JoshB

Maybe this will help:

https://www.celiac.com/articles/21628/1/Celiac-Disease-Genetics/Page1.html

If that info is up to date, then the testing companies providing those incomplete results are just plain evil. Like, should be restricted from offering that test and ought to be the target of a class-action evil.

So, there's a lively discussion going on another topic, and one of the questions there revolves around what "DQ" testing provides. My previous assumption was that DQ testing worked pretty well, and that it gave you a specific fix on your DQ type. We have another assertion, though, that DQ tests sometimes only tell you whether DQ2.5 or DQ8 was found. If true, this would be totally inadequate for celiac disease screening.

So, what services have people used to determine their DQ types? What sort of results did you get back?

I've used 23andme, and they told me I was homogeneous for DQ2.5. I believe with more work (looking up variations yourself in a public database) that it should be possible to determine most if not all DQ variations. The cost is $99 up front and I think $5/month; you're forced to sign up for twelve months.

Maybe I'm confused on something here. My doc didn't test my HLA-DQ type; I already knew it by other means, so I don't have a lot of personal experience. Everyone I've seen post on these forums, however, has posted tests that did resolve DQ types other than 2.5 and 8.

Is there some lab commonly in use which doesn't look further? That seems almost criminally negligent. My assumption is that if you get your "DQ" type tested, you'll end up with an accurate and specific result, not that they are simply saying "You have DQ2.5/DQ8" or "You don't have DQ2.5/DQ8".

Nora, you may be right that they would pick up 7.5 as 2.5; I don't know enough to say for sure, but they specifically indicate that they were not testing for 2.2, and that all the "left-overs" were found to be 2.2. So again, this is exactly the result that previous studies would have us expect. This result should not be surprising or inflammatory, but it's presented in such a way as to come across like that.

Irish, I agree that they were not claiming to test more than 2.5 and 8, but they lead you to try to draw the conclusion that you just explicitly drew: that "Genetic testing is not a diagnostic tool IN and of itself, no. It's primary purpose USED TO BE to exclude diagnosis if the patient had symptoms suggestive of celiac."

Again, I have to say that genetic screening does seem to be very useful in excluding celiac disease. The study could certainly be used to say that screening limited to only DQ2.5 and DQ8 is not useful, but I don't think that anyone should be or are using such screening to begin with.

I don't dispute that a test for DQ2.5 and DQ8 is ineffective. But the suggestion I'm getting from this discussion is that genetic testing itself is ineffective as a screening tool. That, I would say, is not supported by the linked paper. The paper proposes a straw-man so that it can have surprising and "controversial" results.

The problem with this is, that I don't think anyone would seriously advocate that the test they propose should be an effective screening tool. It's well known that DQ2.2 and DQ7.5 are also susceptible, so if you exclude them then of course you have an ineffective test.

The dutch gene tested a lot of diagnosed celiacs, and only 92% had the genes!

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I think I should point out for anyone stumbling onto this from Google, that this paper doesn't seem to support the conclusions being drawn here. They tested only for DQ2.5 and DQ8. For some reason they did not test for 7.5 or 2.2. The numbers found actually seem to be about what you'd expect, and frankly even if they weren't this is a very poor study and not trustworthy. They've ignored the obvious steps of testing for other known troublesome DQ types, they seem to have no controls, and haven't investigated if some of the people in the study were family members. It's also done over a very small number of people; too small to draw conclusions about DQ types and the probability of celiac disease development.

I have been gluten free almost a year and recently was given antibiotics that contained a weird starch. It was apparently a new name (new to me and my pharmacy) for a derived wheat starch. I have had stomach pain, the 'gurgling' again, excess gas, muscle and joint aches, and diarrhea since day 3 of taking the drug, mildly at first and then horrid. I stopped taking them on day 5 when I realized what was happening and it's now a week past that and I'm still having the pain etc... not as bad as it was on day 5 when I stopped them but still noticable. Hopefully, it will stop soon.

Medication is so difficult because Augmentin the name brand is considered gluten free but the generic's can vary by manufacturer. I'm going to talk to my doctors about an alternative to pills should I need antibiotics again in the future.. This is crazy to be so sick from a drug that's supposed to make me better. GRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRRR

Medical starch is supposed to be corn unless marked otherwise now, and even wheat starch should be gluten free when processed to medical standards. Upset stomach and diarrhea are pretty much the #1 side effects of any anti-biotic.

