Jump to content
This site uses cookies. Continued use is acceptance of our Terms of Use and Privacy Policy. More Info... ×
  • 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

Please help me understand my Celiac Gene Restuls, thank you.


Sking

Recommended Posts

Sking Rookie

Hello,

I am in the very early stages of my doctors trying to see if I have Celiac disease. To be honest, I feel overwhelmed and scared. Would anyone be able to help me know what these results mean? My doctor said it takes 2-3 weeks to talk to me about my results.

DQ2 (DQA1 0501/0505,DQB1 02XX) 01 Negative
DQ8 (DQA1 03XX, DQB1 0302) 01 Positive


Final Results:
DQB1*03:EWDKA,05:EWDKC
DQA1*01:EWDPH,03:EWCPZ

Thank you for anyone who has insight into what this means. I truly appreciate it.

 


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



Celiac.com Sponsor (A8-M):



Scott Adams Grand Master

Welcome to the forum. It looks like your DQ8 result is positive, which means you have a small chance of developing celiac disease. You should confirm this with your doctor, or the company who performed the test for you.

This does not mean that you have, or will develop celiac disease, but it does mean that you could have it now, or could develop it at some point in your life.

Did you get the test because you have symptoms of celiac disease, or issues with gluten sensitivity?

trents Grand Master

To simplify this for you, there are two primary genes that have been linked to the potential for developing celiac disease, HLDQ2 and HLDQ8. You have one of them. This means you have the potential to develop celiac disease. It does not mean you have celiac disease or will develop celiac disease. It just means you have the potential to do so. Almost 40% of the population has the genetic potential to develop celiac disease but only about 1% actually develops it. So, having a celiac gene cannot be used by itself to diagnose celiac disease but not having the genetic potential can be used to rule it out. Does that make sense?

It takes the genetic potential and some kind of triggering biological stress to "turn the genes on", as it were, in order to develop active celiac disease. What the triggers are is largely a mystery but we believe one kind of trigger can be a viral infection or some kind of illness experience. It's possible it could also be prolonged mental/psychological stress, overuse of antibiotics, environmental toxins . . . Like I said, this part of the equation we don't know much about yet.

HLDQ2 and HLDQ8 also have variants that can be associated with the development of celiac disease. Having both HLDQ2 and HLDQ8 seems to enhance the probability of developing celiac disease as does having two copies of either gene or both and these combinations of genetic factors may also have a bearing, or so it seems, on the level of sensitivity to small amounts of gluten experienced by various members in the celiac community and the intensity of their reactions to gluten exposures. Some celiacs are "silent". That is, they seem not to experience discernable distress when ingesting even larger amounts of gluten (even though it is causing at least some inflammation in the small bowel lining) while others have intense reactions to the ingestion of even the tiniest amount of gluten.

Although genetic testing cannot be used as a standalone diagnostic test for celiac disease, it can be helpful as corroborating evidence in the case of those who are already eating gluten free and react so intensely to gluten consumption that they cannot endure the "gluten challenge" necessary to produce valid antibody test results needed to distinguish between celiac disease and NCGS (Non Celiac Gluten Sensitivity).

I hope this helps.

Have you had the blood draw done yet for celiac antibody testing?

Sking Rookie

Hi Scott,

I really appreciate you already welcoming me and answering my questions.

I (very strangely) came down with C-Diff in June of this past year. It did a number on my body. It took several months for me to get back to normal. Because of this, they followed up with a Colonoscopy and during the colonoscopy, they took a biopsy.

The results of that colon biopsy were: colonic mucosa with patchy prominence of intraepithelial lymphocytes noted

When those results came back, my doctor suggested doing this gene test to start with.

The only symptom I am having is lighter color stools that often float. I wondered though if that is attributed to chia seeds, fiber supplements, and other things in my diet.

Other than that, I do not have any symptoms of celiac. I do realize that I could have it without symptoms.

I am wondering what my doctor will suggest is the next step towards trying to see if I have it.

Thank you for your time.

