Need Help - Positive Blood Work, Negative Gene Test

[gfwarrior]

Can anyone share some insight on how I should characterize myself? My blood tests had come back positive (all extremely high) showing gluten intolerance and suggesting Celiac Disease. My GI did a biopsy which showed borderline Celiac (as he called it)... some inflamed areas, other areas were fine. I decided to get the gene test done because I have 3 small boys and wanted to know if I carried the gene so I could have them tested as well. It turns out, my genetic test came back with a very low probability. So... does that rule out Celiac? If so, does it make sense to say I have a gluten intolerance? I have had such a positive response to eating gluten free (after about 3 weeks, I actually feel normal!) And what is the main difference between Celiac and gluten intolerance?

Any advice would be greatly appreciated!

[Lisa]

Can anyone share some insight on how I should characterize myself? My blood tests had come back positive (all extremely high) showing gluten intolerance and suggesting Celiac Disease. My GI did a biopsy which showed borderline Celiac (as he called it)... some inflamed areas, other areas were fine. I decided to get the gene test done because I have 3 small boys and wanted to know if I carried the gene so I could have them tested as well. It turns out, my genetic test came back with a very low probability. So... does that rule out Celiac? If so, does it make sense to say I have a gluten intolerance? I have had such a positive response to eating gluten free (after about 3 weeks, I actually feel normal!) And what is the main difference between Celiac and gluten intolerance?

Any advice would be greatly appreciated!

Welcome!

If you had a positive blood work, in addition to your biopsy result, your positive dietary response, you have Celiac. Any ONE of these things can diagnose for Celiac. There is no such thing as borderline. Ya do, or ya don't.

There is a 20% change that you will pass on the Celiac gene to your first degree relatives.

My best advise is to read, read, read from this site. It's the best around. And feel free to ask any question. That's why we are here.

[gfwarrior]

The thing is, my gene test came back as showing I don't have the gene indicators for Celiac. It was very low. So if my bloodwork is positive and I don't have the genes, does that mean I just have gluten intolerance and not Celiac?

[Rachel--24]

The thing is, my gene test came back as showing I don't have the gene indicators for Celiac. It was very low. So if my bloodwork is positive and I don't have the genes, does that mean I just have gluten intolerance and not Celiac?

If all of your bloodwork was positive, biopsy indicated Celiac and you've had a positive response to diet I would say that you DO have Celiac.

As far as bloodwork....some are more specific to Celiac than others. You said that ALL results were extremely high. That would indicate Celiac Disease.

I dont know what "very low" means with regards to the gene test. I would say that even if the probability of Celiac is low...it doesnt rule it out completely.

Gene tests cannot rule Celiac in or out 100%. In my opinion its a useful test when all other tests are not conclusive or when the diet is not helping......however, in your case I would not question the diagnosis when everything else is positive (including the response to diet).

There is a very small percentage of diagnosed Celiac's who do not carry either of the main Celiac genes.

[ShayFL]

A small percentage (3% I believe) of Celiacs DO NOT have the 2 U.S. recognized genes. Someone on this board had a NEG gene test, but retested and they found it the second time (DQ8) the more rare one. So the genetic tests may not be 100% accurate. Also, other countries in Europe recognize 7 genes for Celiac. As always the U.S. is way behind.

If it were me, I would consider myself Celiac and that is what I would tell everyone. And I would eat gluten-free for the REST OF MY LIFE.

IMO

[mymagicalchild]

If it were me, I would consider myself Celiac and that is what I would tell everyone. And I would eat gluten-free for the REST OF MY LIFE.

IMO

I think the advice of ShayFL is absolutely correct BECAUSE:

If you eat gluten-free and YOU ARE NOT celiac, you will not be harmed. The error doesn't matter to your health.

If you do not eat gluten-free and YOU ARE celiac, you will be harmed. The error will be ruinous to your health.

I'd also add: the best doctor in the world is your own instinct about your body. Paying attention is the challenge. Sometimes our symptoms are so severe, we have no choice but to pay attention. But they usually have become that severe because we've been ignoring what our bodies have been telling us, maybe treating symptoms rather than cause.

IF eating a gluten-free diet makes you feel better, your instinct doctor, which led you to eliminate gluten, has made its diagnosis! Consider that doctor a board-certified specialist-in-you and don't easily accept any other diagnosis.

