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

Genetic Testing...?

Malmo

Recommended Posts

Malmo Newbie
Malmo
Posted

My antibodies test was negative (once in 2007, and again a month ago). I had the upper endoscopy and it showed "partial villi atrophy"...which they translated to "you're on the fence of having Celiac Disease." So my doctor recommended trying the gluten-free diet for 3 months and coming back in to see him then. I am frustrated and would just like an answer. I have been demanding a genetic test (because if it's negative, then I can NEVER have celiac disease, and we keep looking for what is wrong). He was not happy and said that he has only ever ordered this test once in his whole career. Finally, he agreed to do order the testing...now just waiting to make sure insurance will cover it before I get the blood drawn.

I have felt better going gluten-free, but still cannot eat very many things, even if they are gluten-free. If it is Celiac, I am hoping this is just because I'm still in the "healing" process and I can't eat a whole lot until my stomach heals.

Does anyone have any experience with the genetic testing?

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

Celiac.com Sponsor (A8-M):


mushroom Proficient
mushroom
Posted

My antibodies test was negative (once in 2007, and again a month ago). I had the upper endoscopy and it showed "partial villi atrophy"...which they translated to "you're on the fence of having Celiac Disease." So my doctor recommended trying the gluten-free diet for 3 months and coming back in to see him then. I am frustrated and would just like an answer. I have been demanding a genetic test (because if it's negative, then I can NEVER have celiac disease, and we keep looking for what is wrong). He was not happy and said that he has only ever ordered this test once in his whole career. Finally, he agreed to do order the testing...now just waiting to make sure insurance will cover it before I get the blood drawn.

I have felt better going gluten-free, but still cannot eat very many things, even if they are gluten-free. If it is Celiac, I am hoping this is just because I'm still in the "healing" process and I can't eat a whole lot until my stomach heals.

Does anyone have any experience with the genetic testing?

Hi, and a warm welcome to the forum.

I am a little surprised that your doctor did not promptly give you a diagnosis of celiac disease, with the findings of partial villi atrophy. Would he rather they were totally atrophied??? However, if you really want that diagnosis I would suggest taking a copy of your biopsy findings to another doctor and asking his/her opinion. I am pretty sure that the consensus here on the board will be that you have celiac disease. There is very little else that that I am aware of that causes villous atrophy.

Either way, there is no point in not immediately starting the gluten free diet. I have a feeling that it will be the answer to your prayers. You have had all the testing done, and a gluten free diet will certainly not affect the results of the genetic testing.

There are two main celiac genes they test for, DQ2 and DQ8, plus there are other genes that are now being associated with non-celiac gluten intolerance, and also additional celiac genes are being identified. So, as you probably understand, it will not tell you whether or not you have celiac, and from what we are learning about now with the new genes, probably cannot rule out your ever developing it (although I believe you already have it). I hope I have not confused you further here.

You state you feel better since going gluten free but are still not able to eat a whole lot. It is best at the beginning, as you are probably aware, to stick with a simple whole foods diet and avoid the gluten free substitute grains and products because these are hard for an unhealed gut to digest. Eliminate lactose also because your villi are damaged, and you may have to eliminate casein altogether at first, i.e., all dairy. Let us know what you are eating and we might be able to give you some help. Generally chicken, fish, rice, fruits, vegetables, seeds and nuts like almonds are good. Home made soups and stews are ideal because they are well cooked. Go easy on the raw fibrous vegetables and fruits to start with.

Keep in touch and let us know how you are doing, and what course of action you take.

We are here for you on your gluten free journey. :)

Jestgar Rising Star
Jestgar
Posted

There are no identified "Celiac genes", there are only genes associated with it.

A genetic test is interesting, but not informative. Not having an 'associated' gene does not mean that you can't have the disease, it just means it's less likely. Having an 'associated' gene does not mean you have the disease, it just means it's more likely.

Lisa Mentor
Lisa
Posted

There is very little else that that I am aware of that causes villous atrophy.

Although villous atrophy is not exclusive of celiac disease, it is considered a crucial finding. Other causes of blunted villi include tropical sprue, malnutrition, intolerance to cow's milk, soy protein intolerance, and infectious gastroenteritis. However, most of these conditions can be readily excluded on the basis of clinical history and laboratory data.

tarnalberry Community Regular
tarnalberry
Posted

My antibodies test was negative (once in 2007, and again a month ago). I had the upper endoscopy and it showed "partial villi atrophy"...which they translated to "you're on the fence of having Celiac Disease." So my doctor recommended trying the gluten-free diet for 3 months and coming back in to see him then. I am frustrated and would just like an answer. I have been demanding a genetic test (because if it's negative, then I can NEVER have celiac disease, and we keep looking for what is wrong). He was not happy and said that he has only ever ordered this test once in his whole career. Finally, he agreed to do order the testing...now just waiting to make sure insurance will cover it before I get the blood drawn.