Sking Rookie
3 minutes ago, trents said:

To simplify this for you, there are two primary genes that have been linked to the potential for developing celiac disease, HLDQ2 and HLDQ8. You have one of them. This means you have the potential to develop celiac disease. It does not mean you have celiac disease or will develop celiac disease. It just means you have the potential to do so. Almost 40% of the population has the genetic potential to develop celiac disease but only about 1% actually develops it. So, having a celiac gene cannot be used by itself to diagnose celiac disease but not having the genetic potential can be used to rule it out. Does that make sense?

It takes the genetic potential and some kind of triggering biological stress to "turn the genes on", as it were, in order to develop active celiac disease. What the triggers are is largely a mystery but we believe one kind of trigger can be a viral infection or some kind of illness experience. It's possible it could also be prolonged mental/psychological stress, overuse of antibiotics, environmental toxins . . . Like I said, this part of the equation we don't know much about yet.

HLDQ2 and HLDQ8 also have variants that can be associated with the development of celiac disease. Having both HLDQ2 and HLDQ8 seems to enhance the probability of developing celiac disease as does having two copies of either gene or both and these combinations of genetic factors may also have a bearing, or so it seems, on the level of sensitivity to small amounts of gluten experienced by various members in the celiac community and the intensity of their reactions to gluten exposures. Some celiacs are "silent". That is, they seem not to experience discernable distress when ingesting even larger amounts of gluten (even though it is causing at least some inflammation in the small bowel lining) while others have intense reactions to the ingestion of even the tiniest amount of gluten.

Although genetic testing cannot be used as a standalone diagnostic test for celiac disease, it can be helpful as corroborating evidence in the case of those who are already eating gluten free and react so intensely to gluten consumption that they cannot endure the "gluten challenge" necessary to produce valid antibody test results needed to distinguish between celiac disease and NCGS (Non Celiac Gluten Sensitivity).

I hope this helps.

Have you had the blood draw done yet for celiac antibody testing?

Trents,

 Thank you for the informative information.

It's interesting that you suggested an infection or something 'triggers' celiac disease. I have been wondering if this happened because I was hospitalized with E-Coli last December and then hospitalized in June with C-Diff.

So, they did do the Antibody Testing but never told me anything about needing to prep by eating a good amount of gluten for several weeks prior. My doctor thinks we would have to re-test as she isn't sure the results were entirely accurate. I did not 'abstain' from gluten but I didn't know I was supposed to purposely eat a certaim amount of gluten for 6 weeks prior. They failed to tell me this before I got the blood test.

Here are the results of my antibody testing from September:

Deamidated Gliadin Abs, IgG: 27

t-Transglutaminase (tTG) IgA: 3

Endomysial Antibody IgA: Negative

Immunoglobulin A, Qn, Serum: 111

 

Thanks for any input, I appreciate this site.

Scott Adams Grand Master
24 minutes ago, Sking said:

Hi Scott,

I really appreciate you already welcoming me and answering my questions.

I (very strangely) came down with C-Diff in June of this past year. It did a number on my body. It took several months for me to get back to normal. Because of this, they followed up with a Colonoscopy and during the colonoscopy, they took a biopsy.

The results of that colon biopsy were: colonic mucosa with patchy prominence of intraepithelial lymphocytes noted

When those results came back, my doctor suggested doing this gene test to start with.

The only symptom I am having is lighter color stools that often float. I wondered though if that is attributed to chia seeds, fiber supplements, and other things in my diet.

Other than that, I do not have any symptoms of celiac. I do realize that I could have it without symptoms.

I am wondering what my doctor will suggest is the next step towards trying to see if I have it.

Thank you for your time.

A simple blood test should be done, and is usually the first step in diagnosing celiac disease. To do this you need to be eating lots of gluten daily for 6-8 weeks before doing the test.

This article might be helpful. It breaks down each type of test, and what a positive results means in terms of the probability that you might have celiac disease. One test that always needs to be done is the IgA Levels/Deficiency Test (often called "Total IGA") because some people are naturally IGA deficient, and if this is the case, then certain blood tests for celiac disease might be false-negative, and other types of tests need to be done to make an accurate diagnosis. The article includes the "Mayo Clinic Protocol," which is the best overall protocol for results to be ~98% accurate.

