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Negative Biopsy Positive HLADQ2 Genetic test

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Hi all I am a newly diagnosed member of the group. My GI doc diagnosed me last week. I have had a ton of symptoms over the past year and a half and went gluten free in June. I started testing with blood work two weeks later and was negative for the antibodies. After my big race in September I did a 2 week gluten challenge (all I was willing to do) and have a biopsy which was negative. My GI doc then checked the HLA DQ 2 and 8 genetic test and I was positive for HLA DQ 2 and DQ5. He felt that I just did not eat gluten long enough to have a positive biopsy. He said I have Celiac. I agree based on my symptoms but at times it feels weird that I did not have a positive biopsy to confirm it. Has anyone had a similar experience? 


My main symptoms:

Iron Def. Anemia requiring iron infusion

Vit D deficiency

Malabsorption syndrome

I could not 30min w/o GI distress I had been able to run 2hours

Multiple BM's that were large and loose daily

Nausea, weird and inappropriate hunger

Weight gain eating healthy food and with heavy exercise hours

Between April and August I broke out in hives/rash 3x all over with no clear reason why and no history of skin rashes before. 

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Hi, welcome!  its kind of good your doctor has tried to be thorough with testing. A lot won't bother with the genetic testing after negative antibodies and biopsy. 

My testing was based on gluten challenge, positive antibodies and a positive HLA DQ8.

Did your doctor test the full panel? There is another test I believe if a person tests negative for antibodies as there's some people who don't create the necessary antibodies. Sorry I don't have the info at the moment (maybe someone else does..I think its DGP Iga)?

The HLA testing doesn't necessarily mean a person has celiac disease (but has the potential to develop it) so your doctor was obviously going on your symptoms/gluten challenge too. If you feel much better without gluten then just stay off it if you can because if you do have celiac disease then it'll be causing your body damage. Is it that you were hoping for a more definitive result to keep you on the straight and narrow? Your doctor seems fairly sure and maybe your blood test result was close enough.  Good luck 

Edited by VeggieGal

Celiac.com - Celiac Disease Board Moderator

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I feel so much better being gluten-free its unbelievable. I don't doubt by doctor at all I just kind of feel like an "imposter celiac" b/c I don't have a positive biopsy result. I think I am pretty willing to accept that is what I have given my constellation of symptoms it just occasionally pops into my head that there is the possibility that I am not. I think we did the DG IGa thing when I was on a gluten free diet already. 

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