Gluten Sensitivity/Celiac Disease

The problem here is that we define a complex autoimmune disease spectrum by a traditional and end-stage histologic finding. Better tools are on the way… There is a spectrum of gluten intolerant disorders. I vote that she has gluten intolerance which is also called celiac syndrome. Treatment is a gluten free diet. Only the top 30% of gluten intolerant people meet the criteria of celiac disease with positive blood work and biopsy. The other 70% are not able to be diagnosed by current criteria but definitely have gluten intolerance or celiac syndrome.
If you have villous blunting on a small bowel biopsy and positive anti TTG the diagnosis is obvious. But what if you have a Marsh stage 1 or 2 on biopsy with negative TTG? Patient has a variety of symptoms that do not resolve except on a gluten free diet. Is it celiac or not? At what stage of the Marsh histologic classification do we see positive TTG ? We have several dozen patients in this situation. Repeat biopsies revert to Marsh 0 (normal), on gluten free diet. Genetics (HLA-typing) have been consistent with moderate to high risk (Prometheus Labs) . Are we missing a lot of celiacs waiting for positive TTG? Literature suggests average 11 years to diagnosis of celiac.
Second, please request and review the small bowel biopsy report and the lab report. The biopsies should be from the small bowel and not just the duodenum, and there should be at least 6 biopsies (some Path labs report numbers greater than 6 to 10 as multiple). Sampling errors can and do occur. When checking serology, be sure that IgA was also ordered and was normal. Many Celiac patients have IgA deficiency, and hence cannot make IgA antibody, and their Endomysial or Gliadin Ab would of course be low/normal.
Third, be sure that the patient was on a high gluten diet (non-restricted diet) for at least 4 days prior to blood tests and endoscopy/biopsy, and of course also before Video Capsule Endoscopy.
Fourth, sometimes we simply have to resort to a therapeutic trial of gluten free diet. When it is effective and therapeutic the patient will be quite compliant. HLA-Antigens associated with Celiac disease : HLA-DQ2 in 90-95 % of the cases. HLA-DQ8 in 5-10 % of cases. HLA typing is most helpful if negative for these haplotypes, which would make celiac disease very unlikely. It is important to note that 40% of so of the US population of Northern Euro extraction will be positive for these alleles, yet only a small fraction will develop celiac disease. Agree with other posts to always check IgA if you check serology because IgA deficiency is 10 times higher in celiac disease than normal population. Also beware of some pathologists. I am catching some pathologists reading patchy Marsh 1 lesions as “normal”. Only when I have gone back and discussed it with them specifically do they show me that there was actually an abnormality. And for pathologists out there…yes I do send a copy of my endoscopy report, with pictures, with the specimen stating that I am looking for celiac disease.
I do not place patients on a gluten free diet without some objective evidence (which may be as minimal as a positive DQ2/DQ8). A number of people without celiac disease may feel better on a restrictive diet, but I suspect for a lot of them it’s because their diet is now healthier. I have seen a lot of this and found out that it’s the lack of processed and junk foods rather than the lack of gluten that works for them. Just something to think about.

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