 

 

trents Grand Master

I assume you were on antibiotics for the E-coli infection? C-diff almost always is the result of prolonged and/or repeated antibiotic treatment. And there is a growing consensus that celiac disease is connected with gut dysbiosis which in turn is likely connected with first world overuse of antibiotics, preservatives and carbohydrate intensive/low nutrient diets. We are wrecking our gut microbiomes and those with genetic potential for celiac disease are reaping the fruit of it. 

Can you repost post those antibody test scores but this time include the ranges for positive vs. negative. Each lab uses their own scale for these. There is no industry standard yet.

Recently revised "gluten challenge" guidelines recommend the daily consumption of at least 10g of gluten (about the amount in 4-6 slices of wheat bread) for at least two weeks leading up to the antibody testing blood draw. To be sure, I would extend that to four weeks. Sadly, many practitioners neglect to (or don't know to) inform their patients of this before testing and so much testing done results in unclear outcomes.

In your original post you mentioned lab analysis done from a colonoscopy. Colonoscopies cannot be used to diagnose celiac disease because they cannot get into the small bowel from the bottom end. Celiac disease causes damage to the lining of the small bowel which is accessed by an endoscopy. They take biopsies and send them to a lab for microscopic analysis.


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



Celiac.com Sponsor (A8-M):



  • 1 month later...
Sking Rookie

I just received my lab results from the endoscopy/biopsies to see if I have Celiac.

My doctor's office said it could take up to two weeks for the doctor to read the results and contact me to interpret them.

I am wondering if anyone can help me to understand my results?

On one hand, it seems like maybe I don't have it, but have something called Brunner Glands Hyperplasia, on the other hand it says I have increased lymphocytes and villous distortion. I am very confused. How will the doctor decide if I do or don't have it? I am so confused about all of this from the start of the journey a year ago, I really appreciate people's time on here reading this and helping me understand. Thank you.

 

Anatomic Pathology Report
Test Current Result and Flag Previous Result and Date Units Reference Interval
Diagnosis synopsis: 01
Part 1-Gastric ,Upper GI Polyp(s), Excision, Stomach:
PARIETAL CELL HYPERPLASIA IDENTIFIED. NEGATIVE FOR
DYSPLASIA.
Part 2-Duodenum ,Duodenum Biopsy: DUODENAL MUCOSA WITH NO
DIAGNOSTIC ABNORMALITIES. NO EVIDENCE OF CELIAC DISEASE.
NEGATIVE FOR GIARDIA, OTHER PARASITES OR OTHER PATHOGENIC
ORGANISMS. NEGATIVE FOR HELICOBACTER PYLORI. NEGATIVE FOR
DYSPLASIA OR MALIGNANCY.
Part 3-Bulb,Duodenum Biopsy: DUODENAL MUCOSA WITH INCREASED
INTRAEPITHELIAL LYMPHOCYTES AND VILLOUS DISTORTION. SEE
COMMENT.
Specimen: 01
Part 1-Gastric ,Upper GI Polyp(s), Excision, Stomach
Part 2-Duodenum ,Duodenum Biopsy
Part 3-Bulb,Duodenum Biopsy
Endoscopic findings: 01
Part 1-Polyp
Part 2-
Part 3-
Clinical diagnosis: 01
Part 1-
Part 2-R/O Celiac Sprue
Part 3-R/O Celiac Sprue
Diagnosis: 01
Part 1-PARIETAL CELL HYPERPLASIA IDENTIFIED. NEGATIVE FOR
DYSPLASIA.
Part 2-DUODENAL MUCOSA WITH NO DIAGNOSTIC ABNORMALITIES. NO
EVIDENCE OF CELIAC DISEASE. NEGATIVE FOR GIARDIA, OTHER
PARASITES OR OTHER PATHOGENIC ORGANISMS. NEGATIVE FOR
HELICOBACTER PYLORI. NEGATIVE FOR DYSPLASIA OR MALIGNANCY.
Part 3-DUODENAL MUCOSA WITH INCREASED INTRAEPITHELIAL
LYMPHOCYTES AND VILLOUS DISTORTION. SEE COMMENT.
Comment: 01
Part 1-
Part 2-
Part 3- Villous distortion could be due to Brunner glands
hyperplasia and not truly associated with celiac disease.
Please see the diagnosis of Jar 2. Recommend clinical
correlation.
Anatomic Pathology Report (Cont.)
Part 1-There is parietal cell hyperplasia with enlargement
and dilatation of the lumens of some oxyntic glands. No
dysplasia is seen.
Part 2-Duodenal mucosa shows preserved villous architecture
and normal cellularity of the lamina propria. Brunner
glands are identified. No gastric metaplasia is seen. No
dysplasia or malignancy is identified. There are no viral
inclusions. No Giardia, other parasites or other pathogenic
organisms are seen. No Helicobacter pylori organisms are
identified.
Part 3-Increased numbers of intraepithelial lymphocytes are
noted (>6 lymphocytes/20 enterocytes at villous tips).
Duodenal mucosa also shows villous distortion and slightly
increased cellularity of the lamina propria. Brunner glands
are hyperplastic.
Gross description: 01
Part 1-The specimen is received in formalin labeled "KING,
SHOSHANNA, Gastric Polyp ". Received are 2 fragments of
tan, soft, tissue measuring 0.4 x 0.3 x 0.1 cm to 0.3 x 0.2
x 0.1 cm. The specimen is submitted entirely in cassette 1.
Part 2-The specimen is received in formalin labeled "KING,
SHOSHANNA, Duodenum Bx ". Received are multiple fragments
of tan, soft, tissue measuring 0.5 x 0.2 x 0.2 cm to 0.1 x
0.1 x 0.1 cm. The specimen is submitted entirely in
cassettes 1-2. Minute fragment(s) may not survive
processing.
 

