Thursday, September 18, 2008

Another Doctor Visit, Another Blood Test (And Wild Theory)

I had my quarterly visit today with the rheumatologist, who's getting a little frustrated because I'm what he called a "diagnostic puzzle." (I interrupted his conversation with his resident to say I'd call myself a "diagnostic nightmare." :)

He still has no answers. He wasn't impressed with my latest ANA results, which were 29, up from 19 (considered a low positive) last year. My internist felt it was significant as my "body declaring itself" to definitely have an autoimmune disease. The rheumatologist told me to tell her to stop running that test on me. :)

So we discussed all my recent blood tests, particularly the Vitamin D deficiency that's not improving significantly despite four months on a megadose of 50,000 IU per week. (A few weeks ago, my internist raised the dose to 50,000 IU once every five days, which is an annoying pattern to remember.) Also, my ferritin levels, which are my iron stores, are deficient and dropping every time I'm tested despite my taking iron supplements. (I recently doubled my dose of supplements, and my internist says if my ferritin levels don't begin to improve, she's going to send me to the hemotologist again and recommend IV iron. And I'd definitely prefer to avoid that.)

So, the rheumy says that with such a bad Vitamin D deficiency and unexplained iron deficiency (although I'm not anemic -- my red blood count is fine, as is my hemoglobin, although both are on the low end of normal) that perhaps it's time to test me for what he calls the trendy disease of our decade -- Celiac Disease. Apparently, 20 percent of people with celiac disease have joint pain like mine, and it could explain the iron and Vitamin D deficiencies, fatigue, etc.

Also, he said something to the resident about my MCV catching his attention previously, although he didn't explain to me what was unusual about it. If, like me, you have no idea what MCV is, here's the LabTestsOnline explanation:

Mean corpuscular volume (MCV) is a measurement of the average size of your RBCs. The MCV is elevated when your RBCs are larger than normal (macrocytic), for example in anemia caused by vitamin B12 deficiency. When the MCV is decreased, your RBCs are smaller than normal (microcytic) as is seen in iron deficiency anemia or thalassemias.

So I got tested today for Celiac Disease. The rheumy says it's highly unlikely -- in the past five years, he's had many, many people come to him having self-diagnosed Celiac Disease but he's had only one patient actually test positive for it. And I told him I sure hoped he was right because I love bread and there's gluten in almost everything in my diet other than fresh fruit, veggies and meat. I do not want the complication of having to go gluten-free.

But I'm happy to have the test run. What's another needle stick at this point? And it would be nice to tell the well-meaning folks who tell me that a gluten-free diet can cure anything that I've been checked out for it and really don't need to add that complication to my life. :) (And yes, I have had a surprising -- to me, at least -- number of people tell me that going gluten-free and dairy-free would absolutely cure me of whatever ails me. Of course, none of them have medical degrees or any other types of credentials other than being gluten-free and dairy-free themselves without having bothered with testing for Celiac Disease first.)

So I'll call next week to get the test results, and fully expect to hear that they came back normal. (I guess there's two tests to run for Celiac Disease and they ran both of them.)

And other than that, the rheumy says to just keep doing what I'm doing, treating symptoms and muddling through, and he believes eventually whatever my health problem is will prove itself. In the meantime, he insists that there's no benefit to a label, particularly since the easy ones he could give me -- fibromyalgia and chronic fatigue syndrome -- sometimes carry negative biases (in his opinion).

(Laurie Edwards of A Chronic Dose just happens to have blogged about labels and other semantics of the patient experience earlier this week. I encourage you to check out her post from Sept. 16. I'd give you a direct link to it, but for some reason I'm having trouble getting it. But do go read it! You don't have to scroll down very far to find it and it's worth the trouble, I promise.)


Jenn said...

I'm sorry that you feel as though Celiac disease is "trendy" and you can't be bothered to go gluten free. I would think that if it would help you feel better you'd be more open to to it. If you are chronically ill long enough you just may give it a try eventually! lol

There are actually five blood tests they can and should run. The first of which is a test for the genetic marker. Without it, you can never have CD.

A complete Celiac Blood Panel:

Antigliadin IgA and IgG
May indicate Non Celiac Gluten Sensitivity.

Anti-tissue Transglutaminase Antibody (tTG) IgA and Anti-endomysial
An indicator of villi damage [slight damage is not always detected].
These tests are highly specific to CD.
However, autoimmune diseases can skew the results of these tests

University of Chicago CD Center wrote:
It is important to note that some people with Type 1 Diabetes, Hashimoto’s thyroiditis and autoimmune liver conditions can have a falsely positive tissue transglutaminase test. For this reason, it is important that tTG test results in people with these conditions be checked with the EMA test. The physician may nevertheless want to obtain an intestinal biopsy if clinically indicated, even if EMA are negative.

