Genetic Testing...?

[Malmo 0]

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?

[mushroom 1,209]

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 716]

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 463]

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 314]

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.