Sking Rookie

I just got the results from my upper endoscopy/biopsies. Would you be able to click on my recent post from tonight and let me know what you think? I really appreciate it. I want to make note that I do have Lymphocytic Colitis.

Thanks for your time.

trents Grand Master

IMO, Part 3 has some abnormalties that could indicate the early stages of celiac disease but the doctor is tentatively thinking not, at least at this point.

Sking Rookie

Thanks for taking a look. I also just did some research and saw that increased numbers of intraepithelial lymphocytes and villous distortion can possibly be from lymphocytic colitis (which I was diagnosed with this past summer)....so fingers crossed this is what she will say it is.

 

trents Grand Master

Well, I wouldn't rule either out. And you might consider trialing a gluten free diet for a few months to see if symptoms improve. That would tell you a lot. By the way, the incidence of other bowel diseases is higher in the celiac population than it is in the general population. And even if you don't have celiac disease, you could have NCGS. Gluten is just problematic for a lot of folks for various reasons.

Sking Rookie

So the strange thing is I don't have any symptoms at all, except the soft stools (comes and goes) which they told me was from the Lymphocytic colitis. I had some mild positives on my antibody test and one gene was positive which is what made my doctor go ahead with the endoscopy. The reason they started any of this was finding the lymphocytic colitis this past summer after I had C Diff and she said, Well....it may be from something like Celiac....

Definitely a lot to learn through all of this and I appreciate people like you taking the time to help out a stranger like me!

trents Grand Master
(edited)

Well, the only thing I would conclude with would be, if you choose not to trial the gluten free diet, is to encourage you to get periodically tested, either antibody blood tests or the biopsy or both. I think it something that needs to be monitored.