I have felt better going gluten-free, but still cannot eat very many things, even if they are gluten-free. If it is Celiac, I am hoping this is just because I'm still in the "healing" process and I can't eat a whole lot until my stomach heals.

Does anyone have any experience with the genetic testing?

Honestly, I think your doctor is doing a relatively good job. As Lisa mentioned, the other causes of villious atrophy can usually be ruled out based on history and simple tests, so partial atrophy SHOULD be a reason for a diagnosis. (I would consider asking your doctor why he isn't considering that enough evidence.)

But it is incorrect to say that if the genetic test doesn't show DQ2 or DQ8 you can't have celiac disease. Those are just the two most common genes associated with a risk for celiac. There are others suspected (which are not tested for, especially in the US), and there are others associated with "gluten intolerance", which we don't yet know if it eventually leads to celiac disease or not. Honestly, the genetic testing is not all that useful - it certainly is NOT a yes/no answer to whether you have the capability to develop the condition.

His advice of trying the diet and seeing how it goes was excellent. The dietary test, especially along with a dietary challenge of eating gluten again for a short time, used to be the gold standard (possibly still should be :) ) and is a very important test. You said that came up positive for you (you felt better on the diet), and that result means a lot.

Celiac disease, more than many other conditions, is not a condition that you can usually get a simple yes/no answer to via diagnostic/lab tests. It's just not that clear in most people's bodies. The dietary test is usually fairly clear, though. ;)

Archived

This topic is now archived and is closed to further replies.

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. YoshiLuckyJackpotWinner888
      - YoshiLuckyJackpotWinner888 replied to YoshiLuckyJackpotWinner888's topic in Gluten-Free Foods, Products, Shopping & Medications
      2

      Water filters are a potential problem for Celiac Disease

      What non organic or nonorganic molecules from a plastic bottle of water can trigger a reaction that I have only experienced during an auto immune experience? There really should not be any organic molecules in such a bottle. I seen a thread where it was mentioned that his refrigerator water filter tested positive for gluten when he had it checked. If...
    2. Scott Adams
      - Scott Adams replied to Known1's topic in Gluten-Free Foods, Products, Shopping & Medications
      8

      Reverse Osmosis (RO) Water

      It’s understandable to want to be cautious, especially after experiencing symptoms. However, there is currently no scientific evidence that reverse osmosis or standard activated carbon water filters expose people to gluten in amounts that would trigger celiac disease. Gluten is a protein, and if any starch-based binder were used in filter manufacturing, ...
    3. Scott Adams
      - Scott Adams replied to JoJo0611's topic in Gluten-Free Foods, Products, Shopping & Medications
      3

      Yeast extract

      It’s understandable to look for bigger explanations when you’re dealing with complex symptoms, but the current scientific consensus does not support the idea that celiac disease evolved as a defense against Candida. Celiac disease is a well-characterized autoimmune condition triggered specifically by gluten in genetically susceptible individuals (HLA-DQ2...
    4. Scott Adams
      - Scott Adams replied to dsfraley's topic in Post Diagnosis, Recovery & Treatment of Celiac Disease
      14

      9 y/o Son Diagnosed with Celiac Disease; Persistent Symptoms: Does this Sound Familiar?

      It sounds like you’ve put a lot of effort into tracking patterns, and that kind of awareness can be helpful. With celiac disease specifically, though, the only confirmed immune trigger is gluten. Reactions to dairy are common after diagnosis because intestinal damage can temporarily reduce lactase, leading to lactose intolerance — but that’s different from ...
    5. Scott Adams
      - Scott Adams replied to YoshiLuckyJackpotWinner888's topic in Gluten-Free Foods, Products, Shopping & Medications
      2

      Water filters are a potential problem for Celiac Disease

      I completely understand wanting to track down every possible source of exposure after a celiac diagnosis, especially when symptoms are distinct and repeatable. That said, there’s currently no credible evidence that bottled water — including filtered water products like Gatorade water — contains gluten from filter materials. Activated carbon filters are t...
  • Celiac.com Sponsor (A19):

  • Member Statistics

    • Total Members
      133,571
    • Most Online (within 30 mins)
      7,748
    Chanty
    Newest Member
    Chanty
    Joined
  • Celiac.com Sponsor (A20):
  • Celiac.com Sponsor (A22):

