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.

[Sking]

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]

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]

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]

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]

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]

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]

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 December 27, 2024 by trents