the patient celiac

Seminar in Celiac Disease Overview

0 comments August 17, 2017

I was so pleased to learn that Celiac Disease is the topic of a seminar in the Lancet, which is one of the world’s leading medical journals, because thousands of doctors will read it and be able to learn about celiac disease from it. It was written by Drs. Benjamin Lebwohl (U.S.), David Sanders (U.K.), and Peter Green (U.S.)

It included some important points that I thought were worth sharing:

-The authors reiterate that almost all people with celiac disease have at least one of the celiac genes, which are HLA-DQ2 and HLA-DQ8. There are cases of celiac in which people will test negative for the genes, because some people who get celiac disease only have HALF of the HLA-DQ2 gene, which does not often show up on the genetic testing. 

-The latest recommendations for introducing gluten to an infant for the first time is between the age of 4 months and 12 months. They recommend that after gluten is introduced for the first time that large amounts of gluten be avoided in the following weeks. 

-Risk factors for the development of celiac disease include gastrointestinal infections (rotavirus in children and campylobacter in adults), antibiotic use and proton pump inhibitor (PPI) use. PPIs are a class of medications used to treat gastroesophageal reflux, including Prevacid and Prilosec. 

-Celiac disease effects 1% of the population, but the incidence is higher in certain groups, i.e. it is 3% in descendants from the Punjab region of northern India.

-The percentage of people with celiac disease who are diagnosed is definitely increasing.  In 2009 more than 80% of people with celiac disease were not diagnosed but the percentage of undiagnosed dropped to less than 50% in 2013-2014. 

-Celiac disease testing should be considered in patients with all of the following:
    -metabolic bone disorders
    -unexplained neurological symptoms, such as peripheral neuropathy and ataxia
    -unexplained infertility or recurrent miscarriage(s)
    -elevated liver enzymes without any known cause
    -dental enamel defects
    -Down’s syndrome and Turner syndrome

-Between 2 and 15% percent of people with celiac have seronegative celiac disease, which means that their celiac antibodies (i.e. TTG IgA) are not elevated but villous blunting is seen on intestinal biopsy. Interestingly enough, seronegative celiac is often seen in the more chronic and severe cases of celiac--this is because the TTG-IgA antibodies are so tightly bound to the damaged intestinal tissue that they do not circulate in the bloodstream!

-The majority of people with celiac will have an abnormal duodenal biopsy after a 2-week gluten challenge, but it can take up to 28 days of eating gluten for celiac antibodies to increase in the bloodstream.

-Between 5 to 13% of patients with celiac will have missed diagnoses due to their intestinal biopsies being done incorrectly. So, a negative biopsy does not always mean that one does not have celiac disease!

-About 20% of people with celiac disease will have persistent symptoms, even after going on a GF diet.  The most common cause of persistent symptoms is accidental gluten exposure.  Other causes of persistent symptoms include irritable bowel syndrome, microscopic colitis, lactose or fructose intolerance, pancreatic insufficiency, and small intestinal bacterial overgrowth.


This article reminded me how difficult a celiac diagnosis can be, especially as people can have celiac even though they test negative on genetic testing (due to having only half of the DQ2 gene), they may have seronegative celiac, and intestinal biopsies are sometimes done incorrectly.  This means that if you suspect that you or a loved one has celiac that it’s entirely possible that it is present, even if testing is negative.  I am a strong advocate of repeating testing in those who have symptoms, if financially and logistically feasible, to prevent a delay in diagnosis, the development of celiac-related complications, and for periodic screening of family members.

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