genetic test results

Mar 20, 2013 17:34

I just received the results of my genetic tests which came back positive for having a genetic predisposition to celiac disease. The doctor said this does not mean that I have celiac disease for sure, but that I could. My blood antibody tests (when consuming gluten) were previously negative, and my own results to going on a gluten-free diet were inconclusive, meaning I still have some symptoms.

Currently, I have been gluten-free for a while, but I'm entertaining the idea of going ahead and doing a full-on gluten challenge and then doing an intestinal biopsy (the doctor said it was up to me if I wanted to or not). There's always the possibility that the gluten challenge itself will make me a lot more sick and then I'll know all I need to know, but I've tried this before a couple of times in the past just to test my symptoms, and still wasn't sure. Because I still have doubt, if a firm diagnosis were reached I think it might be helpful. If the biopsy results are positive, then I will know *for sure* that I have celiac disease and should remain 100% gluten free, and that any remaining symptoms would be due to another issue.

But, what if I do the gluten challenge and the biopsy results are negative? Do you think the genetic test alone is evidence enough that I have celiac disease anyway (and thus should just skip the biopsy part entirely)? Or if the biopsies are negative should I feel relatively assured that I don't have active celiac disease? Even if it did come out negative, I wouldn't necessarily go out and start consuming a bunch of gluten, because the genetic test would make me forever paranoid. But, I probably would feel like I didn't have to be as worried as much about things like cross-contamination or small amounts of hidden gluten (for example, if eating in a restaurant), which alone would be worth it for me. Do you think this would be a logical conclusion based on the potential biopsy outcome, or because the genetic test is positive should I simply consider that I 100% have full-on celiac disease no matter what, and that any biopsy results would be useless either way?

Thanks
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