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ljturner

Genetic Markers Question - Need Help!

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OK, this may be a novel but bear with me.

About two years ago I noticed that my stool started to float and was very pale. I did some research and found that I have some symptoms suggesting celiac, including:

Bloating

Flatulence

fatty stool

mucous with BM's

constipation

sores on tongue

fatigue

feeling "in a fog"

fould smelling stool

irritability

heartburn

reflux

very dry skin on face (flaking)

cramping in abdomen

muscle twitches in face

peripheral neuropathy

So I went to my primary who set me up with a gastroenterologist. In the two years since I was referred I have had the following tests / procedures:

Lactose Intolerance - negative

Celiac antibodies - negative

Upper GI series - unremarkable

Multiple ct scans - found diverticulitis

HIDA Scan - found gall bladder dysfunction - had it removed in 2005

colonoscopy - negative

endoscopy - found GERD, chronic gastritis, hiatal hernia

Blood tests - negative for thyroid, Lyme

B12 deficiency - positive, below 200, now taking sublingual supplements

Diagnosed with IBS

Because I have tried many therapies without any change, my gastroenterologis ordered genetic testing. I just spoke to the nurse who said I have no markers for Lactose Intolerance, no markers for Inflammatory Bowel Disease, but ONE marker for Celiac. She said that doesn't mean I have celiac but it does mean I could "come down with it".

I am more confused than ever and won't go back to the doctor until February.

Can anyone out there help me interpret this? Should I try going gluten free or wait - what if they repeat the endoscopy? They did gastric biopsies so would that mean it would shoew automatically or only if the did an intestinal biopsy and specifically tested for celiac?? :huh:

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I just called the nurse back and got more specific information about the test results:

IgG level was .9

IgA level was .8

TTGIga level was .7

IgA IFA was negative

Total IgA was 240 milligrams per decoliter (normal is 44-441)

The alleal HLA DQA1*0501 was decteded and the relative risk was rated at extremely low.

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Do you have reference ranges for the other test.You can always test threw entrolab and see if you are reacting to gluten, they cant confirm celiac but can tell you if u are racting to gluten, can also check for casein, soy, yeast and eggs. Or you can just go on a gluten free diet, blood work is not the most accurate to test for celiac, but the diet is a great indicator.paula

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IgG level was .9, normal is less than 10

IgA level was .8, normal is less than 5

TTGIga level was .7, normal is less than 4

The tests were done by prometheus labs.

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keep in mind I am no expert by anyones standards and most of what I learned came from this very forum.....

as for the blood test you can get false negatives, so you may want to concider retesting...

as for the DNA marker, you at least are a "possible" at the very least

You do however have multiple symptoms which may or may not be celiac related

So.... you have 3 choices.....

#1 continue with the doctors schedule and hope they find the problem or problems...... I would however request a retest of the celiac blood test at the very least.

#2 get an entero labs test and check with them (believe this will be an out of pocket as most insurance does not cover this test)

#3 try the gluten-free diet and see if it helps, keep in mind if you do improve to be retested you would have to eat gluten again for the tests to be anywheres near acurate, however if the diet works and you dont "need" the positive medical diag then stay with the diet.

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I just called the nurse back and got more specific information about the test results:

IgG level was .9

IgA level was .8

TTGIga level was .7

IgA IFA was negative

Total IgA was 240 milligrams per decoliter (normal is 44-441)

The alleal HLA DQA1*0501 was decteded and the relative risk was rated at extremely low.

It takes DQA1*0501 and DQB1*0201 to make DQ2. You have one half of that.

neesee

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I would give the diet a good strict try. You may be able to cancel that appointment in Feb. if your dietary response is good. Relying on blood tests delayed my diagnosis for years and the endo is far from perfect. You have gotten a lot of good advice. There are different ways to go and you have found a great place for info and support whichever way you decide.

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I would give the diet a good strict try. You may be able to cancel that appointment in Feb. if your dietary response is good. Relying on blood tests delayed my diagnosis for years and the endo is far from perfect. You have gotten a lot of good advice. There are different ways to go and you have found a great place for info and support whichever way you decide.

The nurse on the phone said that the dr didn't do an small bowel biopsy and that the upper duodenum looked normal according to his notes. But, the endoscopy was ordered due to GERD symptoms and so he wasn't looking to rule out celiac. So then I wonder, does that mean he only would have done a biopsy if it looked like the intestines were damaged or that he didn't look with celiac as a possibility? Of course I don't have the answer but it drives me a little batty trying to figure this all out!

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does that mean he only would have done a biopsy if it looked like the intestines were damaged or that he didn't look with celiac as a possibility?

Either way, he goofed. He should have done a biopsy no matter what it looked like, because often damage can be patchy, and early-stage or mild damage is only visible under a microscope.

