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Genetics Question?


vbecton

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vbecton Explorer

Okay guys, I got my Enterolab results yesterday. I ordered Enterolab before I could get into the GI doctor, so I was desperate. My GI doctor did an endoscopy last week, which showed damage in my small intestines (full results aren't here yet) and that was after 8 weeks of gluten-free diet. My GI said there were probably enough goodies to suggest Celiac. Here's the Enterolab:

A) Gluten Sensitivity Stool and Gene Panel Complete *Best test/best value

Fecal Anti-gliadin IgA 19 Units (Normal Range is less than 10 Units)

Fecal Anti-tissue Transglutaminase IgA 7 Units (Normal Range is less than 10 Units)

Quantitative Microscopic Fecal Fat Score 900 Units (Normal Range is less than 300 Units)

Fecal Anti-casein (cow

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Zizzle Newbie

I'm new here too, so I can't comment on many of your questions, but regarding dairy, you are probably lactose intolerant due to the intestinal damage, you may not necessarily be sensitive to casein, the protein in milk. If you do OK with yogurt and lactose-free milk, it's just lactose intolerance and it may go away after you heal your gut. I've been gluten-free for 2 weeks, and after feeling GREAT at first, i'm now suffering from extreme mental fogginess and sleepiness. I suspect it's gluten withdrawl. The diarrhea initially improved a bit, but now it seems to be getting worse. I hope this turns around soon!

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nora-n Rookie

That high fecal fat score means you have a lot of villi damage.

The Enterolab tests do not count much with ordinary doctors and are only designed to be so sensitive that they pick up early gluten and other issues.

ttg is a marker of gut damage and if you are gluten free the damage of course is reversing so that the ttg levels go down.

Being off gluten makes it harder to get a diagnosis, but you have the Enterolab tests with very high fecal fat scores and the antibodies to confirm there is an issue.

Maintream testing is designed to not to pick up any false positives, it looks like they are very afraid of that. With false positives they also mean symptoms but nor a lot of gut damage upon endoscopy.

It took me 7 months totally off gluten and I woke up one morninge and I was not so awfully fatigued.

Have you gotten any b-12 ? It is said to hel cell regeneration or things like that. Some even think taking b-12 can be the cause of positive blood tests and negative biopsies, that it causes false negatives. Just a theory. (steroids do that)

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Skylark Collaborator

Your endoscopy and feeling better off gluten is enough for you to be reasonably sure some degree of gluten intolerance is at least part of your problem. Your genetic results with DQ2 are consistent with celiac/gluten intolerance. I assume your GI took a biopsy. Once you get those results you'll know a little more.

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Korwyn Explorer

Given the fact that your doc said he saw visible damage after EIGHT WEEKS of being on a gluten free diet, and even without the lab work being back yet, combined with the low scores, would suggest to me that you need to have him run a total serum IgA. You may be IgA deficient which would make any IgA based antigen tests worthless. This would also mean you would have no easy way other than dietary response or repeat biopsies to verify your compliance with a gluten free diet. So it would be good to know if you are IgA deficient.

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Korwyn Explorer

I'm new here too, so I can't comment on many of your questions, but regarding dairy, you are probably lactose intolerant due to the intestinal damage, you may not necessarily be sensitive to casein, the protein in milk. If you do OK with yogurt and lactose-free milk, it's just lactose intolerance and it may go away after you heal your gut. I've been gluten-free for 2 weeks, and after feeling GREAT at first, i'm now suffering from extreme mental fogginess and sleepiness. I suspect it's gluten withdrawl. The diarrhea initially improved a bit, but now it seems to be getting worse. I hope this turns around soon!

Hi Zizzle,

If someone is IgA deficient you can't use IgA response to Casein or any other IgA measurements as a guide. See my response above.

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vbecton Explorer

Thanks for the tips. I'm definitely on B12, as well as a boatload of other fun stuff. I'm hoping that once my absorption gets better I won't feel so tired :)

Hi Skylark, I was hoping you would comment on the genetics portion. You are very informative on genetics!! Yes, my GI took biopsies. My Enterolab results said, "having one celiac gene and one gluten sensitive gene, means that each of your parents, and all of your children will possess at least one copy of a gluten sensitive gene." So, I got it from both sides? Gene analysis was performed by the American Red Cross (strange, I didn't know they did that type of stuff).

Hi Korwyn, I'm pretty sure my GI got a total serum from me last week. Would Celiac Plus cover that? My doctor sent me to a specialty lab within a hospital that would draw & handle the blood properly to send to Prometheus. I hope it was the right panels? It should be, I think it was 11 vials. My endo drew blood a few months back with a negative Celiac diagnosis, but my new GI thinks he can pull enough info from both to get the answers he's looking for, plus the biopsy.

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Skylark Collaborator

Hi Skylark, I was hoping you would comment on the genetics portion. You are very informative on genetics!! Yes, my GI took biopsies. My Enterolab results said, "having one celiac gene and one gluten sensitive gene, means that each of your parents, and all of your children will possess at least one copy of a gluten sensitive gene." So, I got it from both sides? Gene analysis was performed by the American Red Cross (strange, I didn't know they did that type of stuff).

Glad to be helpful. :)

I disagree a little with the way Enterolab calls genes "gluten sensitive". Just about any genotype can end up biopsy confirmed celiac; however, some genotypes carry much higher risk. 99% of people with celiac disease are either DQ2 or DQ8 with 80-90% of celiacs having a form called DQ2.5. Enterolab labels everything but DQ4 as potentially gluten-sensitive, without explaining that genes other than DQ2 or DQ8 are actually fairly low risk, or that DQ2.5 is higher risk.

Your 0201 allele is high risk. It is usually inherited as part of DQ2.5 (Enterolab didn't test for DQA1 to be sure) so chances are better than 99% that you are DQ2.5. This means that at least one of your parents is also at risk for celiac and your children would have a 50% chance of getting the gene from you. In a study where people were tested for HLA-DQ and anti-endomysial antibodies, 9% of the people with one copy of DQ2.5 had celiac serology so it would be wise for your parents to at least get a blood test.

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Your 0603 allele, often called DQ6 is very low risk. The parent who has that allele, or a child that gets it would not be at any particular risk for celiac disease or gluten sensitivity from that allele. It doesn't rule out celiac, but you would only worry about it if they had a lot of other symptoms.

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vbecton Explorer

Thanks Skylark! That's exactly the explanation I was needing.

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