Please Help Me Decide Whether To Have Gene Test...

[glutenmommy]

Hi Everyone! Great site. I would really appreciate some input as to what I should do next.

I have long suspected some type of food allergy/intolerance due to the following symptoms: hugely distended abdomen after eating, bloated/puffy all the time, shortness of breath, excessive gas and burping, diarrhea, and a constant rash/itching in my "private" area. (Sorry...TMI ) I finally went to an integrative medicine physician and she suggested trying an elimination diet. I felt like a new person on the diet, and the rash which has been present for years COMPLETELY went away. As soon as I added wheat and gluten back in I got an almost immediate reaction: within 2 hours the rash and intense itching was back (anal area) and I started swelling, bloating, lots of gas, and shortness of breath. Upon investigating this "rash" further, I noticed it is actually small watery blisters that are insanely itchy. I don't know whether or not this could be dermatitis herpetiformis since I've never heard of it occurring around the anus.

Of course, not knowing anything about celiac disease, I didn't realize that I probably just blew my chances for getting an accurate result on an endoscopy/biopsy since I have been gluten free for more than a month now. The doctor did order blood serum tests to rule out other possible food allergies; all came back negative including wheat. She suggested doing a gene test to definitively rule in or out the possibility of celiac. She said if I have the genes, then she would consider it celiac disease since I have all the symptoms.

Should I do the gene test? If it comes back negative, isn't it possible that I could still have a gluten intolerance but not celiac disease (or are they one and the same?) And why would the allergy to wheat be negative -- is it from not consuming gluten for a month, or can you have a gluten intolerance but NOT be allergic to wheat? And do you think the rash might be dermatitis herpetiformis?

So sorry for all the questions but my head is *sPiNnINg* right now!!

[mindyandy420]

I'm not going to be much help (sorry) but has your dr. suggested getting a biopsy done? I think its something that your insurance company would be more likely to cover. Just a suggestion. More experienced people will chime in.

[glutenmommy]

...has your dr. suggested getting a biopsy done?...

Well, since I have been gluten-free for nearly a month I'm not sure how accurate that test would be. I've heard the intestines begin to heal within days of going gluten-free.

[leadmeastray88]

Hi there,

I'm not surprised that your results for Celiac were negative, because you were gluten free for a month already.

Something you should know is that a wheat allergy and Celiac are not the same thing. You can have Celiac and not have a wheat allergy, if that makes any sense to you..allergies cause an IgE reaction, and Celiac causes IgA and/or IgG reactions. As far as I know, you don't need to be consuming wheat to have a wheat allergy test done, but it is the opposite for testing for Celiac disease.

You do have options though. You could either eat a gluten-filled diet again (for atleast a month I'd say at your point) and get your blood re-tested and possibly biopsy.

I don't know much about dermatitis herpetiformus (as well as the unusual location you mentioned) but you can also get that biopsied. If that is positive, then you have Celiac.

You mentioned your symptoms resolved on the diet - if you're not the kind of person who needs a definitive diagnosis to stay on the gluten free diet, then you could always just continue what you're doing and feel better! Many people here are self-diagnosed Celiac or gluten intolerant and are comfortable with that decision.

Good luck! And welcome.

[leadmeastray88]

Sorry, I didn't really answer your original question

Gene testing...

Well, it could help. But your doctor theoretically can't use it to diagnose you. Primarily because the prominent genes associated with Celiac Disease are also the most common ones in the general population - and not every person with those genes have Celiac.

The only thing gene testing will do is tell you which ones you have - nothing more. They aren't diagnostic because they can't tell you if you have Celiac Disease or if you'll ever develop it - just that you're more genetically predisposed.

Furthermore, we have diagnosed Celiacs here that don't carry the "common" genes they look for. So we have a long way to go in terms of genetic testing.

It's really up to you!

[ravenwoodglass]

Furthermore, we have diagnosed Celiacs here that don't carry the "common" genes they look for. So we have a long way to go in terms of genetic testing.

I am one of that group. Gene testing can be part of the diagnostic process but in the US they usually only look for two of the celiac related genes. In other countries there are up to another 7 that are recognized as related to celiac and recently here in the US they have recently started to acknowledge that but it will be a while, I believe, before all doctors start testing for all of them.

The resolution of your symptoms and their reappearance when you reintroduced gluten is IMHO diagnostic. The choice of whether to go back on gluten to get tested is up to you.

If your rash is still active you can see a derm and have the area next to the rash biopsied. A diagnosis of DH is a diagnosis of celiac.

One thing you could consider is testing with Enterolab. They don't diagnose celiac but they can tell you if you are forming antibodies and run a gene panel.