Used to take me about a day. Now it seems to be ~3 hours.

So you've done this, Josh? Does it tell you that you have a specific gene or just that you "are at risk", not naming a gene?

Yeah, I've done it. It's really interesting. What you get from 23andme is a table of hundreds of thousands of raw SNP values, sometimes an SNP will help you figure how what version of a gene you have. An SNP(single nucleotide polymorphism) is a single "letter" change in a dna strand. Basically they take 10,000 people, fully sequence them and look for places where there are common differences. Then they make a "Chip" that takes your DNA and examines it at all these places. 90% of those changes are meaningless, but sometimes they correlate with something useful. For instance you can find out your DQ values (definitely 2s and 8s, not too sure about the others). You can also use it to find out other HLA information, ancestry data, and all kinds of neat things.

Don't expect too much. DQ values aren't even all that useful, and most genetic info is much less useful than that for determining disease risk.

I would say that what you can find out, if you're willing to do a little work, is about 100X as useful as what I've seen from labcorp and the like.

2. Little finger (Pinky) much shorter than then 1st distal joint on the ring fingers. (a visible indicator for Celiac disease etc)

That's really interesting, Irish. I'd never heard of the pinky thing before. I wonder how good a predictor that is?

And yeah, I'm keeping the pictures, Jestgar. I don't think they have always looked like that, but it's so hard to say. Apparently if I say "I know it like the back of my hand" then that actually doesn't mean very much. I'm a little concerned, though, that I'll monitor changes through the pictures until something is really obvious. Then I'll go in and they'll say: "Why did you let it get that bad? We could have done something before."

HLA-DQA1Marker:rs2187668

Celiac Disease occurs only in people with certain versions of an immune system protein called HLA-DQ. HLA proteins are encoded by a set of genes on chromosome 6. Together the genes are referred to as the "HLA region." Proteins from the HLA family are involved in the immune system's recognition of invaders. They are responsible for presenting bits of foreign proteins to immune cells and triggering the cells to attack.

Functional HLA proteins are actually composed of two component proteins, each encoded by a separate gene. HLA-DQ is comprised of DQalpha and DQbeta. There are many possible versions of each of these sub-proteins of HLA-DQ. To be susceptible to Celiac Disease a person has to have HLA-DQ proteins made up of a particular combination of DQalpha and DQbeta protein types. The HLA-DQ proteins with the combinations that can lead to Celiac Disease are called HLA-DQ2 and HLA-DQ8.

HLA-DQ2 and HLA-DQ8 proteins have structures that differ from HLA-DQ proteins made up of other versions of DQalpha and DQbeta. The altered structures of HLA-DQ2

and HLA-DQ8 allow them to bind to gluten. If gluten in the small intestine comes into contact with immune cells displaying HLA-DQ2 or HLA-DQ8 on their surface, the immune system is activated, leading to the symptoms of Celiac Disease.

Within HLA-DQ2 and HLA-DQ8 there are further distinctions of subtypes, some with more or less risk for Celiac Disease. Traditionally, HLA-DQ proteins have been detected using blood tests that look at proteins, not genes. These tests can pick up all subtypes of HLA-DQ proteins associated with Celiac Disease. 23andMe is not able to provide data about all subtypes of HLA-DQ2 and HLA-DQ8. We only report data on one subtype of HLA-DQ2. Of

all the risky HLA-DQ subtypes, this subtype, called HLA-DQ2.5, is most often associated with Celiac Disease.

*******************

LabCorp reports subtypes (at least that's what I read). We'll see.

That is what 23andme will give you from their interface. The interesting thing, though, is that you can get your raw SNP values and with some work of your own, figure out a lot more. There's a tool called "Promethease" which takes your raw SNP dump and matches it against a database of known risk factors.

I would suggest checking out 23andme to do a full SNP map. You'll have to pay $99 up front and then sign up for their stupid "update service" at $5/month for a year.

OK. I have joint issues, which may or may not be fully celiac related. If it all is from celiac, then is seems like there's not much to be done except continue eating gluten free. Possibly take more supplements and/or go militant-crazy on gluten-strictness.

