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Need help understanding HLA DQ test


EMBP

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EMBP Newbie

My GI diagnosed me with Celiac back in July based on symptoms and a positive endoscopic biopsy (Marsh 3b damage). Antibody tests were negative, but I'd been gluten free for 3 weeks prior to that blood draw. The only other off lab was low Vitamin D. A repeat biopsy after 3 months being gluten-free showed complete healing. Repeat antibody tests were again negative - but I'd been gluten-free for 3 months at that point. The genetic HLA DQ tests from LabCorp were also run after the 3-month followup endoscopy. These results are what I'm a little confused on. The GI told me over the phone he'd have to rescind the initial Celiac diagnosis because my genetic tests were, in his words, negative. At my follow up visit, he explained that my case was confusing, but the negative genetic tests ruled out Celiac, and the damage seen on the first biopsy must've been caused by something other than Celiac, such as NSAID use or an autoimmune condition. He said I likely have a gluten sensitivity and recommended I stay on gluten-free diet. I left his office satisfied with his impressions. But, then I looked at the lab results he sent with me for the genetic tests.

My lab results clearly say that I am POSITIVE for DQ2 (DQA1 0501/0505,DBQ1 2XX), but NEGATIVE for DQ8.

I don't know how to interpret what I think is the allele info:

DQA1*01:HXJ, 05:01 

DBQ1*02:BECED, 06:AURFZ.

"Patient is positive for DQ2. Celiac disease risk from the HLA DQA/DQB genotype is approximately 1:35 (2.9%)." 

Does this mean I have 1 copy of DQ2?

After researching to the point of total confusion with everything I read saying a Celiac predisposition can be found in people with DQ2, AND/OR DQ8 genetic markers, I called and left a message for my GI asking for further explanation as to why he'd ruled out Celiac, when I tested positive for DQ2. His nurse called back and said that he told her to tell me that, since I'm DQ8 negative, I can't have Celiac. I am totally confused. Am I missing something in the allele results that rules out Celiac for me? Is my doctor correct that Celiac should be ruled out because I don't have the DQ8 marker, even though I'm positive for DQ2?


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frieze Community Regular

mmmmmmmm, telling myself to take a deep breath.....your doc is an ass.  get new doc, take records with, to new doc.  make sure new doc is celiac aware.    argh...... deep breath....

cyclinglady Grand Master

Get a new celiac-savvy GI!  You have celiac disease based on biopsies (showing healing on a repeat) and the gene test results.  Your blood work might have been positive too (although some celiacs are seronegative).  Did he run the entire panel?  I never test positive to the TTG.  EVER!  Yet I am biopsies confirmed.  

Get and maintain all your medical records.  

If this GI can not google your gene results and understand them, what else can he be missing?  

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