Another thing to consider is that if you have been seeing your doctor regularly and all of a sudden all these health issus clear up they may acknowledge that you are at least gluten intolerant. If a doctors diagnosis is important to you then do go back on gluten and ask for testing. If not then you can just stay gluten free.

[glutenmommy]

Thanks for the replies so far!

A firm diagnosis really isn't that important to me except for the fact that I have children and want to know the likelihood that they could develop this disease IF I have it. And also the fact that I am married to a physician who doesn't take any of this too seriously without firm scientific evidence .

I realize that the gene test isn't definitive; however, the doc said she would consider it evidence enough to diagnose celiac disease if the gene test was positive, due to all of the other symptoms that I have and the fact that my reaction was so obvious when I eliminated and then added gluten back in. She seems to be of the notion that many people spend years chasing down a diagnosis that really just confirms what I already know -- that I can't eat gluten!!!

Ravenwood... good advice to have the rash biopsied. I am able to "activate" the rash at will just by eating gluten. A bowl of gluten-filled pasta smothered with gluten-filled frozen meatballs and I am scratching away within two hours!

What about this theory: It seems to me that one easy way to determine whether this is Celiac vs. just a food intolerance would be to give up gluten for 6 months to a year... if it is just a food intolerance I should be able to reintroduce gluten in a year or so, right? If all the bad symptoms come back I could possibly assume it is celiac disease? I've read from many sources that if it is just a food intolerance, most people can successfully reintroduce the offending food after 6-12 months of avoiding it. I am currently reading The Food Intolerance Bible by Antony Hayes and it has been very helpful so far.

[Mother of Jibril]

...the prominent genes associated with Celiac Disease are also the most common ones in the general population - and not every person with those genes have Celiac.

It's true that not everyone with DQ2.5 or DQ8 is diagnosed with celiac disease, but it does increase your risk, especially if you have double copies. Also, if you take a look at the chart on Wikipedia, Open Original Shared Link you'll see that those are actually not the most common HLA-DQ genes, even among Caucasian Americans (from what I understand, people of Asian or African descent have lower rates of celiac; people of native American descent have higher rates, but often go undiagnosed.)

Most common HLA-DQ genes among Caucasion Americans:

DQ6.2 (14.27%)

DQ2.5 (13.16%) Most common, highest-risk "celiac gene"

DQ2.2 (11.08%) Increased risk for celiac even if you don'thave DQ2.5 or DQ8

DQ7.5 (11.06%) Increased risk for celiac even if you don't have DQ2.5 or DQ8

DQ5.1 (10.85%)

DQ8.1 (9.62%) Also considered a "celiac gene," but not diagnosed as often

DQ7.3 (6.45%)

DQ6.3 (5.66%)

DQ9.2 (3.66%) Increased risk for celiac even if you don't have DQ2.5 or DQ8

DQ6.4 (3.40%)

Only 22.78% of Caucasian Americans have DQ2.5 and/or DQ8. In my experience, it's VERY useful to know your genes. When I found out I have the DQ8 gene I felt like I was really smart to stay on the gluten-free diet Also, the DQ7 genes are associated with thyroid disorders and lupus, which run in my family. I already have Hashimoto's... I'm on the lookout for lupus (SLE). It doesn't mean I'll ever get it, but I do know that my risk is higher. Lupus can take years to diagnose because a lot of people (like me) have symptoms that don't fit into a neat little box.

I haven't done the genetic test with my kids yet, but based on my son's severe intolerance to cow's milk I'm pretty sure he got my DQ7 gene

[Jana315]

Mother of Jibril - Where did you get your testing done & how much was it? I'm thinking of testing, but want to get the most for my money.

Thanks, Jana

[Mother of Jibril]

Mother of Jibril - Where did you get your testing done & how much was it? I'm thinking of testing, but want to get the most for my money.

Thanks, Jana

I did mine through Enterolab, which sends the swabs to the Red Cross.

Open Original Shared Link

The only test I did was the gene test. At the time it was $174 with tax. It took about a month from the time I ordered it to get the results. You don't need a doctor's permission, but your insurance probably won't pay without it.

ps - Enterolab is the cheapest that I know of where you can order the test yourself, but there are other labs out there (Prometheus, Quest, Kimball, etc...). Sometimes their prices are higher because they also test for the alpha genes... which is nice, but you can get a lot of information just from the betas.

[neesee]

Open Original Shared Link

Maybe this can help you decide.

[glutenmommy]

Neesee... thank you for that very informative article.

[ravenwoodglass]

Please be sure to check this out also. The US is finally waking up to the fact that it is not just those two genes mentioned in the NIH article that are associated with the development of celiac disease.

