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Postive Blood Test, Negative Biopsy And Genetic
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Hello. This is my first post though I've read a few before registering. We are baffled by my daughter's test results and getting quite frustrated. She's 19, and after getting very ill last semester, her doctor ran a bunch of tests. The only one that came back positive was for Celiac. I don't have the numbers, but apparently it was convincingly high (blood test). She was sent to a gastroenterologist who conducted a biopsy almost immediately due to her impending departure for a summer internship. Results were negative. She had started reducing gluten from her diet by that time but had only been gluten free for less than a week before the biopsy. She improved greatly and rapidly on a gluten free diet with only a few mild flare-ups after dining at restaurants (even though she did her best to avoid cross-contamination). GI wanted to see her again at the end of summer before she left again for college. He said he wanted to run the celiac panel again and also do the genetic testing due to the negative biopsy. We just got the results. The test for the genes was negative, but the tTG was "above normal". The nurse called us with the results and said the doctor said for her to continue on the gluten-free diet, but we are left with many questions. The nurse is going to ask the doctor a few questions for us (he is out of the office today) such as, "What exactly does this mean? What are the consequences of these results? Does she not need to worry about cross-contamination anymore?" I was taken off-guard and that's all I could think of at the time.

We're left wondering now if she doesn't have Celiac after all. Is she just "gluten sensitive", and if so, what does that mean long-term? From the quick bit of research I did after that phone call, I'm left with the impression that even if gluten isn't causing damage to her small intestine, it can still wreak havoc on many other parts of her body/systems. However, much of what we read says that it doesn't. This is all so confusing! By the way, 3 or 4 of my husband's 6 siblings are on self-imposed 'low-gluten' diets. They all say they are "sensitive", but none have been tested. They continue to eat small amounts of obvious gluten and don't know or care about hidden sources or cross-contamination. They all insist they can have some gluten and be ok. One has long believed she is lactose intolerant. The child of that one has thyroid problems. Their father died of esophageal cancer and had been diagnosed with diverticulitis.

Have any of you have any insight on this combination of test results, etc?

Thanks so much in advance!

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Welcome to the board. How many biopsies did the doctor take? Damage can be patchy and get missed especially if only two or three samples were taken. If she had positive blood tests she does need to stay strict on the diet. Positive blood tests trump negative biopsy and genes. Many doctors only test for the 2 most common genes and there are others associated with celiac that are not as well recognized, like the double copy of DQ9 that I have, as one example.

If she is doing well on the diet IMHO she should stay with it. If she is in college then it might be a good idea to get written confirmation from her doctor that she needs to be gluten free so that the college will either let her out of their meal plan or take precautions to keep her safe in the dining hall.

I hope she continues to improve but we can have ups and downs in the beginning. Also those with what they call 'gluten intolerance' need to be just as strict with the diet as those that have been diagnosed celiac. In an ideal world your relatives that have put themselves on a low gluten diet would have been tested first. Now that they are gluten light they would need to go back on gluten for testing. If the gluten free diet was helping them they are not doing their bodies any favors by 'cheating' or being careless.

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What were her positive blood work results? A full celiac panel? If it was only her tTG that was elevated and her level hasn't come down with gluten free diet, it either hasn't been long enough, she is still getting gluten someplace, or the elevated tTG could possibly be due to another autoimmune disease such as thyroid, diabetes, or liver disease. But in the majority of cases I believe tTG is an excellent indicator of celiac disease- did she test positive for endomysial antibody? If so, this is quite specific to celiac disease. She most certainly has it. The biggest thing you said was that the diet resolved her symptoms very quickly- so she is clearly healing.

I would continue her doing what she is doing and re-test again, for some people it can take 6+ months to see those numbers go down. Do you have the results to compare? Always get a copy so you can see the difference. She may need to stick to not eating out, and really trying to avoid cross contamination. And see if those numbers normalize. For some, they need to work harder on the little things to get their numbers normal again.

My 8 year old tested positive for tTG and endomysial antibodies, but a normal biopsy with 6-8 samples taken. I believe the damage was there, was patchy, or she just hasn't had enough time to develop that damage yet, which is great. She is celiac, as am I, and sometimes the diagnosis isn't as clear cut and solid as we'd like. I have struggled with that here lately myself, with her, also getting conflicting advice from drs about her diet.

Question- do YOU eat gluten? If so, maybe get yourself blood tested! A good thing to do, if you have a normal diet. Your relatives likely have celiac disease in their history, not gluten intolerance.

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I agree with everything that Ravenwood said.

The positive blood test definitely trumps negative biopsy as there can be many reasons for a false negative - any time gluten-free before the endo, the experience of the GI with Celiac Disease, the amount of biopsies taken, etc. Another very important test result was that she improved rapidly on a gluten-free diet - the mild flare ups after dining at restaurant confirm that she needs to avoid all gluten. Often the longer one is gluten-free, the more sensitive they become - dining out can become tough. The first several months can be very tough in learning where all hidden gluten is - but it does get much easier with time.

