Un-Diagnosed

[JDilly]

Ten years ago I was diagnosed with celiac disease through positive blood work. No endoscopy. Both mine and my sister's antibodies were off the charts. I've been completely gluten free ever since. My mother went for a gene test and didn't carry either, so I went myself. Negative for DQ2 and DQ8... Am I un-diagnosed? I feel pretty lost. Do I have an intolerance now, or allergy?

[Skylark]

If the positive blood work was anti-EMA or anti-TTG (the autoimmune tests) and you feel much better off gluten you are almost certainly celiac. Celiac tests do not overlap with wheat allergy tests at all. They're completely different antibodies. I bet you had a lot of celiac symptoms too if they caught it ten years ago.

About 1% of celiacs do not have DQ2 or DQ8 so we haven't got all the genes identified yet. Whatever that mystery gene is, it's clearly in your family!

[JDilly]

If the positive blood work was anti-EMA or anti-TTG (the autoimmune tests) and you feel much better off gluten you are almost certainly celiac. Celiac tests do not overlap with wheat allergy tests at all. They're completely different antibodies. I bet you had a lot of celiac symptoms too if they caught it ten years ago.

About 1% of celiacs do not have DQ2 or DQ8 so we haven't got all the genes identified yet. Whatever that mystery gene is, it's clearly in your family!

Well, my mother saw us getting sick so fought with the doctor to test us way back then. It was the TTG, and I don't have the issues or lactose intolerance anymore. My doctor thinks it was either a false positive, or a gluten intolerance mimicking the positive on the test, or the phantom gene. But she is pro me staying gluten free, because the current research is still new. I think I should go to Europe, they seem to have a more advanced gene test over there. Vacation time! lol.

[Skylark]

Your doctor is only repeating the incorrect information she was given that all celaics MUST be DQ2 or DQ8. Open Original Shared Link is a big genetic study where they found celiacs without DQ2 or DQ8.

Gluten intolerance doesn't cause positive TTG. That is an autoimmune antibody. It comes up in some other autoimmune diseases but if it went away when you stopped eating gluten it was probably from celiac. As you've probably read, the lactose intolerance happens when the tips of the villi are damaged. A false positive is always possible on labs, but you said both you and your sister were off the charts so it seems highly unlikely.

What tests are they doing in Europe? I haven't run across new genetic tests and that sounds really interesting!

[JDilly]

Your doctor is only repeating the incorrect information she was given that all celaics MUST be DQ2 or DQ8. Open Original Shared Link is a big genetic study where they found celiacs without DQ2 or DQ8.

Gluten intolerance doesn't cause positive TTG. That is an autoimmune antibody. It comes up in some other autoimmune diseases but if it went away when you stopped eating gluten it was probably from celiac. As you've probably read, the lactose intolerance happens when the tips of the villi are damaged. A false positive is always possible on labs, but you said both you and your sister were off the charts so it seems highly unlikely.

What tests are they doing in Europe? I haven't run across new genetic tests and that sounds really interesting!

Interesting study! I'm right by the city, so I was thinking of making an appointment with Dr. Peter Greene. I have had the antibodies tested twice since after going gluten free (to be sure I wasn't getting any in my diet), and it was negative both times. So they essentially went away when off gluten. My sister has no symptoms other than the high antibodies.

I'm not sure of a source for the methods in Europe, but I heard that they run more of the DQ genes as having the potential for celiacs than the US does.

I feel like I'm just questioning everything now. Like, what if I was reacting to a wheat allergy, instead of milk, and I assumed it was one over the other? You've definitely given me some good information, though. If I do the gluten challenge, I'd monitor the antibodies closely, and do the biopsy like I should have done the first time. But I don't think I'd even want to do that if I start feeling sick again.

[Skylark]

Well, good luck sorting it out.