5 Detection Strategies for Celiac Disease

Digestive Disease Week (DDW) 2018

William F. Balistreri, MD


July 30, 2018

Studies presented at this year's Digestive Disease Week addressed one current challenge regarding celiac disease (CD): reliable, cost-effective detection.

To Screen or Not to Screen?

The US Preventive Services Task Force recently concluded that "the current evidence is insufficient to assess the balance of benefits and harms of screening for celiac disease in asymptomatic persons."[1]

While the evidence may not support general population screening for CD, an important question is whether there is evidence to support or refute screening in selected populations, especially in children, given the long-term impact of untreated disease.

To help address this issue, Gallant and colleagues[2] reported preliminary results of the Autoimmunity Screening for Kids (ASK) study, a study designed to screen 50,000 children for CD from the general population of the Denver metro area. They presented results from the initial screenings (approximately 4500 children).

Overall, 3% of the children were found to be positive for transglutaminase autoantibody (TGA); most screen-detected children were asymptomatic. Symptoms of potential CD were reported in about 30% of both TGA-positive and TGA-negative children.

The initial results of this ongoing mass-screening program indicate a high prevalence of undiagnosed celiac autoimmunity in the general pediatric population. We look forward to the full results of this study, which will include cost estimates and potential risks and benefits, to help inform evidence-based recommendations. This also will hopefully address the question of whether to target or prioritize specific populations.

The Role of HLA Testing in Stratification

To provide insight into prioritization strategies, Gallant and colleagues[3] tested the hypothesis that the population frequency of human leukocyte antigen (HLA), a major genetic risk factor for CD, could be used to estimate the regional incidence.

Data obtained from annual screening of 6798 HLA-typed children followed from birth in The Environmental Determinants of Diabetes in the Young (TEDDY) international study were used to determine cumulative risks. Sweden had the highest cumulative incidence of CD (2.1%) and celiac disease autoimmunity (CDA) (6.8%). Both Finland and Germany had a cumulative incidence of CD and CDA of 1.8% and 5.9%, respectively. In the United States, the cumulative incidence of CD and CDA was 1.8% and 5.0%, respectively, higher than past estimates. Homozygosity for HLA-DQ2 conferred the highest risk for CD and CDA.

These data may also help in the construction of a structured, stratified case-finding strategy.


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