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

[Sking]

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.

 

[Scott Adams]

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]

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]

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]

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]

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]

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.