Open Original Shared Link

[Lisa]

https://www.celiac.com/articles/21567/1/Ten...ting/Page1.html

Laboratories in the U.S. that are known to offer complete alpha and beta subunit genetic testing include Kimball Genetics, Prometheus, and LabCorp. Bonfils, Quest and Enterolab only test for the beta subunit portions and therefore their test can miss part of a minor alpha subunit that carries a risk of Celiac disease. A negative DQ2 and DQ8 report from these labs may not necessarily be truly negative for the risk of Celiac disease.

As noted previously, gene testing for Celiac Disease can only indicate an estimated percentile for risk. It may be a piece of the puzzle, but it cannot determine whether you will or have Celiac Disease.

[ang1e0251]

What about this theory: It seems to me that one easy way to determine whether this is Celiac vs. just a food intolerance would be to give up gluten for 6 months to a year... if it is just a food intolerance I should be able to reintroduce gluten in a year or so, right? If all the bad symptoms come back I could possibly assume it is celiac disease? I've read from many sources that if it is just a food intolerance, most people can successfully reintroduce the offending food after 6-12 months of avoiding it. I am currently reading The Food Intolerance Bible by Antony Hayes and it has been very helpful so far.

No, no, no. Gluten isn't a thing you can play around with that way. Stopping and starting is very bad for you. Read this that was posted on another thread.

Diagnosing Celiac Disease - Intestinal Biopsy with villous atrophy no longer the

[lizard00]

My doc pretty much did the same thing that your doc wants to do. I was 6 months gluten-free before I saw him, and I had made such progress in that 6 months that I was not willing to go back to eating gluten. We settled on the genetic panel, so he could see what my risk was and go from there.

He treats me as a celiac, refers to me as a celiac... in his and my mind I am celiac, because I do carry double copies of the gene (dq 2.5), my symptoms have resolved with a gluten-free diet, and I have no other health problems.

I have had not any trouble with family or friends and the diet, but I wanted to know also for my children's sake. So, I know that my children have at least one copy of the gene... it doesn't make them have celiac but we know the risk is there.

[glutenmommy]

Dr. Petersen... thank you so much for your very informative reply. What a goldmine of information! I have never heard of IEL nor even stumbled upon it in my COUNTLESS hours of reading about gluten intolerance. I am married to a physician and he tells me the same thing you said -- that it takes as many as fifteen years for research to finally become assimilated into the medical profession (and by that time there's already plenty of new info!) Interestingly, my hubby is a migraine specialist and he is just now (after listening to me for the past several years harp about gluten intolerance) starting to grasp the notion that gluten may be a big problem for many individuals.

I plan on ordering your book and reading it cover to cover.

I'm still wondering if it's worth trying to biopsy this rash in my "private" area. It certainly doesn't look like textbook dermatitis herpetiformis, but it does appear EVERY time I eat gluten. And it is absolutely miserable -- insanely itchy and very painful to the touch.

Thanks to all who have replied so far

[ravenwoodglass]

Dr. Petersen... thank you so much for your very informative reply. What a goldmine of information! I have never heard of IEL nor even stumbled upon it in my COUNTLESS hours of reading about gluten intolerance. I am married to a physician and he tells me the same thing you said -- that it takes as many as fifteen years for research to finally become assimilated into the medical profession (and by that time there's already plenty of new info!) Interestingly, my hubby is a migraine specialist and he is just now (after listening to me for the past several years harp about gluten intolerance) starting to grasp the notion that gluten may be a big problem for many individuals.

I plan on ordering your book and reading it cover to cover.

I'm still wondering if it's worth trying to biopsy this rash in my "private" area. It certainly doesn't look like textbook dermatitis herpetiformis, but it does appear EVERY time I eat gluten. And it is absolutely miserable -- insanely itchy and very painful to the touch.

Thanks to all who have replied so far

I hope your husband does listen to you, he could most likely help a lot of his patients. Any of his patients that also have IBS or other health issues in additon to the migraines should be tested for celiac at the very least. I have never had another migraine since I went gluten free, ever, unless I was glutened and I am not alone in that.

If you do decide to have the rash checked to see if it is DH make sure they biopsy next to the rash not the rash itself. You may find this link of DH helpful-

Open Original Shared Link

[darlindeb25]

I realize that the gene test isn't definitive; however, the doc said she would consider it evidence enough to diagnose celiac disease if the gene test was positive, due to all of the other symptoms that I have and the fact that my reaction was so obvious when I eliminated and then added gluten back in.

There are those celiac's who were diagnosed by villi damage, yet, I think we would all be surprised at how many more were diagnosed just as your doctor is telling you.

I think it's a good idea to know which genes you have. I have double DQ1 genes, so I know each of my kids have at least one DQ1 gene. The fact that I have 2 DQ1 genes, means each of my parents have at least 1 DQ1 gene. My sister has never been gene tested, and I would love to know which genes she has, she was diagnosed celiac 9 years ago.