Newly Diagnosed?

[Merriweather]

My blood tests came back positive and my biopsy showed an increase in immune cells in my small intestine but no vilious atrophy. According to my doctor I have celiac disease but based on information I've been reading there seems to be conflicting opinions about a diagnosis without vilious atrophy. Does anyone have more information about this?

[rosetapper23]

Yes, one of the leading experts on celiac disease, Dr. Alessio Fassano, believes that a positive endoscopic biopsy should no longer be considered the gold standard for diagnosing celiac disease. If your bloodwork was positive, you can be certain that you have celiac disease (false positives are rare). Be thankful that your celiac was diagnosed before too much damage occurred.

[Merriweather]

Thanks for your feedback. I've been struggling with IBS for 15 plus years and was happy to finally have some answers besides doctors just telling me I have IBS. I didn't realize how confusing the diagnosis process is....I just wonder if a different GI dr. looked at my biopsy results would he/she have a different diaganosis?

[rosetapper23]

Actually, Dr. Fasano cites a number of things that can skew a biopsy: 1) the scope wasn't long enough to reach the damaged area, 2) the surgeon was not skilled enough at taking samples, 3) the pathologist lacked the skill or competence to diagnose celiac, 4) even if a large number of samples were biopsied, it's possible that the surgeon did not biopsy the areas with villous atrophy, and 5) probably a number of other factors that I can't remember. From a study I read recently, the chances of getting a correctly sampled and read biopsy at a standard clinic or hospital are pretty low but accuracy increases at teaching hospitals and universities. There are so many variables that can go wrong, biopsies can be pretty much worthless.

[Merriweather]

As a follow up, I met with my primary care doctor this week and according to her, my diagnosis is not a "slam dunk", meaning all test results "suggest celiac disease" due to the positive blood work and increase of intraepithelial lymphocytes from my biopsy, but because there's no vilous atrophy it's not a diagnosis of 100%. Even though other autoimmune diseases were ruled out, I have onogoing GI issues and a history of vitamin deficiences and low iron. This all confuses me even more so because when my GI doc gave me the results he said that I definitely have celiac disease, even when I questioned that the biopsy results only showed an increase in IELs. It just seems like there are many differing opinions on this. Do others have the same confusion I'm experiencing? I guess I'm going with what my GI doctor said, but I still have some doubts due to the biopsy result. I've had horrible GI symptoms for many years, so shouldn't this have been reflected in the amount damage to my small intestine?

[mushroom]

The increase in IEL's is one of the precursors to villous atrophy. Inflammation is another. There are varying stages in the progression of intestinal damage. The old standard required for total or subtotal villous atrophy, the equivalent of III on the Marsh scale of I - IV before they would diagnose. Doctors seem a little more enlightened these days and realize that you don't have to wait until somebody is really damaged that badly to make a diagnosis. I would go with your GI's opinion rather your PCP since he has more experience in such things.

[Takala]

I've had horrible GI symptoms for many years, so shouldn't this have been reflected in the amount damage to my small intestine?

Not necessarily, as strange as it may seem. The intestines are quite long and the damage is patchy.... they are looking for the atrophy in the haystack, so to speak. Plus, you can be reacting to different foods in addition to gluten - and some or all of this may go away after going gluten free, or sometimes one discovers additional intolerances. People may think they can't digest fats, when in reality, their livers and gall bladders are very wonky from consuming gluten. Eliminate gluten, and the ability to digest some fats may return. People may have a lot of trouble digesting any sort of starch derived from non gluten grains, either temporarily or permanently. I had no idea flax would do a number on me, until I kept running into gluten free baked goods with that as an ingredient. There was no reason for me to eat flax in the first place, I had tasted it and thought "nasty, bitter." Yet a lot of recipes have it, and I can tell people how to use it as an egg substitute, just leave it out of my food, thank you. Other ingredients which can disagree with celiacs/gluten intolerants include soy flours and the lactose in dairy products.

Fine tuning the gluten free diet can take awhile sorting out what does and does not agree with you at first.

I was not "confused" as I knew "for sure" I had a food problem, it was the medical profession which was being contradictory - it has been over a decade since I started to try getting diagnosed ( !!! ), I've done enough experimenting on my diet that I know, and I have had atypical symptoms for most of my adult life. Eventually, I had a brain scan which showed bright spots. I still do not "officially" have my disease, but the other problem was that we moved cross country in the late '90's and went into a different form of insurance... I think my old GP in the former state, who was very sharp, may have eventually caught this, but I was rather shocked at some of the deliberately incompetent responses I had when taking my other auto immune issues first into the HMO - these so called non profit orgs are nothing but rip offs. Good riddance. Current GP/PCP accepts that at least I am gluten intolerant because of the mysterious way I now been "cured" of several other problems since the Diet Change.

[rosetapper23]

Your primary doctor is obviously not an expert on celiac, so I would disregard what she has said. Because there are so very few "experts" on this disease, you can pretty much take it to the bank when someone like Dr. Fasano says that a biopsy is not necessary. He's tried to convince many a doctor that the old gold standard simply no longer applies. If you have symptoms that resolve on a gluten-free diet, positive bloodwork, and positive genes, you do NOT even need to have a biopsy. Since your biopsy showed something amiss, I don't see how there could be any question that you have celiac disease.

