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Current Under-Diagnosing of Celiac Disease May Be Rectified Through Serum Testing

A population-based screening study indicates that celiac disease is currently under-diagnosed. Study data suggests that the presence of serum tissue transglutaminase and endomysial autoantibodies is predictive of abnormalities indicative of celiac disease.
Markku Maki, M.D., Ph.D., of the University of Tampere, Finland and colleagues write that, "simple, noninvasive serologic tests may be an effective means of diagnosing celiac disease in children who had not previously been given a diagnosis of the disease."

Dr. Maki's team used serum samples, collected in 1994 for a study of type 1 diabetes risk factors in schoolchildren ranging in age from 7 to 16 years, to test, in 2001, for endomysial and tissue transglutaminase antibodies. Of the 3654 samples tested 3651 were concordant. Fifty-six samples (1.5%) were positive for antibodies.

When the serum samples were collected in 1994, none of the children had received a clinical diagnosis of celiac disease. However, by the time the serum tests were completed in 2001, 10 of those who had positive serum tests for both antibodies had been clinically diagnosed, between 1994 and 2001, with celiac disease. Thirty-six of the remaining individuals with positive antibody assays agreed to undergo biopsy and of these, 27 had evidence of celiac disease.

The estimated prevalence of biopsy-proven celiac disease in this population was 1 case in 99 children.

When the investigators analysed the results of the HLA typing also performed on the serum samples, they found that most antibody-positive subjects carried the HLA-DQ2 or DQ8 molecules that are characteristic of celiac disease. The combination presence of antibody positivity and the HLA haplotype associated with the disease indicated a prevalence of celiac disease in 1 out of 67 of the study population.

Dr. Maki and colleagues surmise, "that these assays are a reliable and simple means of screening children for clinically silent celiac disease and genetically inherited gluten intolerance before symptoms or signs of chronic malabsorption develop."

In a related editorial Alessio Fasano, M.D. of the University of Maryland School of Medicine, in Baltimore, the United States, suggests that who should be screened for celiac disease is perhaps the most controversial issue raised by Dr. Maki's group.

Dr. Fasano notes that, "the prevalence of the disease and the burden of the illness related to this condition, particularly if it is not treated, are so high as to potentially support a policy of screening of the general population." He indicates, however, that screening the general population for celiac disease needs to be justified through comprehensive, well-performed cost-effectiveness analyses.
Dr. Fasano recommends that the current best approach to the diagnosis of celiac disease is to target those patients with symptoms or conditions associated with the disease.

Related Link: Celiac Disease — How to Handle a Clinical Chameleon (N Engl J Med 2003;348:25:2568-70).
N Engl J Med 2003;348:25:2517-24.

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