Celiac Disease Screening for High-Risk Groups: Are We Doing It Right?

Dig Dis Sci. 2020 Jun 5. doi: 10.1007/s10620-020-06352-w. Online ahead of print.


Celiac disease (CD) is an immune-mediated enteropathy triggered by dietary ingestion of gluten in genetically susceptible patients. CD is often diagnosed by a "case-finding" approach of symptomatic patients. In recent times, the diagnostic paradigm has shifted to investigate patients who may be asymptomatic, but are at high risk of developing CD due to shared genetic susceptibilities. These high-risk groups include first-degree relatives of CD patients and patients with Type 1 diabetes mellitus, autoimmune thyroid disease, Down's syndrome, and Turner syndrome. Moreover, CD is often diagnosed as the cause of iron deficiency anemia or unexplained chronic diarrhea. Although screening for CD with serological tests is not recommended for the general population, it should be considered in these special populations. In this review, we explore screening for CD among high-risk groups in light of recent research and development in the CD arena.

Keywords: Anti-tissue transglutaminase; Autoimmune thyroid disease; Celiac disease; First-degree relatives; High-risk populations; Iron deficiency anemia; Screening; Serology; Type 1 diabetes mellitus.

Publication types

  • Review