Hoping your daughter continues to improve - good luck to you both :)

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I also want to second what the other posters said.

It would be a really good idea to get copies of your daughter's blood test results, and see for yourself what was tested and what the actual levels were.

If only a TtG was elevated, it could point to something other than celiac. Other autoimmune conditions can cause the elevation. On the other hand, if she improves on a gluten-free diet, that is a huge and obvious answer! She will get better off gluten!

Biopsies can miss damage, and they depend so much on a lot of pairs of eyes. If the doc took too few samples, if the slide was not prepared properly, if the pathologist interprets a "borderline" result as negative, lots of things can be missed. It is especially common to diagnose someone as negative who might be in the earliest stages of celiac, without yet having had it long enough to create damage. You can build a great population of antibodies long before they actually start doing damage.

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Thanks for all the quick responses. She is going to call to try to get copies of her test results so she can compare and have them for her medical records. We were not given numbers, but I got the impression from the pediatrician that the first blood test came back solidly above normal. I was told there was no question. This most recent one was "just slightly above normal" according to the nurse, so I have the impression that the number decreased from the first time, but I could be wrong.

The nurse called back this afternoon to say the doctor came in to the office after all and just said for her to continue on a gluten-free diet "for now", not to worry about cross-contamination, and that he doesn't feel she has Celiac based on these test results. On her first visit, this doctor also said that family members don't need to be tested unless they are having symptoms. Regarding the number of samples during the endoscopy, I'm not sure how many he took. (Also, it is my husband's family, not mine, that has so many members with problems with gluten. My husband did ask his doctor about being tested even though he has had a very low gluten intake for months due to a low-carb diet. His doctor did the test anyway and told dh that it didn't matter that he hadn't been consuming gluten - that if he had Celiac it would come back positive regardless. Not a surprise that the results were negative.)

Unless it was just a coincidence, it seems pretty clear that the gluten-free diet led to a huge improvement in dd's health. She's only had mild stomach cramps the day after eating out a few times plus one big headache, and no reaction after eating at other restaurants that are known in local gluten-free circles as being safe. Her headaches, dizziness, joint pain, brain-fog and excema have pretty much gone away. Her color is good now. Her fingernails had been developing pot marks and they are growing in normal. After a couple of weeks she went from wanting to sleep all the time and barely having the energy to walk up stairs to being strong enough to work a full-time, demanding internship plus extras plus strenous walking and exercise. She was able to live in an apartment over the summer and cooked for herself most of the time, though her roommates (random assignment) were not particularly careful about cross-contamination and cleaning. She will be in an apartment this year and will cook for herself and also with roommates she knows well and who will be more careful, so it won't be difficult to remain gluten-free.

I guess it's just frustrating to be told in the beginning, "she definately has Celiac Disease and you're lucky to get such a quick diagnosis" to having this mix of test results and now being told she doesn't have it after all. I'm also afraid of the long-term consequences if she starts questioning the need to be so strictly gluten-free and giving in to all the gluten temptations around her. The other worry is that if it's not the gluten, then what is/was it??

Thanks again for your responses.

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I had positive blood tests and negative biopsy. I had already been gluten free for about 2 weeks prior to the biopsy.

When my son was diagnosed with Celiac Disease and I started reading about it, I realized I had many of the symptoms. I was tested and my blood test was positive. It became very clear that I had it. When my biopsy came back negative, it didn't really matter to me - I was already gluten free and already feeling better. My doctor diagnosed me with "gluten intolerance".

My son had the genetic test done and was found to be "very low risk" but he has celiac. I didn't even bother to get the genetic test done.

To me, it is just too much of a coincidence for me to NOT have it. Son has it, blood tested positive, symptoms resolved once I was gluten free, it just all fits.

My son's doctor feels the same. She thinks it is silly that my doctor made a big deal about NOT diagnosing me with celiac disease. Of course I have it.

Many reasons why your biopsy would be negative:

damaged spots missed by doctor

not enough damage yet to be found

healing already started due to 2 weeks gluten free

etc. etc. etc.

If she feels better on the gluten free diet, then stick with it. If you need a doctor's note for college, etc. ask her doctor to write one. Gluten Intolerance and Celiac Disease have the same treatment: Gluten Free for life.

Cara

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Hi, 92% of diagnosed celiacs have DQ2 or 8, the official celiac genes.

6% have half a gene, and 2% have different genes.

---on some other forums for gluten sensitivity, they note that several gluten sensitive patients have HLA DQ1, (which are DQ5 and DQ6) and negative biopsies, but they are more sensitive to gluten than ordinary celiacs.

On DQ1: Professor Hadjivassioliou wrote in several papers that about 20% of his gluten ataxia patients have DQ1, the rest have DQ2 or 8.

