Positive for two genes

[Stacy0w]

A friend of mine has a daughter who was just diagnosed with celiac so my friend, her husband and their two other children were gene tested. Kids were negative. My friend was only positive for one and her husband was positive for two. The dr had him do an endoscopy Tuesday. The dr said to go completely dairy free (he's had issues in the past with dairy) until they get the biopsy results. The dr has said that if it is negative that means he is free and clear for having AND developing celiac in the future. That isn't accurate or am I crazy?

[squirmingitch]

There are 2 "common" celiac genes. The gene testing is really used to rule out celiac not to confirm or diagnose celiac. There are blood tests (6 in a complete panel) for diagnostic purposes and then if there is even 1 positive, you move on to an endoscopy with biopsies. So back to the gene testing.... being positive for one or being positive for 2 doesn't really matter. You see, 30 to 40% of the population carries at least one celiac gene but only a minuscule # of those people will develop celiac.

I can't believe the doctor used a gene test instead of doing the serum panel. I'm not sure this doctor knows how to test for celiac. It makes no sense how he went about it! Your friend still doesn't have any idea if she's celiac or not. AND their other 2 children? What kind of testing was done on them? The gene test again? 

Another bit of info. on the genes....it is not common but there are people who do not have either of the 2 genes & yet are medically diagnosed by serum as well as endoscopy. We have a couple of them on the forum.

How many endoscopic biopsies were taken when your friends husband had the endoscopy? Had he been eating a normal gluten diet every day for at least the 3 months prior to the endoscopy? 

He may very well have problems with dairy. Some people do. Celiacs often do b/c the tips of the villi are what processes the sugars in dairy & with celiac, the tips of the villi are the first to be damaged thus causing problems digesting dairy products. 

If the doctor told them that if the endoscopic biopsies end up being negative then he can be sure he does not have celiac AND WILL NEVER DEVELOP celiac then the doctor is a flaming idiot! Just because you don't have celiac today does NOT mean you will never develop it. This is exactly why 1st degree family members of a celiac should be tested every few years regardless of whether they have symptoms but if they do present with symptoms, then they should be tested ASAP. Celiac can present at ANY age. 

[Ranchers Wife]

Yeah, if you understood correctly what the doctor told the husband, then the doctor is...not accurate. I like Flaming Idiot. Perhaps not politically correct, though.

If the husband had no positive celiac antibody tests (there are more than one), and no villi damage with the endoscopy....then he doesn't have celiac disease right now. Assuming, as SquirmingItch said, that the doctor took plenty of biopsies, analyzed them under a microscope, and husband has been eating plenty of gluten for months preceding the testing. He might develop celiac disease in the future and should be tested on a regular basis.

 

The genes...there are two major genes associated with celiac disease. They are called simply DQ2 and DQ8. Any given person has the possibility of having one or two copies of each gene. In the general population, 30% or more people have one or more copies of the DQ2 or DQ8 gene, yet only a small percentage develops celiac disease. There are a very few people who do indeed have celiac disease, but do not have either gene marker positive.

If the other kids in this scenario indeed have no DQ2 or DQ8 genes, they would not need to be screened routinely for celiac disease. If, however, they seem to have symptoms then they should be tested anyway.

Your friend should be screened for celiac disease since her child has been diagnosed, by blood antibody tests, even if she has no symptoms. Maybe by a different gastroenterologist!