Jump to content

  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.



  • Celiac.com Sponsor (A1):

    Celiac.com Sponsor (A1-M):

  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Need help understanding HLA DQ test

EMBP
 Share

Recommended Posts

EMBP Newbie
EMBP
Posted

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?

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


frieze Community Regular
frieze
Posted

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
cyclinglady
Posted
(edited)

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?  

Edited by cyclinglady

Create an account or sign in to comment

You need to be a member in order to leave a comment

Create an account

Sign up for a new account in our community. It's easy!

Register a new account

Sign in

Already have an account? Sign in here.

Sign In Now
 Share
Go to topic listing

  • Get Celiac.com Updates:
    Support Celiac.com:
    Join eNewsletter
    Donate
  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):



    Celiac.com Sponsors (A17-M):



  • Recent Activity

    1. Scott Adams
      - Scott Adams replied to HAUS's topic in Gluten-Free Foods, Products, Shopping & Medications
      7

      Sainsbury's Free From White Sliced Bread - Now Egg Free - Completely Ruined It

      In the U.S., most regular wheat breads are required to be enriched with certain B-vitamins and iron, but gluten-free breads are not required to be. Since many gluten-free products are not enriched, we usually encourage people with celiac disease to consider a multivitamin. In the early 1900s, refined white flour replaced whole grains, and people began...
    2. Scott Adams
      - Scott Adams replied to deanna1ynne's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms
      13

      Inconclusive results

      Keep in mind that there are drawbacks to a formal diagnosis, for example more expensive life and private health insurance, as well as possibly needing to disclose it on job applications. Normally I am in favor of the formal diagnosis process, but if you've already figured out that you can't tolerate gluten and will likely stay gluten-free anyway, I wanted...
    3. JoJo0611
      - JoJo0611 replied to JoJo0611's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms
      6

      CT with contrast.

      Thank you.
    4. deanna1ynne
      - deanna1ynne replied to deanna1ynne's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms
      13

      Inconclusive results

      Thank you all so much for your advice and thoughts. We ended up having another scope and more bloodwork last week. All serological markers continue to increase, and the doc who did the scope said there villous atrophy visible on the scope — but we just got the biopsy pathology report back, and all it says is, “Duodenal mucosa with patchy increased int...
    5. cristiana
      - cristiana replied to HAUS's topic in Gluten-Free Foods, Products, Shopping & Medications
      7

      Sainsbury's Free From White Sliced Bread - Now Egg Free - Completely Ruined It

      Thanks for this Russ, and good to see that it is fortified. I spend too much time looking for M&S gluten-free Iced Spiced Buns to have ever noticed this! That's interesting, Scott. Have manufacturers ever said why that should be the case?
  • Celiac.com Sponsor (A19):


  • Member Statistics

    • Total Members
      132,436
    • Most Online (within 30 mins)
      7,748
    Vivien Armstrong
    Newest Member
    Vivien Armstrong
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A22):



  • Celiac.com Sponsor (A21):


  • Upcoming Events

  • Posts

    • Scott Adams
      Sainsbury's Free From White Sliced Bread - Now Egg Free - Completely Ruined It

      By Scott Adams · Posted

      In the U.S., most regular wheat breads are required to be enriched with certain B-vitamins and iron, but gluten-free breads are not required to be. Since many gluten-free products are not enriched, we usually encourage people with celiac disease to consider a multivitamin.  In the early 1900s, refined white flour replaced whole grains, and people began developing serious vitamin-deficiency diseases: Beriberi → caused by a lack of thiamin (vitamin B1) Pellagra → caused by a lack of niacin (vitamin B3) Anemia → linked to low iron and lack of folate By the 1930s–40s, these problems were common in the U.S., especially in poorer regions. Public-health officials responded by requiring wheat flour and the breads made from it to be “enriched” with thiamin, riboflavin, niacin, and iron. Folic acid was added later (1998) to prevent neural-tube birth defects. Why gluten-free bread isn’t required to be enriched? The U.S. enrichment standards were written specifically for wheat flour. Gluten-free breads use rice, tapioca, corn, sorghum, etc.—so they fall outside that rule—but they probably should be for the same reason wheat products are.
    • Scott Adams
      Inconclusive results

      By Scott Adams · Posted

      Keep in mind that there are drawbacks to a formal diagnosis, for example more expensive life and private health insurance, as well as possibly needing to disclose it on job applications. Normally I am in favor of the formal diagnosis process, but if you've already figured out that you can't tolerate gluten and will likely stay gluten-free anyway, I wanted to at least mention the possible negative sides of having a formal diagnosis. While I understand wanting a formal diagnosis, it sounds like she will likely remain gluten-free either way, even if she should test negative for celiac disease (Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If her symptoms go away on a gluten-free diet, it would likely signal NCGS).        
    • JoJo0611
      CT with contrast.

      By JoJo0611 · Posted

      Thank you. 
    • deanna1ynne
      Inconclusive results

      By deanna1ynne · Posted

      Thank you all so much for your advice and thoughts. We ended up having another scope and more bloodwork last week. All serological markers continue to increase, and the doc who did the scope said there villous atrophy visible on the scope — but we just got the biopsy pathology report back, and all it says is, “Duodenal mucosa with patchy increased intraepithelial lymphocytes, preserved villous architecture, and patchy foveolar metaplasia,” which we are told is still inconclusive…  We will have her go gluten free again anyway, but how soon would you all test again, if at all? How valuable is an official dx in a situation like this?
    • cristiana
      Sainsbury's Free From White Sliced Bread - Now Egg Free - Completely Ruined It

      By cristiana · Posted

      Thanks for this Russ, and good to see that it is fortified. I spend too much time looking for M&S gluten-free Iced Spiced Buns to have ever noticed this! That's interesting, Scott.  Have manufacturers ever said why that should be the case?  
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.