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We picked up copies of her blood test results today. I find it rather confusing, but I'll type what's there. The tests originally done (when she had very recently still been consuming gluten and was still feeling quite ill)were "Celiac Disease Ab Evaluation":

tTG Ab, IgA: 114 (>25 Positive);

Gliadin Peptide Ab, IgG: 41.2 (>25 Positive);

Gliadin Peptide Ab, IgA: 160.0 (>25 Positive).

Also, her Hemoglobin was a bit below the low end of normal, where it's been for years despite taking iron supplements in addition to a multivitamin.

Next came the endoscopy, which we were told was negative. However, at the time of the endoscopy, he gave us a few photos and pointed to where he thought he saw some very mild scalloping. I have no idea how many samples he took, etc.

Results of the tests which were just done - after approximately 3 months on a gluten-free diet ("Celiac Disease Comprehensive"):

Deamidated Gliadin Abs, IgA: 4 (Negative);

Deamidated Gliadin Abs, IgG: 3 (Negative);

t-Transglutaminase (tTG)IgA: <2 (Negative):

t-Transglutaminase (tTG)IgG: 6 (Weak Positive 6 - 9);

Endomysial Antibody IgA

Immunoglobulin A, Qn, Serum: 192 (Negative).

Genetic testing results for DQ2 and DQ8: Negative.

The GI's nurse said the GI said that based on these recent results, she does not have Celiac Disease but that it would be prudent to stay on a gluten-free diet without worrying about cross-contamination.

We are assuming, however, that unless there was some serious error in the first blood tests, that the dramatic drop in numbers means her strict compliance with a gluten-free diet is working. Does that seem to be a correct assumption? In any case, based on the dramatic improvement in her health and her desire to stay healthy, she has decided she will continue to avoid as much cross-contamination as possible and to remain gluten-free. She is interested in finding a GI who is more of a Celiac specialist in the future if that is possible.

Thanks again for any insight into these test results.

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Get copies of her previous blood tests, procedure report and pathology (biopsy) report. It very likely this GI didn't biopsy the right place or take enough samples. The fact that she had high Celiac blood tests and the gluten-free diet has made them come down cure sounds like Celiac. Ask him why the high numbers if she isn't Celiac. And why would they respond to a gluten-free diet if she isn't.

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We are assuming, however, that unless there was some serious error in the first blood tests, that the dramatic drop in numbers means her strict compliance with a gluten-free diet is working. Does that seem to be a correct assumption? In any case, based on the dramatic improvement in her health and her desire to stay healthy, she has decided she will continue to avoid as much cross-contamination as possible and to remain gluten-free. She is interested in finding a GI who is more of a Celiac specialist in the future if that is possible.

Thanks again for any insight into these test results.

I'd say your assumption is spot on. The dramatic drop in antibodies is proof that her efforts to remain gluten free are working.

I also agree with KarenG that you should get a copy of the endoscopy report so that she has it for her history. While it is beneficial to have a GI that specializes in Celiac Disease - it is far more important that you had the initial positive blood work/improvement while gluten-free compliant. Any primary or GI can run periodic blood work to make sure your daughter is managing her Celiac Disease - minimally annual celiac panel/vitamins/minerals. It really is amazing and one benefit of Celiac Disease that such a serious condition can be treated by diet alone when it is caught early enough.

Glad your daughter has had such improvement - good luck with further improved health :)

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There have been several people here officially diagnosed with celiac who had other genes than DQ2 or 8.

In fact, only 92% have those genes, 6% have half a gene, and 2% have other genes.

And, some are mistyped, they actually have DQ8 (which is harder to type)

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She definitely has celiac. She has 3 positive blood tests, 2 of which are specific JUST for celiac. Many doctors are not well educated about celiac- yours is one of them. The biopsy just missed the damaged areas, that is all. Very common. She needs to be 100% gluten free for life, and be very careful of cross contamination. The rest of you should be tested with a full panel as well, though your hubs needs to resume eating gluten for several months first.

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Oh, and I might add, your GI is a moron. That all of her numbers dropped considerably after being gluten free CONFIRMS the celiac diagnosis, not negates it. Really, the ignorance of those who are supposed to specialize in these things confounds me!

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I was diagnosed celiac with those blood tests. My doctor was confident it was celiac and didn't bother sending me for a biopsy. I have improved greatly on a gluten-free diet so I'm sure he was right.

It sounds like she has celiac; perhaps have her tested for other problems like hypothyroidism, that can give a positive ttg test... if those are negative then it's another celiac confirmation.

best wishes.

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The thyroid tests are the TSH and T4, correct? If so, her ped. tested those and both came back in the normal range, though on the low end of the normal scale. However, I have read that blood tests for thyroid are also frequently innacurate.

The only other odd test result she had was for the Epstein-Barr Viurs Antibody Panel. The ped. didn't know what to make of it.

I have to wonder if the GI doctor was just focusing more on the genetic test results. If he believes that all Celiacs must have one of those two genes, I can see why he might say she doesn't have Celiac. Maybe something was lost in communicating through a 3rd party....

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