Total serum IgA
Rules out IgA deficiency. This must be run to ensure proper IgA test results

Anti-reticulin IgA
Rarely used but, a very thorough doctor will include this

The gold standard for testing for CD is a biopsy of the small intestine. 8 to 10 samples should be taken as CD damage won't necessarily smoothly "coat" the intestine but will damage in "spots". It's important that enough samples are taken to make sure to catch one of those damaged areas to get the positive dx.

Also if you're in the early stages of CD you may not test positive for CD but could still have the more vague gluten sensitivity.

At any rate there is a lot of support offered to celiacs in the PDX area and once you adjust to the diet it's actually quite easy to live a gluten free lifestyle. I hope you get back to good health soon regardless of weather or not your definitive dx is Celiac or not. I hope they can figure it out.

To good health,

Aviva said...

hi Jenn,

Um, first of all, it was my rheumy who declared Celiac Disease to be "trendy," not me. I'm sorry if that wasn't clear. And I absolutely will go gluten-free if the tests suggest that I have Celiac Disease.

What I'm skeptical about is all the people who claim gluten-free diets can cure ... well, just about anything. For example, I really don't buy into the claims that a gluten-free diet can cure autism as certain celebrities claim. If scientific studies come back and say it's true, I will completely accept it and eat my words. I have no problem with that.

And I do accept that some people do feel better on a gluten-free diet despite not having Celiac Disease as diagnosed by an MD. But I don't think there's really medically proven link between gluten free diets and improvements in lupus, fibromyalgia, chronic fatigue, etc.

Anyway, I appreciate the education in how CD actually gets diagnosed. I feel like a dope for not finding out exactly what blood tests the rheumy ran, but I guess I'll find out in a few days when I get the results. He did tell me that if the tests came back positive, the next step would be the biopsies of the small intestine before a definite CD diagnosis would be made.

Anyway, I do apologize if my original post was so poorly written that it was offensive. I have two people in my life that I consider family who have CD and I know it's absolutely a real medical problem. I'm just not convinced it's *my* medical problem. Although I guess I'll have a better idea of whether or not my intuition is correct in a few days when I find out if I need further testing.

Joan said...

Hi Ladies,

To be fair, in many ways I understand why the doctor felt - and many in the general public - think celiac disease is "trendy." Our doctors are not well-schooled on the subject and it is highly underdiagnosed in the US.

Jenn, you laid out a wonderful outline of the ideal way to screen for CD. One thing you left out is my area of specialty: Down syndrome. It seems that folks with trisomy 21 do have the genetic marker for CD regardless of family history. So being able to get the right tests to diagnose is important.

Aviva, in reading your post, he may well be right. Many of the common nutrient deficiencies that are coming to light regarding celiac disease are Vitamin D deficiency and anemia. And you konw those dark circles? That's another. Andy's went away after he was diagnosed. Another common first sign is lactose intolerance - how's that going?

But back to the "trendy" thing. I think the other issue is that it's not **celiac disease** that is "trendy" (though to a doctor that is what they might presume), it's being "wheat free and dairy free" that's "trendy." There are many people who use a wheat free diet as a way of life without a substantive reason. But if they feel better, it's a perfectly safe diet, so *I* don't care! And..if it makes gluten-free products easy to find....ALL THE BETTER.

So, I think both views are actually accurate, depending on the point of view.

Keep up the diligence in spreading the word about accuracy in the testing procedure Jenn. It makes a world of difference to get it right the first time.

(Mother of Andy, who has Down syndrdome, autism, and celiac disease - and we got left out of the blog! :)

Aviva said...

Thanks for chiming in, Joan!

And yes, you explained the trendy part exactly. Thanks. :)

And fwiw, Andy was one of the people I was thinking of when I said there were two people in my life that i consider family who have CD. So you guys weren't left out of the post entirely! :)

And huh, yeah, I *am* rather lactose intolerant. And I have been for such a long time that I don't even think of mentioning that to docs when we go through all my symptoms. And you know I have those dark circles! So maybe it's not such a long shot for me to get tested for CD after all ...

But I guess the part that I still don't quite get is shouldn't I have lost weight if I have CD? I mean, I might be having trouble with a few nutrients despite the megadoses of supplements I've been put on by doctors, but clearly I'm absorbing plenty of calories because I'm fat! I thought unexplained weight loss was a sign -- or is that just in little kids, who sometimes get labeled as failure to thrive or falling off their growth chart curve for weight?

Clearly there's a lot I've got to learn about celiac disease if that's what I turn out to have. I'm glad you're right next door, Joan, and that PDX has a group like Jenn's.