[leadmeastray88]

Positive results= Positive results

A 'classic' Celiac diagnosis is based on villi damage. If you have it, even if it is spotty, you have Celiac disease. No two ways around it.

Like Rachel said, gene testing is useful when other testing is negative and there is still doubt.

You shouldn't have ANY doubt when your bloodwork AND biopsy came out positive.

Welcome to the club

[Lisa]

This is an interesting article on genes and ofsprings:

https://www.celiac.com/articles/21560/1/Gen...ters/Page1.html

[aikiducky]

Look at it this way: your gene test coming back with a low probability is a bit like winning the lottery. If you already have the money in your bank account, you don't say "OMG, the chances of winning the lottery are a million to one, that's really low probability. I can't have won the lottery!". The positive biopsy and blood test are like money in the bank, they prove that you have celiac. The gene test just tells you that most people with your genes might not develop celiac, unfortunately you did.

Happy to hear the diet is already working for you.

Pauliina

[darlindeb25]

There is a very small percentage of diagnosed Celiac's who do not carry either of the main Celiac genes.

I think, with time, we will find this statement is incorrect. I think it's time to do a study of diagnosed celiac's who never had a gene test, and actually find out how many have genes suspected of never causing celiac disease.

I have double DQ1 genes, which I found out about in July, I have been gluten-free for 8 yrs. My sister is a diagnosed celiac, who has never been gene tested, yet odds are, she has the same genes as me. Our dad was diagnosed as gluten intolerant at age 69, because he doesn't have the "proper" genes. Our mom eats pretty much gluten-free with our dad, but she doesn't have a problem with gluten, and she would have to have a DQ2 or 8 gene for my sister to have been diagnosed celiac, according to the currant understanding of genes.

As I said, in time I think we will fine this statemnt will change.

[ravenwoodglass]

I strongly agree with the previous poster. Gene testing is in it's infancy and there is a great deal that is not known about celiac genes. I am a firmily diagnosed celiac. I only got gene testing done because my DD who had been diagnosed by blood and biopsy had her gene panels done and got retested (after being gluten-free for a couple years). The specialist she went to told her there was no way she could ever become a celiac because she didn't have DQ2 or DQ8. I ordered the gene panel as soon as I found out. Turns out the gene I carry is a rare one in the US, if fact I have only seen one other DQ9 on the board in all my years here. Turns out it is a celiac gene, recognized in other countries. Here it is considered a gene for rheumatoid arthritis. Interestingly my arthritis was in total remission within 6 months on the diet. If doctors had done gene testing on me before I was diagnosed with celiac I would have been deemed to have RA and no furthur search would have been done, after all a good percentage of RA patients have stomach issues. I would either still be deteriorating or I would be dead.

To make a long story short I also think all celiacs should have gene testing done on a routine basis after diagnosis. A lot could be learned. But I would just be happy at this point if they stopped useing gene testing as the be all and end all of diagnosis. It would also be nice if doctors kept up with research as most in the US are ignorant of those other 7 genes.

[Rachel--24]

Personally, I believe that they do have a pretty good understanding of which genes are primarily involved in Celiac Disease. That would be DQ2 and DQ8 (which are found in the vast majority of diagnosed Celiacs).

As for the other genes....well we do know that plenty of people have problems with gluten WITHOUT actually having Celiac Disease.

I see people getting a diagnosis based on positive response to diet, or maybe just one elevated antibody (IgG which is the least specific for Celiac)....and they might not actually have Celiac.

For example, I had positive Enterolab results (including tTG and malabsorption) indicating a gluten intolerance. I also had many "classic" Celiac symptoms. However, I did not test positive for Celiac in labwork that is SPECIFIC for Celiac Disease....nor did I show any sign of Celiac in my biopsy. I also do not carry either of the main genes.

If I chose to call myself Celiac...I could easily do so. If I wanted a Dr. to give me that diagnosis I could find one that would do it. However, it doesnt really make it TRUE.

I think that if I were to tell people that I do have Celiac (simply because I initially felt better on the diet) I might be adding to some of the confusion as far as which genes are actually involved in the disease.

I have DQ1 and DQ3....they are not recognized as Celiac genes and I did not show evidence of Celiac in bloodwork/biopsy. I continued to investigate my health problems and found that my food intolerances are caused by other issues.....totally unrelated to Celiac Disease. Yes, I feel better eliminating the foods that cause me problems....however, having a problem with gluten isnt an automatic diagnosis of Celiac Disease.