Edited by trents

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

  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      127,877
    • Most Online (within 30 mins)
      7,748

    Sasha bul
    Newest Member
    Sasha bul
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121k
    • Total Posts
      70.5k

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • Scott Adams
      @Mynx, how long have you been gluten-free? I ask because many newly diagnosed celiacs react to many things, and often think their reactions are caused by gluten, when in fact, they are really caused by a combination of a sensitive gut due to damage, as well as additional food intolerance/leaky gut issues to other foods which may be temporary until their villi heal.
    • Scott Adams
      Many major brands of distilled vinegar in the USA, including Heinz white vinegar, are typically made from corn. In the United States, corn is a common and cost-effective raw material used in the production of distilled white vinegar. The process involves fermenting the sugars derived from corn into alcohol, which is then further fermented into acetic acid to produce vinegar. Distillation follows, which purifies the liquid and removes impurities, including any residual proteins or allergens. While the source of the vinegar (e.g., corn) is not always explicitly stated on the label, corn-derived vinegar is widely used in the food industry due to its neutral flavor and affordability. For individuals with gluten intolerance or celiac disease, distilled vinegar made from corn is generally considered safe, as the distillation process effectively removes gluten proteins. However, if you have concerns about cross-contamination or specific sensitivities, it’s always a good idea to contact the manufacturer directly to confirm the sourcing and production practices. Heinz, for example, has stated that their distilled white vinegar is gluten-free and safe for those with celiac disease, but verifying this information can provide additional peace of mind. The belief that distilled vinegar is gluten-free is rooted in the scientific understanding that gluten proteins, which are large and complex molecules, are generally too big to pass through the distillation process. Distillation involves heating a liquid to create vapor, which is then condensed back into a liquid form, leaving behind larger molecules like gluten proteins. However, the concern about cross-contamination arises from the possibility that gluten-containing ingredients may have been present in the liquid prior to distillation. While the distillation process itself is highly effective at removing gluten, the equipment used in production could potentially introduce trace amounts of gluten if not thoroughly cleaned between batches. For most individuals with gluten sensitivity or celiac disease, distilled vinegar is considered safe because the gluten content, if any, is typically below the threshold that would trigger a reaction. However, for those with extreme gluten intolerance or celiac disease, even trace amounts can cause adverse effects. This is why some individuals, like yourself, may choose to avoid commercially produced distilled vinegar and opt for alternatives like apple cider vinegar, which can be verified as gluten-free. The meticulous process of researching ingredients and preparing homemade products, such as ketchup, is indeed challenging but crucial for maintaining health and avoiding gluten exposure. It’s important to note that regulatory standards for gluten-free labeling vary by region, and in many places, products labeled "gluten-free" must contain less than 20 parts per million (ppm) of gluten, which is considered safe for the vast majority of people with celiac disease. Nonetheless, individual sensitivity levels can vary, and your approach highlights the importance of personalized dietary management for those with severe gluten intolerance.
    • Bebee
      I have been diagnosed with Microscopic Colitis (LC) for quite a few years, so I have been gluten-free and DF.  I would like to get tested for Celiac Disease because of the possibility of cross contamination and colon cancer.  And if you were hospitalized and didn't have a celiac diagnosis you could not get gluten-free food, I don't know if that is true or not.  Also because there is chance of colon cancer so I want to know if I have Celiac Disease and need to be on very restrictive diet.  The only testing I did was a sigmoid scope and Enter Lab but no gene testing.  I know I can go back to eating gluten for a few months, but I would worry you would have to stay home for the few months while getting gluten.  What other options do I have?  Should I do the gene testing?  Maybe through Entero Lab?  Any other tests?  How important is it to have Celiac diagnosed? Thank you! Barb
    • trents
      Take it easy! I was just prompting you for some clarification.  In the distillation process, the liquid is boiled and the vapor descends up a tube and condenses into another container as it cools. What people are saying is that the gluten molecules are too large and heavy to travel up with the vapor and so get left behind in the original liquid solution. Therefore, the condensate should be free of gluten, no matter if there was gluten in the original solution. The explanation contained in the second sentence I quoted from your post would not seem to square with the physics of the distillation process. Unless, that is, I misunderstood what you were trying to explain.
    • Mynx
      No they do not contradict each other. Just like frying oil can be cross contaminated even though the oil doesn't contain the luten protein. The same is the same for a distilled vinegar or spirit which originally came from a gluten source. Just because you don't understand, doesn't mean you can tell me that my sentences contradict each other. Do you have a PhD in biochemistry or friends that do and access to a lab?  If not, saying you don't understand is one thing anything else can be dangerous to others. 
×
×
  • Create New...