I know it's confusing...but it's the doctors who are confused.

[faithforlife]

Biopsies in our families were similar. But our GI says even if it's the beginning if celiac, it's still celiac. Our bloodwork and genetic testing is enough to verify. And how we feel gluten-free. But I still struggle with doubts it's more emotional. I have to work through letting it sink in. It's only been a year since we began the process of testing etc.

[Skylark]

As a follow up, I met with my primary care doctor this week and according to her, my diagnosis is not a "slam dunk", meaning all test results "suggest celiac disease" due to the positive blood work and increase of intraepithelial lymphocytes from my biopsy, but because there's no vilous atrophy it's not a diagnosis of 100%. Even though other autoimmune diseases were ruled out, I have onogoing GI issues and a history of vitamin deficiences and low iron. This all confuses me even more so because when my GI doc gave me the results he said that I definitely have celiac disease, even when I questioned that the biopsy results only showed an increase in IELs. It just seems like there are many differing opinions on this. Do others have the same confusion I'm experiencing? I guess I'm going with what my GI doctor said, but I still have some doubts due to the biopsy result. I've had horrible GI symptoms for many years, so shouldn't this have been reflected in the amount damage to my small intestine?

Did you ask your primary care doctor just how sick you have to get before she'll stop practicing poor medicine and diagnose you? I mean really, does she want you to wait until you have total villous atrophy? You are very fortunate to have a GI who is reading the latest research. Increased IEL is the first phase of celiac disease and the latest thinking is that positive bloodwork plus increased IEL is definitely celiac disease.

[Merriweather]

Thanks for all your feedback....everyone here is so helpful!

I got a copy of my pathology report with the following:

Duodenum biopsy: duodenal mucosa with normal villous architecture and increased intaepithelial lymphocytes. See note.

Note: Villous architecture is essentially preserved. The differential diagnosis includes gluten sensitivity or family history of gluten sensitivity, tropicalsprue, post viral gastroenteritis, bacterial overgrowth, allergy to other antigens and immunodeficiency syndromes (CVID, IgA defiency) these features have also been described in patients with a history of crohn's disease (Modern Path 2002).

When I talked to my GI doctor he said that based on my positive tTG and biopsy results I definitely have celiac. I'm just confused with this path report because the note doesn't really clarify a diagnosis....any thoughts?

[kareng]

Looks like you got lucky and were diagnosed before too much damage was done. Also possible that they took 4 microscopic biospies of 16 feet of small intestine and missed the worst spots.

[Skylark]

I don't understand why you are fighting a celiac diagnosis so hard. Don't you want to be rid of the horrible GI symptoms? You have a chance to change everything here! Have you gone gluten-free? Are you feeling better? That will be the final proof for you, when years of GI symptoms melt away over the next few months.

Your GI is looking at the whole picture, symptoms, blood tests, early celiac biopsy. He's looking from the perspective of a doctor who has probably seen a lot of cases of celiac disease and he has obviously kept well up-to-date on the celiac research. Doctors don't diagnose on a single test; they take all the information before them into account.

[Merriweather]

@skylark - It might come across that I'm fighting the diagnosis, but I guess I was just hoping for more conclusive results from my biopsy - given the terrible GI symptoms I've had for years, I thought the biopsy would either show no damage or a lot oh damage, but maybe that's just my misunderstanding of all of this. I'm definitely going with the diagnosis from my GI doc and have been gluten free for a little over a week now. I've been feeling ok so far, but time will tell to see if there's an impact over time. My dr Tod me I can have IBS along with celiac, so we shall see if eating gluten free is the answer. I certainly hope so!!!

[Skylark]

@skylark - It might come across that I'm fighting the diagnosis, but I guess I was just hoping for more conclusive results from my biopsy - given the terrible GI symptoms I've had for years, I thought the biopsy would either show no damage or a lot oh damage, but maybe that's just my misunderstanding of all of this.

Let me put it in perspective. It's HARD to get positive results on celiac tests, even when you know gluten is half-killing you. There are people on this board who have paid $300 and up for alternative, unvalidated fecal tests or genetic testing their insurance wouldn't cover because their blood tests were negative and they KNEW they couldn't eat gluten.

Ten years ago, someone had to not only have antibodies, but chronic diarrhea, horrible villous atrophy, and be pretty much wasting away before they would be diagnosed as celiac. Celiac wouldn't even be suspected without massive weight loss from malabsorption because it was considered rare. Turns out what is rare is a Marsh 3 or 4 biopsy, not celiac disease. Lots of people like you stayed miserable because their doctors would say they didn't have celiac disease. Now doctors are diagnosing on antibodies and increased IEL because they've realized that developing villous atrophy can be a gradual process, and because people with earlier signs of celiac get dramatically healthier on a gluten-free diet. It's good medicine.

You do realize the epithelial lymphocytes are the ones that do the autoimmune celiac damage, right? That's a fairly new piece to the puzzle, figured out within the last five years or so. Your autoimmune antibodies have called natural killer cells to your intestine and they are there to attack your villi. It's only a matter of time before they do their work and you end up with a severe biopsy, but you don't want to go there.