In my opinion if we included ALL people who react to gluten and are self-diagnosed or diagnosed based on positive response to diet (when all tests were negative) then yes.....we will find that there is a long list of genes involved. It doesnt make it Celiac Disease though.

I think it's time to do a study of diagnosed celiac's who never had a gene test, and actually find out how many have genes suspected of never causing celiac disease.

I think if this were to be done...we would still find that DQ2 and DQ8 are the two main genes involved in the disease.

Of course to be accurate you would have to ONLY gene test those who were diagnosed with positive bloodwork (that is specific to Celiac Disease) and/or positive biopsy.

You cant just take any person with a diagnosis and include them in the study.

There would have to be a firm diagnosis based on evidence of the disease (positive bloodwork/biopsy). This would basically exclude myself, you (Darlindeb), Ravenwoodglass and many others from the study. We would not be eligible because we never tested positive for Celiac Disease.....therefore the fact that we dont carry the genes means absolutely nothing in the study.

The original poster (gfwarrior) could be involved in the study as she actually does test positive for Celiac Disease. I'm not sure what genes she has....but it seems like she is saying that that she doesnt have DQ2 or DQ8.

As another poster mentioned....sometimes there are errors in the gene testing. So we cant even be 100% certain that gfwarrior doesnt have one of the main genes.

[gfwarrior]

I'm just checking in and your posts are all so helpful! And it seems I started a somewhat deep discussion. I guess I'm just a strange case... positive bloodwork, negative gene test. Either way, I definitely have an intolerance for gluten. What's so strange is that after 7 years of never feeling well, strange flare-ups of eczema, horrible joint pain, infertility (but through IVF brought me my twins and 3rd boy!!), not to mention all the stomach problems, I feel so good and have actually been sleeping. I've been gluten-free for about a month and still have days where I don't feel 100% great, but for the most part, I didn't know I could feel so well.

Thank you all for your posts and advice. For the first time, I don't feel crazy... I feel healthy!!

And I like the idea of doing more gene tests after being diagnosed. I wonder if I'm just a rare case who doesn't have the genes OR I have a gene that is not yet recognized for Celiac.

[Fiddle-Faddle]

I agree with darlindeb and ravenwoodglass.

Apparently, in Europe and Asia, 7 genes are recognized as being linked with celiac, not 2.

Also, I have heard from Asian friends that in Asia, celiac is just starting to be diagnosed in the big cities, and I have read that Asians in Europe and North America have a stronger possibility of being diagnosed with celiac the more generations they have been in those countries--in spite of the fact that US doctors claim that Asians don't carry celiac genes.

My conclusion: the research is yet too limited, and understanding of celiac is too narrow.

I would say that it doesn't matter if you are celiac or gluten-intolerant; as long as there are no other health issues going on, your answer is clear--gluten is the problem, and in that case, gluten intolerance is simply early-stage celiac.

I'm glad you're feeling so much better!

[ravenwoodglass]

There would have to be a firm diagnosis based on evidence of the disease (positive bloodwork/biopsy). This would basically exclude myself, you (Darlindeb), Ravenwoodglass and many others from the study. We would not be eligible because we never tested positive for Celiac Disease.....therefore the fact that we dont carry the genes means absolutely nothing in the study.

Actually Rachel as I have said before I am firmily diagnosed. By an MD, in fact more than one. A diagnosis of DH is a firm diagnosis and I have had DH since childhood. I also have a child that would satisfy your criteria for blood and biopsy diagnosed and another who was definately diagnosed through blood work. I am not selfdiagnosed. I may be an oddball, my celiac gene is a rare one in the caucasian population in the US but I am none the less....a celiac.

[ravenwoodglass]

Wanted to add the my previous post now that I have a minute but the edit button is gone now so I will expand here.

One of the reasons why I would like to see gene testing done routinely on both MD diagnosed celiacs and folks that are 'just' gluten intolerant or self diagnosed is that there may be common patterns that show up. Celiac is also much more than just the gut disease that many think of it as. It is starting to be recognized that the neuro effects can be very much a part of the disease and that in some the GI effects may not show up till many years later, if at all. We also see this in folks that only have DH. Some will never develop the gut symptoms but they are still classed as a celiac.

