Seeking Diagnosis Advice

[MarshaM]

Hi --

Thanks for the great resource that I have just discovered.

I am seeing my doctor tomorrow to talk about celiac disease. I have (pre-menopausal) osteoporosis, iron deficiency, vitamin D deficiency, hypothyroidism, migraines and gluten allergy (nasal/respiratory symptoms). I am a bit bewildered about how to go about this. I fear that my doctor -- who seems up on most things -- doesn't know too much about celiac disease, or I think she would have suggested the possibility (she's known about these problems for years!).

I don't know if I should be going to my regular doc, or to a gastroenterologist. I also have good access to NDs and nutrition counseling, and maybe should go that route...

From what I read, all the tests seem to be somewhat controversial. Some say blood tests, some say genetic tests, some say endoscopy, some say don't trust any of the tests. Is there really a consensus, or still many theories that don't have general agreement?

I could certainly try just the gluten-free diet (I am 95% gluten-free now), but don't think I could see any results in less than a year or so, since my ailments are all long-term things, not immediately observable.

Any ideas??

Thanks so much --

Marsha

[tarnalberry]

I could certainly try just the gluten-free diet (I am 95% gluten-free now), but don't think I could see any results in less than a year or so, since my ailments are all long-term things, not immediately observable.

Being gluten free, or nearly gluten free, may give you false negatives on the blood test or biopsy. The medical profession sees the blood tests as the first step - a screening, with diagnosis confirmed with a positive biopsy. Like ANY medical test, these are not 100% reliable for finding any and all cases of celiac disease, but it's a pretty decent first step. Since you've been nearly gluten-free, however, it's kinda a moot point, unless you go back on gluten to the tune of three slices of bread a day for three months.

You *can* just try the diet, and, in a month, have a big bowl of pasta (or some other wheaty meal) and see how you react. You may be surprised to find that not all of your systems are purely long term ones. If you do this, however, 95% gluten free is as good as not being gluten free at all; it must be all or nothing.

[Claire]

I would say that if you are 95% gluten free skip the bloodtests. You may well get a false negative.

I know what you mean. We are all rather opinionated about tests.

I cast my vote for genetic testing first. If you test negative that will allow you to remove Celiac and gluten sensitivity from consideration. It will not confirm a positive. But if you are negative there is nothing for a blood test to prove. If you are positive and have the symptoms you can be quite certain.

I don't generally approve of lying but sometimes it is almost necessary. If there is any hesitation about getting tested - just say my sister, my father, or some close relative has Celiac so I might have it to. Doctor is not likely to argue with that.

You could go for the biopsy but the doctor probably wouldn't order it without the blood work first. The blood work would need a gluten challenge - a bad idea. You would have to go back onto a full gluten diet for months - how many seems to be up for debate. Injurying your body to get a diagnosis is a tough way to go.

Fox News said it - "you decide". Claire

[tarnalberry]

Keep in mind that genetic testing also is not fool-proof. Not all of the genes involved in celiac, or gluten intolerance as a separate entity, have been discovered, so you can't actually rule it out if you come back negative on the genetic tests. (The chance is very low - only 2% of people with biopsy determined celiac disease don't carry one of the two major genes.)

[Claire]

Keep in mind that genetic testing also is not fool-proof. Not all of the genes involved in celiac, or gluten intolerance as a separate entity, have been discovered, so you can't actually rule it out if you come back negative on the genetic tests. (The chance is very low - only 2% of people with biopsy determined celiac disease don't carry one of the two major genes.)

Right - not fool proof - put closer to fool proof than the blood tests seem to be. Maybe the tests are okay but are being handled by technicians unfamiliar with them. Many doctors have to look up what they need to order!

I had the Panel done on orders from a neurologist who suspected Celiac. I had been on a diet free of grains for many years. Of course, I tested negative. I had the gene test for Celiac not for the gluten sensitivity. That was also negative. Another set of neurologists have a different idea so sometime within the next month I should know if they got it right. If not I will go back to genetic testing for gluten sensitivity. I have thought that either Celiac or the flip side of the coin was the answer but only time will tell.

I do believe the genetic testing beats a gluten challenge if it comes to one or the other.

Nothing in the world of lab tests is fool proof. With celiac and many other genetic disorders as well they only know what has been learned in just the past few years. Then there are lab errors, inexperienced techs and so on. Claire

[Rachel--24]

Keep in mind that genetic testing also is not fool-proof. Not all of the genes involved in celiac, or gluten intolerance as a separate entity, have been discovered, so you can't actually rule it out if you come back negative on the genetic tests. (The chance is very low - only 2% of people with biopsy determined celiac disease don't carry one of the two major genes.)

Tiffany is right, you can't 100% rule celiac in or out with genetic testing. You can also have gluten intolerance with all the same problems of celiac but w/out villi damage. It's called non-celiac gluten sensitivity.

[tarnalberry]

Then there are lab errors, inexperienced techs and so on. Claire

My point is that it's more than this. The genes tested for are not the only genes that cause celiac disease. There are others that aren't known (and this is known because celiac has been diagnosed in those without either gene).

It's sort of like asking someone, who's half a dozen jelly beans in their hands, "do you have a red jelly bean or a green jelly bean?", they look down, seeing yellow, pink, white, blue, purple, and orange, and say "no", and then you conclude they must not have any jelly beans, because you only know about red and green ones.

