Non-Gold Standard Dx Or No Dx--Which Is Better?

[BlessedMommy]

We have a doctor near our area who is very knowledgeable about celiac and has it as one of her special interest. She sometimes DX's patients with celiac based on factors other than blood tests/biopsy in certain circumstances.

 

Is a DX based on symptoms, symptom resolution, and genetics useful? Is it worth getting if its impossible to go the blood test/biopsy route? 

[Fenrir]

Why  is it impossible to get it via blood test? Do you mean that they were negative?

 

Celiac Disease can be diagnosed outside of diagnostic testing but many physicians wouldn't be comfortable doing it without extensive testing to rule most everything else out. 

[LauraTX]

There probably are some doctors that would give a diagnosis if say, a person was already gluten-free with a good record of previous symptoms, and can't tolerate what a gluten challenge does to them, and can't get a biopsy and gluten eating bloodwork.  I would speculate some would be comfortable with that and many would not.  Severe symptoms that correlate with Celiac and a positive bloodtest are one of those things where it is highly likely and not technically proven to the extent of what is medically available.  Worth trying for if you are wanting to get a diagnosis on paper.  

[BlessedMommy]

Why  is it impossible to get it via blood test? Do you mean that they were negative

My doctors initially didn't know what my problem was and didn't even suggest the possibility of gluten. I eventually had to figure out myself that gluten triggered my problem. By the time I was gluten-free for a few months, I was wanting a DX, but I ended up having major troubles with the gluten trial and abandoned it rather than going on to have a full blown stroke. My history is in my signature.

[NoGlutenCooties]

My doctors initially didn't know what my problem was and didn't even suggest the possibility of gluten. I eventually had to figure out myself that gluten triggered my problem. By the time I was gluten-free for a few months, I was wanting a DX, but I ended up having major troubles with the gluten trial and abandoned it rather than going on to have a full blown stroke. My history is in my signature.

 

Are you doubting that you have Celiac or NCGI and looking for a diagnosis?  Still having symptoms?

Without a good reason to have doubt, being that you had severe issues - went gluten free - had symptoms disappear - went back on gluten (or tried to) - and then had such severe symptoms that you could not tolerate the gluten challenge... I'm no doctor but you have Celiac.  If you have a doctor willing to document it on paper as Celiac based on this than it can't hurt.

 

Or am I missing something?

If it were me... I would happily take the diagnosis, continue being gluten free, and never look back.

[IrishHeart]

Ruth,

 

You've got several threads going asking the same questions about the testing protocol and I think you are

having a hard time deciding the best route. I completely understand. 

 

People with non-celiac gluten intolerance would also have a very hard time with a gluten challenge, so having to abandon that testing route does not mean you have celiac either. This is when the gene test and the biopsy are used to differentiate between the 2.

 

Non-celiac gluten sensitivity has been clinically recognized as less severe than celiac disease. It is not accompanied by “the enteropathy, elevations in tissue-transglutaminase, endomysium or deamidated gliadin antibodies, and increased mucosal permeability that are characteristic of celiac disease” (Ludvigsson et al, 2012). In other words, individuals with non-celiac gluten sensitivity would not test positive for celiac disease based on blood testing, nor do they have the same type of intestinal damage found in individuals with celiac disease. Some individuals may experience minimal intestinal damage, and this goes away with a gluten-free diet.

Research has also shown that non-celiac gluten sensitivity does not result in the increased intestinal permeability that is characteristic of celiac disease. Increased intestinal permeability permits toxins, bacteria and undigested food proteins to seep through the GI barrier and into the bloodstream, and research suggests that it is an early biological change that comes before  the onset of several autoimmune diseases.

 

So, if you are unable to do the gluten challenge, unable to have a biopsy, are negative on blood work, then you have the final option of the gene test. Get it  done and then take the results to this doctor and see what she says. Good luck!  

[GottaSki]

I agree with Irish.

 

In your situation, the gene test is an important piece of the puzzle.  Not only for you, but for your children as well.

 

Good Luck : )

[BlessedMommy]

I am definitely having a hard time deciding which way to go, especially being that I'm uninsured so I can't afford to choose the wrong/unhelpful way since I have to pay for every penny of it OOP. Thanks for understanding and being patient with all the questions. I've done a whole hoard of google searches too. 

 

I know there's no looking back, I'm definitely not trying gluten again. I'm also going to continue to maintain a gluten free home, watch for cross contamination, etc.

 

I think that you summed it up, I know that I obviously have a gluten issue, but it would be nice to get it narrowed down a little bit so I don't have to spend the rest of my life wondering which one it is. Given my symptoms (and also they fact that everything started with a trigger: pregnancy), if I come up with something really obvious like celiac genes as well, I'll say that narrows it down to celiac. If I don't have celiac genes, I'll say that it's NCGI and live the rest of my life gluten-free anyway, but at least I'll know.

 

It sounds petty to some, but I'm one of those who would have really benefited by a DX if doctors had run the right tests and asked the right questions to begin with. I don't have the time or inclination to be hospitalized so that's obviously not possible now, but I still want it narrowed down as much as possible.

