

I am not gene savvy at all.  I do not even know that I have the genes.  But I do know I had the risk to develop it as I too, had Hashimoto’s when I was diagnosed with celiac disease.  I also know that I tested oddly.  I have never had a positive TTG or EMA on repeated tests.  Only a positve DGP IgA, yet biopsies revealed moderate to severe patches of damage.  Later, my intestine healed per a repeat biopsy and after a gluten-free diet.  

Make sure you had the complete panel.  Know that some celiacs are seronegative (like almost 10%).  It is why working with a GI is best.  He or she can look for the damage.  Your endo can not.  

Edited March 13, 2019 by cyclinglady

[cyclinglady]

FYI.  Gene testing is usually used to rule out celiac disease — not to diagnose it.  In some cases, when an endoscopy can not be done, with positive antibodies, genes and testing a gluten-free diet, can help a doctor diagnose celiac disease.  But the gold standard, still, is obtaining intestinal biopsies.  Researchers have been looking at easier ways to diagnose celiac disease but have not been successful.  

I thought for sure my niece had celiac disease.  Turns out she has Crohn’s.  If you have GI issues, see a GI.  He or she can better interpret your gene results too.