  • Forum Statistics

    • Total Topics
      121.6k
    • Total Posts
      1m
  • Celiac.com Sponsor (A21):

  • Upcoming Events

  • Posts

    • YoshiLuckyJackpotWinner888
      Water filters are a potential problem for Celiac Disease

      By YoshiLuckyJackpotWinner888 · Posted

      What non organic or nonorganic molecules from a plastic bottle of water can trigger a reaction that I have only experienced during an auto immune experience? There really should not be any organic molecules in  such a bottle. I seen a thread where it was mentioned that his refrigerator water filter tested positive for gluten when he had it checked. If I went to physician to get checked for other possible triggers from a water bottle, I don’t think that will go anywhere. Again, distilled water containers cause no reactions. I’m not an industry expert, but something is there.  I don’t think that this is a case of microplastics causing this. Too bad we can’t call upon some third party investigation.  
    • Scott Adams
      Reverse Osmosis (RO) Water

      By Scott Adams · Posted

      It’s understandable to want to be cautious, especially after experiencing symptoms. However, there is currently no scientific evidence that reverse osmosis or standard activated carbon water filters expose people to gluten in amounts that would trigger celiac disease. Gluten is a protein, and if any starch-based binder were used in filter manufacturing, it would not pass through RO membranes or remain in finished bottled water at clinically meaningful levels. Plain water — filtered, RO, or bottled — does not contain gluten unless it is intentionally added (which would require labeling). Steam-distilled water is certainly safe, but it is not considered medically necessary for people with celiac disease. If reactions are occurring, it may be helpful to explore other potential explanations with a healthcare provider rather than assuming filter-related gluten exposure.
    • Scott Adams
      Yeast extract

      By Scott Adams · Posted

      It’s understandable to look for bigger explanations when you’re dealing with complex symptoms, but the current scientific consensus does not support the idea that celiac disease evolved as a defense against Candida. Celiac disease is a well-characterized autoimmune condition triggered specifically by gluten in genetically susceptible individuals (HLA-DQ2 or HLA-DQ8). While some laboratory studies have shown that certain Candida proteins (like Hwp1) share limited sequence similarities with gluten or tissue transglutaminase (tTG), that does not mean Candida causes celiac disease or commonly produces false-positive tTG tests in clinical practice. Anti-tTG IgA remains a highly specific and validated marker for celiac when used appropriately (especially alongside total IgA testing and, when indicated, biopsy). IgG antibodies to Saccharomyces cerevisiae (ASCA) are more commonly associated with Crohn’s disease and are not considered diagnostic for celiac. There is ongoing research into microbiome interactions and immune cross-reactivity, but at this time there is no evidence that yeast exposure from foods triggers celiac autoimmunity in people without gluten exposure. If symptoms persist despite a strict gluten-free diet, it’s best to work with a gastroenterologist to rule out other conditions such as IBD, SIBO, non-celiac food intolerances, or refractory celiac disease rather than assuming a fungal-driven mechanism.
    • Scott Adams
      9 y/o Son Diagnosed with Celiac Disease; Persistent Symptoms: Does this Sound Familiar?

      By Scott Adams · Posted

      It sounds like you’ve put a lot of effort into tracking patterns, and that kind of awareness can be helpful. With celiac disease specifically, though, the only confirmed immune trigger is gluten. Reactions to dairy are common after diagnosis because intestinal damage can temporarily reduce lactase, leading to lactose intolerance — but that’s different from casein sensitivity. IgG food panels, including yeast, are generally considered markers of exposure rather than proof of clinical intolerance. Aged cheeses like Irish cheddar are typically gluten-free, though they do contain casein and natural cultures. If symptoms are strong and repeatable, it may be worth working with a gastroenterologist or allergist to sort out true allergies, intolerances, or other GI conditions rather than assuming multiple cross-reactive immune triggers.
    • Scott Adams
      Water filters are a potential problem for Celiac Disease

      By Scott Adams · Posted

      I completely understand wanting to track down every possible source of exposure after a celiac diagnosis, especially when symptoms are distinct and repeatable. That said, there’s currently no credible evidence that bottled water — including filtered water products like Gatorade water — contains gluten from filter materials. Activated carbon filters are typically bound with food-grade binders, and if any starch were used in manufacturing, it would not remain in the finished water at measurable or biologically active levels. Plain water itself does not contain protein, and gluten is a protein. Major beverage companies also have strict allergen control programs, and gluten would need to be declared if intentionally added. If symptoms are occurring consistently after certain products, it may be worth discussing with a physician to explore other potential triggers, but at this time distilled water is not considered medically necessary for people with celiac disease.
×
×
  • 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.