And with a high IgA, he should have been looking for celiac and done a biopsy no matter how healthy everything looked.

There have been people who posted on this forum who had biopsy-confirmed celiac and NO genetic markers. Partly, that's because in this country, they only recognize 2 of the markers. In other countries, they recognize more markers as being linked with celiac. I'm not sure why that is, though.

I feel that what I have learned from the more experienced people on this board is that the most important thing is to STOP THE DAMAGE. As you can see from ravenwoodglass's experience, you can spend an awful lot of time waiting for blood tests, endoscopies, etc., and the whole time you are waiting, if you are eating gluten, even a small amount, you are continuing the damage. If you are not eating gluten, or only a small amount, then the tests will be negative, as they measure your body's response to large amounts of gluten.

Kind of a catch-22, isn't it?

But if you go off gluten (and ya gotta be strict, but it's not NEARLY as hard as it sounds), and your symptoms improve, then you have your answers. Dietary response is a valid diagnostic tool.

Isn't it amazing--they throw all kinds of meds at us--antacids, H-2 blockers, things that make you go, things that plug you up, even antidepressants--but they never say, "Gee, you might be eating something that is causing all this. Let's try taking out the most likely culprit (gluten)."

Duh. :rolleyes:

Keep in mind, many celiacs have problems with dairy. Some have a separate intolerance, and some are able to reintroduce dairy after their intestinal damage has healed. This is because lactase--which breaks down the lactose in the dairy--is produced by the villi. Damaged villi don't produce lactase.

Also IBS is not a disease. An inflamed or irritated bowel is a symptom (that's why it's called inflammatory bowel SYNDROME--a syndrome is a collection of symptoms for which they don't know the cause). Interestingly, the symptoms of IBS are EXACTLY the same as the symptoms for celiac. But the standard of care is to throw meds at IBS, not to test for celiac, and not to change the diet.

Have you tried the gluten-free diet yet? Does it seem to help you?

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Can you please elaborate? I am not sure what that means...thanks!

It takes an alpha allele and a beta allele to make DQ2. You have the alpha allele.

neesee

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And celiac causes B12 deficiency...

Hence my utter confusion at this point - is it only b12 defieciency or celiac? And why did my gall bladder crap out (pardon the pun)...I had no stones, it just plain stopped working. Now, this morning I had a bagel for breakfast and had very painful cramps right away - but being me I am not sure if it's because this is so much on my mind! It's a catch 22!

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Sorry to be causing confusion!

I assume B12 deficiency can have many causes; but I do know that, assuming a healthy diet, vitamin deficiencies indicate an intestinal absorption problem. Celiac is the most common cause of absorption problems; it damages and eventually destroys the villi, which is what absorbs the nutrients. At any rate, B12 deficiency is the SYMPTOM of a bigger problem; in your case, I'd guess celiac (or gluten intolerance, call it whatever you want), but I am not a doctor. (thank heavens! ;) )

Your reaction to the bagel sounds like what most people on this board describe as their reaction to gluten.

Some people here do seem to have gall bladder problems. I wonder if that is also gluten-induced, or if that is a totally separate problem? Perhaps, gluten triggers the immune system to attack the gall bladder? Or does too much fat in the diet cause gall bladder problems? Hopefully, someone who knows a lot about galll bladders will post some answers!

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Sorry to be causing confusion!

I assume B12 deficiency can have many causes; but I do know that, assuming a healthy diet, vitamin deficiencies indicate an intestinal absorption problem. Celiac is the most common cause of absorption problems; it damages and eventually destroys the villi, which is what absorbs the nutrients. At any rate, B12 deficiency is the SYMPTOM of a bigger problem; in your case, I'd guess celiac (or gluten intolerance, call it whatever you want), but I am not a doctor. (thank heavens! ;) )

Your reaction to the bagel sounds like what most people on this board describe as their reaction to gluten.

Some people here do seem to have gall bladder problems. I wonder if that is also gluten-induced, or if that is a totally separate problem? Perhaps, gluten triggers the immune system to attack the gall bladder? Or does too much fat in the diet cause gall bladder problems? Hopefully, someone who knows a lot about galll bladders will post some answers!

No, I didn't mean you were causing it - I really appreciate the input!! I definitely think there's an auto-immune component to all of this and I am determined to figure it out even if my docs don't think it matters.

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@Alaskaguy With regard to the timing, I think that everyone is a bit different! I used to have a shorter time to onset when I was first diagnosed (within 24h). As time has gone on, and I've glutened myself less and less, I have noticed that the time gets a bit longer.  Recent history seems to matter a bit too - if I've been glutened recently and then get glutened again, the rash will show up faster on the second round. For example, in the last 3 weeks I got slightly glutened by inadvertent
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