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Return to ->Ask the Doctor->Tests and Their Results

QUESTION: I am a 37 year old female with asthma, diabetes, high blood pressure, high cholesterol, and proteinuria. I was also diagnosed 5 years ago with celiac disease by blood work and a positive biopsy. I have not done the diet in about 4 1/2 years. My primary care doctor has always asked me if I am doing the diet and he asks me if I have any symptoms (which I do not) and he requested I go see my gastroenterology doctor again. I did a few months back. I told my gastroenterology doctor that I did not feel convinced that I had celiac disease and he told me he thought I was in denial. Although, he did order blood work a couple of months ago and the blood work came back totally normal (no vitamin deficiencies and negative for celiac disease). After seeing the results he felt it was necessary for me to have another biopsy which I did in Oct of this year. The report from the pathologist read mild celiac disease or treated celiac disease. Obviously, it's not treated celiac disease and I have never heard of mild celiac disease before. I then went to another pathologist who reviewed the slides from my first biopsy and my second (most recent biopsy). He does not think I have celiac disease at all. He felt that the biopsy, although not completely normal, but definitely not celiac disease. I do have diabetes (an autoimmune disease). My most recent biopsy also showed that my esophagus was inflamed, along with my throat which came back that I had a fungus infection. (Probably due to the medicine Advair (medicine for asthma) that I inhale down my throat, I have had thrush in the past from this). With respect to my esophagus being inflamed I have no idea why, I have been on Nexium for 2 years for acid reflux. The next step I was told to do, was a gene test, which we did a couple of weeks ago. The results came back as negative for DQ8 and positive for DQ2. This pathologist feels that he is still not convinced that I have celiac disease. Due to that test coming back as it did, it was basically useless because this genetic test is only of value if it is negative; therefore, ruling out Celiac Disease. If you can help me with any information, or input regarding this matter I would really appreciate it. Maybe you have heard of other patients with the same problem? I have so many unanswered questions.
DR. FINE: All the information you give could be consistent with celiac disease (a milder pathologic form with respect to villous atrophy) or a mild pathologic lesion possibly due to bacterial overgrowth or other intestinal inflammatory condition. Frankly, this confusion is not uncommon and why biopsies and blood tests are often inconclusive for these "milder inflammatory forms of gluten sensitivity. Celiac disease simply means that the reaction to gluten in the presence of DQ2 or DQ8 has caused villous atrophy but in these milder enteropathic forms, blood tests are commonly negative. This is why I have pursued more sensitive and earlier to be positive tests of stool which detects antibodies to gluten inside the intestine, long before they may appear in blood. These tests are available at www.enterolab.com and this is truly what I recommend (I never use this forum to promote my lab but this is the fact).

The only caveat I would add is if that years ago if your blood tests were positive for antibodies to gliadin or tissue transglutaminase or endomysium, then that first biopsy was indeed celiac disease in its milder pathologic form (Marsh class 1 or 2).