 

Thanks for boiling it down for me!

[BlessedMommy]

Are you doubting that you have Celiac or NCGI and looking for a diagnosis?  Still having symptoms?

I'm fortunate in that I'm very healthy. I'm 32 and I would say my health hasn't been this good since I was about 16. So apparently the gluten-free diet has been working really well, because my health had started to go downward in my early 20's. I have a mom and older sister who both have very poor health (whom I suspect have un'dx'ed celiac based on their gastrointestinal symptoms, mal absorption symptoms, neurological problems, symptoms when they eat gluten containing grains) and my older sister is in her 30's and already disabled and not able to work. So those are also clues in the puzzle.

 

My 2 real concerns are:

1) My children. Celiac is genetic and I really want to know how "at risk" they are, if that makes sense

2) I have to eat this way forever and it'd be nice to have some slip from the doctor documenting it, especially in more difficult situations. (staying over at people's houses for a full weekend, etc.)

[cyclinglady]

I think I mentioned that my husband has been gluten-free at the advice of his GP/PCP and my allergist for the past 13 years. "Why don't you give up wheat for a week and see what happens?" First, he stopped snoring immediately. That, in itself, was a miracle and still is the first symptom to appear when he gets glutened by accident. Then all his body aches slowly disappeared, sinus infections, crankiness, etc. and those symptoms that he just accepted slowly dissipated. He just tells everyone that he has celiac disease or an allergy now. Our current doctors have it in his chart. Just like my allergies to NSAIDS, which have never been officially documented by a doctor (just witnessed by family and luckily resolved with Benadryl).

I was diagnosed last year by sheer luck. I just had anemia that was being masked by another genetic anemia. The osteoporosis and osteopenia was also hidden when I went for a routine colonoscopy.

I have one 13 year old. She has no obvious signs, like the anemia I had. I waited until our new US healthcare system was in place (we are self-employed and pay for our insurance) before requesting a celiac disease panel. I did not want that "ding" on her record as it might have affected our ability to insure her (rejections for new insurance or higher rates as she has her own separate policy). She tested negative. There is a good chance that someday she might develop celiac disease, but at least we know what to test for and what symptoms to watch for along with thyroiditis, lupus, MS, diabetes -- all which run heavily on both sides of our family. In the meantime she is enjoying her gluten containing lunches at school.

I hope you find your answers!

[NoGlutenCooties]

With the family history of health problems that you mentioned, I would be comfortable with the Celiac diagnosis that this doctor is willing to provide without bloodwork and biopsy.  Maybe not ideal - but without a gluten challenge and without expensive testing, this sounds like the most viable route to me.

 

I know some folks on here put quite a bit of stock in the genetic tests, but keep in mind that they only test for 2 specific genes known to be associated with Celiac.  And about 30% of the population have at least one of them - while only about 1% actually develop Celiac.  So even if you have one or both of these genes, it does not rule out NCGI and it doesn't guarantee that your kids inherited these genes from you and even if they did, it doesn't mean that they will ever get Celiac.  And if you don't have the genes, there is still a chance that you can have Celiac.  (some researchers claim you MUST have at least one of these genes to have Celiac, but there are folks on this forum who are officially diagnosed with Celiac who tested negative for either known gene)

IMO... the genetic tests are fairly worthless but I know some folks on here disagree.  Just giving you another opinion/option.

 

Either way, I would be on the look out for any symptoms in your kids and get them tested early.

[BlessedMommy]

Thanks for all the advice and thoughts. I know there's a lot of different viewpoints on the genetic tests and it's good to hear both sides of the coin. I wish that NCGI was better understood and I wish that there was a way to test for celiac without a gluten challenge. In the future, if they make a test like that, I'll be the first in line to take it. LOL!

 

At this point, I probably will start the conversation with my husband about pursuing genetic testing. I'm also going to talk to the local naturopath and see if she has any recommendations, because she herself is a celiac (blood and biopsy dx'ed) and so I'm sure that I'm not the first person that she's run across who's interested in genetic testing.

 

Though I would've rather gotten a DX, I'm thankful for good health. If I had waited 10 more years to go gluten-free, I could very well have developed permanent health problems. (I've heard that it takes the average celiac over a decade to nail down a DX)

[tri-gal]

Hi Ruth,

I totally understand your need to obtain the most accurate information and complete picture, particularly for your children.

It seems to me that the methodology and potentially level of detail provided for the genetic testing will vary (by lab as well as blood vs swab).

We went the swab route as it was something we could do on our own relatively expediently.

However, it does seem to me that there must be a reason that practitioners / hospitals etc would go the blood route. I think only someone who knows the methodologies can answer why. 

If you can consult an expert on the best testing approach, I think that would be best so there is no second guessing. The other point that comes to mind is that you may not need extra (e.g. alpha) info now, but lets say in a few years, there is more detail on the role etc. etc.... or let's say you land in an unknown area. However, it might be more costly and maybe it yields the same info, but that's where an expert opinion could help.

