Help With Information About Testing

[tinkerbellmamaof4]

My daughter had an initial blood test, and it showed positive for celiac. I don't have specifics, we have an appointment to discuss everything with her doctor. We have cut ALL gluten from her diet as of today. Her pediatrician mentioned that the only way to 100% confirm celiacs disease is to do an intestinal biopsy. Otherwise we'll just treat it as a gluten intolerance.

After doing some research on Celiacs, I'd prefer to have a definite diagnosis as soon as possible. I heard that there is a test that measures genetic markers to determine if she has the genetic markers for celiacs. If she does, then at that point we can do the biopsy.

My question is, where do we go from here? I'm not sure our pediatrician is super knowledgeable about where to go next, and I really have no idea. Is the genetic markers test accurate?

Also, what are the chances of our other children having the same problem? Should we just get everyone tested? I really appreciate any assistance.

Oh, my daughter will be 4 next month, and what lead us to ask for the original test was behavior related.

~Morgan

[mushroom]

Hello and welcome to the forum.

First things first. If you have any intention or there is any possibility of having your daughter have an endoscopy with biopsy, you should keep her eating gluten until after the test has been completed. There is no way of knowing how long it will take to have that test scheduled, and it may well be (since healing begins in the absence of gluten) that sufficient healing may have taken place to negate the test.

The genetic test shows whether or not your daughter possesses one of the recognized celiac genes that predisposes toward the development of celiac disease. It is not a diagnostic test in and of itself. It merely shows that if she possesses one of the recognized genes and a trigger occurs which activates that predisposition, she will develop celiac disease. Many people possess the gene and do not develop the disease because no trigger occurs. However, there are new genes being discovered that also predispose to celiac disease/gluten intolerance, and these genes are not currently tested for by most laboratories. Therefore, it is an interesting test, but not particularly predictive. I would suggest that if you want a definitive diagnosis you proceed with the biopsy regardless of the genetic results.

However, there is a caveat here, and that is that there is at least a 20% false negative rate on the biopsy test. Either the damage has not progressed to the stage that it is measurable by biopsy or the doctor failed to biopsy the areas where the damage is (there is over 30 feet of small intestine, most of which cannot be reached, and also the damage is often patchy so the biopsy procedure can be a hit or miss proposition.

I know that this is not what you wanted to hear - the whole process of diagnosing celiac disease is very frustrating. But even IF her blood tests, and her biopsy, were both negative, and she did not possess one of the two recognized celiac genes, that would not mean that she was not gluten intolerant and she should not avoid it. So keep her eating gluten until you have concluded her testing and then, regardless of the findings, do a good three-month trial of the gluten free diet and see how she responds.

I hope you get some definitive answers, but if not I do hope she responds to the diet.

As for the rest of the family, it is recommended that if one family member is diagnosed as celiac that they all should be tested. If your daughter has inherited a celiac/gluten intolerance gene, it came from you or her father, and her siblings are just as likely to carry the gene too and therefore develop celiac/gluten intolerance. They may or may not exhibit any of the classic celiac symptoms, but it is advisable to test them every 3-5 years. If your daughter's genetic test was positive you could run the genetic testing on the family.

I hope this answer has been of some help to you. Let us know how things progress.

[cassP]

ya, everything she said above....

i would also add- if your daughter actually had 2 Celiac Genes or 2 of the other DQ genes which all carry the possibility of celiac or gluten intolerance- then actually both you & her father would be carrying genes and should be tested.

plus- if u do the gene test thru your doctor- they only test for DQ2 & DQ8 (the "classic" celiac genes)... there are still like 25 DQ genes out there that they will not test for...

it's up to you how you want to proceed... many doctors will not diagnose someone without that intestinal biopsy.. it depends on what you guys need to actually adhere to the diet. does she have any skin rashes???