There is a recognized subset of celiacs who do not show up on blood testing, for some it is because they are IGA deficient. For others they don't really know why. Perhaps they haven't found the right test yet.

With the difficulty with learning that can be present with some celiacs it is important that we get all the tools we can to diagnose it as early as possible. Gene testing of everyone that has been confirmed to have a reactionary issue with gluten could be helpful in establishing a pattern that could be used to help confirm in children before the other than gut related issues become apparent.

As we know testing for many diseases is less than perfect. We see it with Lyme, we see it with Celiac and with many other disorders. Gene and blood testing can be useful but with some disorders they can not absolutely rule things out. If doctors and patients think that not showing up on blood work or in a gene panel that only looks for the '2 main genes' is a conclusive exclusion of celiac many years can be lost before the answer is found.

[Jestgar]

Wanted to add the my previous post now that I have a minute but the edit button is gone now so I will expand here.

One of the reasons why I would like to see gene testing done routinely on both MD diagnosed celiacs and folks that are 'just' gluten intolerant or self diagnosed is that there may be common patterns that show up. Celiac is also much more than just the gut disease that many think of it as. It is starting to be recognized that the neuro effects can be very much a part of the disease and that in some the GI effects may not show up till many years later, if at all. We also see this in folks that only have DH. Some will never develop the gut symptoms but they are still classed as a celiac.

There is a recognized subset of celiacs who do not show up on blood testing, for some it is because they are IGA deficient. For others they don't really know why. Perhaps they haven't found the right test yet.

With the difficulty with learning that can be present with some celiacs it is important that we get all the tools we can to diagnose it as early as possible. Gene testing of everyone that has been confirmed to have a reactionary issue with gluten could be helpful in establishing a pattern that could be used to help confirm in children before the other than gut related issues become apparent.

As we know testing for many diseases is less than perfect. We see it with Lyme, we see it with Celiac and with many other disorders. Gene and blood testing can be useful but with some disorders they can not absolutely rule things out. If doctors and patients think that not showing up on blood work or in a gene panel that only looks for the '2 main genes' is a conclusive exclusion of celiac many years can be lost before the answer is found.

What she said.

I study genes for a living and what I know for certain about genetic testing is that it's very uninformative. We use words like 'associated' NOT 'causative'.

Just because you don't have the known genes that are associated with intestinal damage does not mean that you don't have other, not yet identified genes.

[Mtndog]

The thing is, my gene test came back as showing I don't have the gene indicators for Celiac. It was very low. So if my bloodwork is positive and I don't have the genes, does that mean I just have gluten intolerance and not Celiac?

I wanted to pipe in here with my test results- I had slightly elevated (borderline positive) bloodwork, a positive response to the diet and the DQ8 gene. I remember coming to this site for help and remember being told that "borderline" positive bloodwork was like a pregnancy test- you're either pregnant or you're not. Since you had such high results with your bloodwork, I would say you DO have celiac (if I remember correctly, it's much more common to have a false negative than a false positive).

In addition, many people have the genes for celiac but do not develop it. All genes "prove" is a predisposition. And liske Jestgar said (and my primary told me over and over when my biopsy came bacck negative), no test is 100% correct 100% of the tome.

I too have other issues (Lyme disease) but I know without a doubt that going gluten-free kept me running for several years before the Lyme "got me". I also know without a doubt that I cannot eat gluten and never will. Despite borderline blood and a negative biopsy, I am much healthier without gluten in my life.

Welcome to the site!

[Rachel--24]

Actually Rachel as I have said before I am firmily diagnosed. By an MD, in fact more than one. A diagnosis of DH is a firm diagnosis and I have had DH since childhood. I also have a child that would satisfy your criteria for blood and biopsy diagnosed and another who was definately diagnosed through blood work. I am not selfdiagnosed. I may be an oddball, my celiac gene is a rare one in the caucasian population in the US but I am none the less....a celiac.

Positive bloodwork and/or biopsy is actually not MY criteria for a diagnosis of Celiac Disease.....its the medical community's criteria.....is it not?

As far as I know most diseases have some "criteria" in order to make the diagnosis and Celiac is no different. We can self diagnose any condition we want....but what I'm saying is that in order for a study of genes in Celiac Disease....there sort of HAS to be some clear evidence of the disease to begin with (wouldn't you agree?).