You've seen the other discussion on DQ9, DQ7 typing on your other thread and some views that it can't be, and some views that it could be.... predisposing. I've looked up other info and it turns out that DQ9 is rare in Caucasions  to begin with (ie. rare in the general Caucasion population never mind the Caucasion celiac population), and there is very little data.... but based on some studies, it could indeed be celiac predisposing. Only mentioning this as an example that no test is ever as straight forward as it seems at the onset (and because the lack of conclusive answers has been eating away at me too) .

 

In summary, my two cents are to go for the gene tests, but in consultation with an expert who can get the fulsome picture that you won't have to agonize over on your own.   I wish you luck whatever you decide.

[IrishHeart]

Ruth, 

People keep saying on various threads "there are many people on this forum with celiac who do not have either of the genes related to celiac"

 

But I only know of  one:  Ravenwoodglass. She's very sweet and I am sure she will be happy to talk with you. Try Pming her.
 

She was given a celiac diagnosis despite the results of her genetic test.

She is also seronegative. Maybe she will  explain how her doctor came to the conclusion

that she has celiac. 

 

As far as anyone accepting the research that is current about genetic testing, that's entirely up to

you guys. All I can say is, the one study I read on Pub med was from 2000. 14 years later, and still, the leading research centers maintain it's just the two. (the one from 2012 still says "possibly")

 

Jane Anderson wrote this as recently as 2012, but nothing since:

 

"HLA-DQ9 may also play a role in Open Original Shared Link. Much less is known about gluten sensitivity than about celiac disease, but there may be some common genetic issues involved.

Dr. Kenneth Fine, who directs the Open Original Shared Link gluten sensitivity testing laboratory, has conducted genetic research which he says indicates that HLA-DQ9 predisposes people to gluten sensitivity. However, his research hasn't been published and hasn't been accepted by mainstream physicians. Open Original Shared Link generally is a very new field, and there's not much known about the condition as of yet."

 

 

From what I can gather reading about this, until Dr. Fine allows his work to be published and peer reviewed, telling people they have "gluten sensitivity" either with blood tests or genetic testing seems very dubious at best.

 

I wouldn't base any diagnosis of an autoimmune disease on "may also" and "possibly",

But that's just me. 

[BlessedMommy]

No offense to anyone else who feels differently, but personally I feel fine with going along with the University of Chicago research. Being that they are the leading celiac researchers, I will accept their findings. And as of now, they're saying that unless you have either HLA-DQ2 genes or HLA-DQ8 genes, you cannot develop celiac. Perhaps in the future, they will develop more research and come to different conclusions, but as of right now, this is the most current research.

 

So I'm going with that, and if it turns out that I don't have those genes, I'll assume that "all" I have is NCGI and not a life threatening auto immune disease.   Either way, though, I'll still going to be faithful to the diet. 

[IrishHeart]

Enterolab gene test for CELIAC--done by cheek swab--- is verified by the Red Cross. So, if you can afford it, that one seems ok and if you live in a state where he can ship to, that's a possibility  for you.

[BlessedMommy]

Does it do the complete testing, though, alpha and beta?

[GottaSki]

Does it do the complete testing, though, alpha and beta?

 

I'm not familiar with the tests Irish suggested, but if it were me -- I'd call or look this information up on their website.

[IrishHeart]

Personally, I would  go for the blood test through a doc, but I was trying to give various options. 

 

yes, check out the website or call them with questions.

[BlessedMommy]

I don't go to doctors much at all.  I even had home births with all 3 of my kids. I don't get routine check ups of any type at Dr's. I only go if there's a dire need (like UTI or 2nd degree burn or something) or go to the ER in an emergency, like when I had my TIA or when I cut my finger badly and needed it stitched.

 

Being uninsured makes it financially tough, too. 

[Ninja]

Does it do the complete testing, though, alpha and beta?

 

I went through enterolab and no, they do not report on both the alpha and beta units – only beta. 

[BlessedMommy]

What is the disadvantage of only testing for the beta?

[Ninja]

Usually the beta and alpha units correspond with each other: if you have beta DQ2 present you are more likely to have alpha DQ2 present as well, however that doesn't always happen. Celiac can be observed in individuals with positive alpha and beta 'celiac genes' (DQ2, DQ8) or positive for either the beta portion or the alpha portion of those celiac genes. So theoretically, if you go through enterolab and it shows that you do not possess the beta units of DQ2 or DQ8 that does not exclude the possibility of having either of the alpha portions of those genes. In other words: it does not rule out celiac. 

 

On the other hand, if you do come up 'positive' through enterolab there's really no need to know the alpha portion, IMO. Does that help at all?

[BlessedMommy]

I see. So it really isn't very helpful, because it can't rule it out?

[Ninja]

Potentially not. Though I imagine it might be if you were to end up positive for one or more of the celiac genes! A shot in the dark, kinda. Even so, if you have the resources and would prefer to avoid going through a doctor (which it sounds like), I would encourage you to get it done: it could end up being an important piece of the puzzle.