Option B is that there's something else wrong, and if I don't pursue it, then I'm just waiting around while more and more damage is done. It's certainly possible for other diseases to occur with celiac disease; auto-immune problems are even much more common.

I've got other joint involvement, toes are similarly altered to a much greater degree. My knees and elbows hurt with use. But what really concerns me is my hands, cause what can you do without your hands?

Lately, I've been paying more attention to other people hands, and it's clear that some imperfections are "normal". So now I'm pretty confident that "hands hurt"="bad", but not that "fingers curve"="something wrong". I took a picture of my hands four months ago to have a point of comparison for the future. I'd just had x-rays that the doctor said looked normal, so I figured all I could do is look for further changes down the line. It seems to me that my hands have changed from that point, but only slightly.

So I'd appreciate some opinions on this. Look at the picture I'm linking and compare with your own hands. Do you think mine are relatively normal? Am I worrying about nothing? And of course if anyone on here is looking at this and thinking "That sounds like alphabet-soup syndrome. I have that!" then please pipe up.

You can order the "home" test from Canada. But there is usually a local place that will test without a doctor's order. I would suggest that the home test would be nice if it was positive, but since it only performs one of the tests they will run in a celiac panel (IgA-TtG I think?) it might be more effective to get the full panel.

[Edit] This post is getting off topic; breaking this off into another thread.

I don't think I'm fully healed yet, but reactions do seem to be getting worse the longer I've been gluten free. Very annoying. I wish they got better as you were more repaired and able to take the damage.

You had a positive DGP, right?

So you had a positive test which has a 95% specificity rating (and probably only that low because they haven't done 12/24 month followup studies yet). You're comparing that to a test(biopsy) with a 15% false negative rate. I would think that this is pretty suggestive of celiac disease in the very early stages. TTG seems to be related to the extent of intestinal damage; that also backs up that hypothesis. You should be happy!

If your pediatrician doesn't want to run blood tests then you could always have it done yourself. I certainly think you'd be better off asking the doc to do it first, though.

Who did your tests? Those results are the nicest/clearest formatting I've ever seen.

And yeah, not a celiac panel.

My knuckles are red sometimes but not always, and it doesn't seem to correlate with pain. They are enlarged, but it's hard to tell if maybe they just look big because I'm so skinny.

Some of the joints don't straighten all the way, and some twist to the side a bit, so I'm relatively sure there is something going on beyond nerves. The doc took x-rays though, and just says "Looks good! No problems on the film." How you can have those sorts of physical changes and not see something on an x-ray is beyond me, but unfortunately I know jack about x-rays. He did some sort of blood test for arthritic inflammation, but that was negative too.

Yes, and the damage can look similar with an endoscopy. Been backpacking?

It can take time. If after several months you don't think you're making progress, then make an appointment with a gastroenterologist. It's possible that you may need steroids to start healing.

On a lighter note...I read that "CHIPOLTE"resterant is compleatly gluten free(except for flour torrtillas-optional)...and will even change the gloves thier wearing if you ask!!!

I go there all the time. Never had a problem that I've noticed.

The worsed thing though..is trying to correct a misspelling..and make the same mistake...some times three times!! it's like..man I'm stupid ..WTF!!! ..very fustrating! or like I said before...you go to write how..and it comes out who..or worse..owh! It's not funny!!. not if it's happening to you!

It is getting better now that I'm watching my food. But Ihave quite a ways to go.

The worst thing is making a small spelling mistake and believing auto-correct when it suggests an entirely different word.

Anti-gliadin is closer to being an "Am I eating gluten?" test than a celiac disease test. I would have expected to see IGA and/or IGG -ttg tests. And you might see something called EMA. There should also be a "Total IGA" serum or something like that. The test you got is pretty unusual and not really very good so far as I can see. Although the ttg-igg that you did get is a pretty good marker and your results would tend to indicate that you're in the clear because of it.

Well, we don't know what sort of "Igg" and "Iga" values those were up top. Given your docs response, they were probably anti-gliadin, which is not specific and usually not run these days.

Maybe start an elimination diet? Find one simple meal that you do well on, eat for a couple weeks until you're feeling pretty good, then slowly add things back in until you encounter problems.