General Population Screening For Celiac Disease: A Scoping Review of Evidence, Outcomes, and Implementation

Early diagnosis of celiac disease (CeD) through general population screening remains controversial. This review summarizes the remaining evidence gaps limiting implementation of population-based screening for CeD.

A scoping review was conducted in accordance with the PRISMA-ScR. PubMed was searched for literature related to CeD-screening published up to April 18, 2025. Twelve paired reviewers independently screened selected abstracts and assessed full texts. Included articles were then categorized by primary outcome and summarized descriptively.

Of 2,014 abstracts, 172 full-text articles were included with 12 identified outside of the search. Population-based studies indicate that CeD is common yet markedly underdiagnosed, with screening identifying 60-75% of cases not detected by routine clinical practice. Most affected individuals lack clinical features or known affected family members, highlighting the limitation of symptom-driven and targeted screening strategies. Screening-identified individuals benefit from earlier diagnosis with improved health outcomes and quality of life, at the risk of decreased dietary adherence and reduced social functioning. Case-finding, targeted screening, and population-based screening each offer different trade-offs with respect to acceptability, cost, and detection rates. Health economic analyses demonstrate that both case-finding and general population screening can be cost effective, although the magnitude is impacted by diagnostic delay and associated modeled complications.

Current evidence supports potential value of general population screening for CeD. Concerns for health system capacity, cost and management of individuals identified through screening continue to limit consideration of population-based screening for CeD. Implementation studies evaluating real-world outcomes from screening, are essential to address these evidence gaps.