I worry that people on this board put too much faith in the genetic tests. Heck, the ones regularly tested for (outside of Enterolab) are just the celiac disease ones, not to mention the other genes that some doctors believed to be linked to non-celiac gluten intolerance. We've got members on this board who've gotten the gene testing to be told there's no possible way they could have celiac, but who've seen a difference on the diet. And the fact that they don't know what all to test for means that the test cannot be complete. (And, given the complexity of the human genome, and the apparent complexity of the genetic contributors to celiac disease, it may be quite a while until the full genetic map of the disease is known.)

I agree that it's better than nothing. Ideally, a doctor would just call in all the tests at once, instead of waiting on tests that aren't always even consistent with one another. (Even more ideally, the peer review on fecal testing will step up soon!)

[Claire]

I worry that people on this board put too much faith in the genetic tests. Heck, the ones regularly tested for (outside of Enterolab) are just the celiac disease ones, not to mention the other genes that some doctors believed to be linked to non-celiac gluten intolerance. We've got members on this board who've gotten the gene testing to be told there's no possible way they could have celiac, but who've seen a difference on the diet. And the fact that they don't know what all to test for means that the test cannot be complete. (And, given the complexity of the human genome, and the apparent complexity of the genetic contributors to celiac disease, it may be quite a while until the full genetic map of the disease is known.)

I agree that it's better than nothing. Ideally, a doctor would just call in all the tests at once, instead of waiting on tests that aren't always even consistent with one another. (Even more ideally, the peer review on fecal testing will step up soon!)

Blood testing is not an option for everyone. Though I had the Panel , it was pointless after being gluten restricted for so long. What may be discovered in the future doesn't rule out using what we have at this time. For now I will accept that I do not have Celiac. Gluten sensitivity maybe - but I have to go the genetic routeto test for that also.

As for responding to diet: a gluten free diet is being prescribed for many people who do not have Celiac and whose conditions improve with the gluten-free diet. So improvement proves more about gluten than it does about celiac. Responding to a gluten-free diet doesn't prove celiac or gluten sensitivity. Highly suggestive but not proof because people with other non-celiac diseases also improve on gluten-free diets. One of the neurologists that I have seen recently tells me of improvement in his MS patients and his Lupus patients when a gluten-free diet is followed.

He believes gluten is toxic and an irritant in the presense of many disorders - especially neurological ones.

Claire

[tarnalberry]

... As for responding to diet: a gluten free diet is being prescribed for many people who do not have Celiac and whose conditions improve with the gluten-free diet. So improvement proves more about gluten than it does about celiac. Responding to a gluten-free diet doesn't prove celiac or gluten sensitivity. Highly suggestive but not proof because people with other non-celiac diseases also improve on gluten-free diets. ...

I definitely agree with that. But I think it's the most important question to answer: "Do I have to follow a gluten free diet or not?" I think that question is even more important than "Do I have celiac disease?", because the latter is a subset of the former. I realize that some people find that they do need the additional specifics however. I hope the genetic research continues well, and that it's a closed problem such that they can exhaustively find the genes that contribute to it. :-)

[Claire]

I definitely agree with that. But I think it's the most important question to answer: "Do I have to follow a gluten free diet or not?" I think that question is even more important than "Do I have celiac disease?", because the latter is a subset of the former. I realize that some people find that they do need the additional specifics however. I hope the genetic research continues well, and that it's a closed problem such that they can exhaustively find the genes that contribute to it. :-)

I imagine that ten years from now the clinical pictures of celiac and other disorders only now being seriously researched will look decidedly different. In the meantime we have only the knowledge that is available. Some genes for celiac have been identified and we certainly can find out if we have any of those. That is definitive - the best we can do right now. It concerns me that villi damage is the gold standard for diagnosis.

The results of British tests showed that a very high number (I think it was around 33%) had no such damage. It seems that Celiac is the victim of semantics and that the clinical picture is unnecessarily blurred.

In Dangerous Grains there is discussion of this. I opted for genetic testing because I was wisely warned against risking further damage by doing a gluten challenge. I know that in the future the tests will probably be more refined and more extensive but what can we do but go with what we've got.

Speaking of genetics, in my own situation, I am being evaluated (genetic testing) for a neurological disorder about which they know very little. It has been identified only since 1997 though it existed by another name in the past. Symptoms are recognizable but easily confused with other causes. As the specific gene has been identified so at least a diagnosis can be confirmed. gluten-free comes with the territory but without the promise of recovery that it offers to celiacs. Claire

[Claire]

MarshaM - Hi and welcome. I hope all these 'discussions' haven't hopelessly confused you.

Certainly you need to do what seems best to you. Genetic tests, blood tests and stool sample tests are all available and this forum has a search feature that you can use to look backwards at what has been said on a given subject.

Do keep us posted. Claire

[jknnej]

First of all, you absolutely need to see a GI doctor.

Second, if you really want a true diagnosis, you must eat gluten. It is worth having the diagnosis because not knowing means going 100% gluten free and inconviencing yourself needlessly. It is easy to remove wheat, but not to change your shampoos, lotions, soaps, make-up, laundry detergent, stop eating out for the most part, check every label all the time, etc. That is too much work for a "maybe."

Try going on vacation and staying gluten free! I spend hours packing foods and looknig for hotels with microwaves and refridgerators. Then when others want to eat out I have to sit and watch. Trust me, it's best to know for sure.

[Claire]

You may find something of interest at these sites. Claire

FRUCTOSE INTOLERANCE & FRUCTOSE MALABSORPTION

Open Original Shared Link

FRUCTOSE INTOLERANCE IS ON THE RISE

Open Original Shared Link