I'm not attacking your diagnosis (or anyone else's).....I simply stated that we would not qualify for a study like the one that Darlindeb would like to see. I would be completely interested in the results of such a study.....but at the same time.....if there were no "criteria" for the study...what good would it be?? The results would be meaningless.

I personally would not be interested in results of genetic testing for EVERY person who reacts to gluten....because as we know there are MANY reasons (other than Celiac) for this to occur. The results wouldnt tell me anything.

Sorry if I upset you by including you in my post. I've been here 3 years and I'm pretty sure you were here when I joined. I had always understood it that you never tested positive for Celiac in any of the tests but were diagnosed by an allergist based on a positive response to the diet?? Based on that info. I made the assumption that you would not be eligible for the kind of study that was brought up. Typically, they are pretty strict about that sort of thing when they do studies of that nature.

I definately think that alot of people have problems with gluten but I dont agree that its all Celiac Disease....and when all the tests are negative and a person doesnt have the genes....well I dont think it makes sense to say that "said genes" are "unrecognized Celiac genes". Of course I do believe that there truelly are other genes involved....but still....shouldnt these people test positive for the disease (like gfwarrior obviously has)??

I will use Autism as an example because pretty much everyone here is aware that the gluten-free/casein free diet does WONDERS for these kids!! It truelly does. However, the vast majority do NOT have Celiac Disease (and many of them are tested). They have other conditions which have caused them to develop problems with gluten, casein (as well as other foods).

Many of them have dramatic improvement after eliminating these foods. Does this mean we should run gene tests on all of them and call ALL of these genes Celiac genes?? Well...I suppose we could....but it still doesnt make it TRUE.

The gluten can be doing alot of damage (as can casein and other problematic foods) but we cant call all of it Celiac Disease.

Lyme Disease can cause "arthritis" that is identical to rheumatoid arthritis.....and we can call it that since the symtpoms are the same....but in reality the problem is caused by the Lyme. Lyme can cause UBO's on an MRI, so can Celiac, so can MS......I'm sure other things can cause it as well.....but everytime we see something like this should we call it Celiac??

Personally, I think the bloodtests and biopsy serve a purpose....and genetic testing can support that (in most cases).

[Mtndog]

Dear gfwarrior- Please excuse that sometimes threads, and posters, start off on one subject and get off-topic pretty fast. Sometimes you have to weed through it all, but hang around. There is a lot of good info here. Welcome again!

[Rachel--24]

Yes, as Mtndog mentioned threads do sometimes get off topic fast!

As far as I know this topic started out asking about Celiac genes (or unknown genes) in relationship to positive test results. As far as I know its still on topic......although not everyone may take interest in the discussion.

I apologize to gfwarrior for responding to the post about newer studies (to identify genes in diagnosed Celiacs).....if that was not of interest to her in this particular thread.

and yes, welcome to the board! I'm sure you will find it to be very informative (even if we are not always in agrreement). There is plenty to learn here.

[gfwarrior]

It's so sad the United States doesn't know more about Celiac. So many people are suffering and have no idea why. All these misdiagnoses are scary! My 7 years of being misdiagnosed is nothing compared to what so many of you in this forum have been through. Thankfully, we are all on our way to recovery and feeling better. I want to be around for a long time and have the energy for my 3 little boys! Thank you all again for your support!

And I don't think this post went off topic at all. Everyone's input has been so helpful and informative! No apologies... I look forward to hearing more!

[Mtndog]

It's so sad the United States doesn't know more about Celiac. So many people are suffering and have no idea why. All these misdiagnoses are scary! My 7 years of being misdiagnosed is nothing compared to what so many of you in this forum have been through. Thankfully, we are all on our way to recovery and feeling better. I want to be around for a long time and have the energy for my 3 little boys! Thank you all again for your support!

And I don't think this post went off topic at all. Everyone's input has been so helpful and informative! No apologies... I look forward to hearing more!

it is frightening that it is so difficult to get a diagnosis- but so glad you and yours are feeling better!!!!

[Nancym]

The thing is, my gene test came back as showing I don't have the gene indicators for Celiac. It was very low. So if my bloodwork is positive and I don't have the genes, does that mean I just have gluten intolerance and not Celiac?

No, it doesn't mean you don't have celiac. There's some percentage of celiacs that don't have either of the genes currently recognized. It probably indicates they haven't figured out the entire genetics of celiac disease yet.