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Genetic Testing?


Carin3

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Carin3 Rookie

Hi, I did post on here about a year ago but am still having trouble convincing myself if I have celiac's or not. Here's the problem. I don't really have any GI problems. Prior to going gluten-free I would poop several times a day(not diarrhea) and since going gluten-free that is down to once a day. Other than that no GI problems (and I never considered that a problem). What led me to a GI doc was chronic anemia not improving with iron pills. I do also have joint pain, tingling and fatigue. I had the endoscopy/colonoscopy done last year and the doctor said it was fine. When I returned for follow up the GI doc said my endoscopy result said: Small bowel mucosa showing minimal loss of the villous structures(mild blunted villi); increased density of intraepithelial lymphocytes; and hyperplasia of the crypts. Marked increase i intraepithelial lymphocytes of superficial villous epithellum identified by CD3 stain (greater than 40/100 epithelial cells). Correlation with clinical findings including celiac sprue serology is suggested. So he then did blood work for celiac (He did a TTG IgA and Iga. My TTG IgA was <3 (and it says <5 is negative). My IgA was 324-and it says normal is 81-463). So my blood works was normal.About the same time I got an IV iron infusion. Haven't had my iron checked recently but a couple months ago it was in normal range (is that from eating gluten-free or from the iron infusion?)I did go off of gluten-free for a couple months in the spring due to a major family crisis but have now been back on it since Sept. I feel a little better gluten-free but nothing significant. So my two questions are do I just need to get over it and accept I have celiac? And would it be benefical for me to get the genetic testing done? If so what company do you recommend? BTW...I am 35 years old and have 3 young kids. Any thoughts would be appreciated. All these forums have helped me so much over the last year!!


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cassP Contributor

1st off- there was an article out of columbia university months ago suggesting that as little as 1 in 6 Celiacs actually have gut symptoms, whereas the others dont have any, but may have other issues

as you know from this forum i assume- people have experienced neuropathy & neurological issues as well as anemia & vitamin deficiencies.

and you probably feel like you need a clear diagnosis to motivate u to be on the diet- especially cause you're not suffering stomach wise... ALTHO- "mild villi blunting" sounds like celiac to me. i, too, needed a dx to really get serious on the diet (and i actually had all the stomach pain)

my tests were a "weak positive", and my docs didnt want to dx me without the biopsies, so they suggested i go gluten free.. but it wasnt enough for me to get serious & break my gluten addiction forever. i ordered a genetic test thru Enterolab. they only test for 9 DQ genes i believe, and only 1 half of the gene. and if you did it thru your doc- they would only test for 2 DQ genes but the complete chain of the genes.

it may not give you any answers- as it only shows your genetic disposition, but im very glad i did mine-

Kay DH Apprentice

Kimball Labs ( Open Original Shared Link )does genetic testing for HLA-DQ2 and HLA-DQ8 celiac "genes", as well as other genetic testing. I have the HLA-DQ8 marker, which about 12& of the population has. Around 30% of the population has HLA-DQ2, and almost 100% of people with celiac have either or both genetic markers. My GI and other symptoms started a year ago, a couple of weeks after getting the flu. I and my family have a lot of indications of celiac, but no known family history. The GI dismissed my dad dying of GI cancer 20 years ago as due to food preparation techniques early last century, and dismissed or assigned all my symptoms as diverticulitis. The 1 biopsy he did was negative, there were no diverticuli, and no diagnosis beyond minor GERD (which is also somewhat common with celiac). By negative celiac panel blood test was a couple of months after going gluten-free. So, I also am not sure I have celiac, but very probably and my life and health is much better going gluten-free. Positive changes started 3 days after going gluten-free last fall, but it took about a year in all. Who knows, if I had been gluten-free before the flu hit, then maybe my symptoms would not have been so bad afterward (GI, mood, lethargy, joints, fog, muscle, rash, etc). ;)

GFinDC Veteran

Here is a thread about silent celiac that might interest you. Silent celiac is when there are no obvious GI symptoms but the person is still having damage from gluten. That might be what is happening in your case?

Silent Celiac - How Do You Know If You Have Been Glutened?

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    • Jula
      Thanks, trents, for both the welcome and the perspective. That is exactly how I'm feeling at this point. The main reason I was considering this particular confirmation is because 2 primary care physicians, one an internist, had said this should be done because they could not be sure based on the information I have that it is celiac and not gluten intolerance. When I asked why that mattered, either way I would have to remain gluten free, the internist especially insisted that she would have to watch for a different set of repercussions on other organs. I could find no proof of this but the questions she raised made me think I should have a definitive diagnosis. But now knowing that it's more than a meal's worth of contamination needed, I don't think I can do it, although  the occasional contamination from eating at a friend's place or restaurant may still happen and if it does and I end up with the rash again, I could get that biopsied and have the same results, it seems. Thanks, again.
    • Kathleen JJ
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      Jula, welcome to the forum. What possible benefit would having an official diagnosis give you at this point in your life? You already have medical test evidence that you are a celiac (antibody tests and genetic testing) and the symptom improvement when you went off gluten confirms what the testing already pointed to. Why on earth would you risk damaging your health by going back on gluten to get further confirmation of what you already have proved? You are now 15 years older than when you first went gluten free and your body will not tolerate the abuse it would back then. Call your GI doc and tell him you have decided to proceed as you are without the gluten challenge. If you want to go forward with the endoscopy to check for upper GI health in general, I can understand that but I certainly would not go back on gluten just to enhance the chance that you will receive additional confirmation of what you already know to be true. Are you having any other upper GI issues that you want to get scoped for? Having said all that, it sounds like you may need to double down on your efforts to eat gluten free and now have the freedom to do that since you aren't any longer caring for your parents.
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