Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2026
General Population Screening For Celiac Disease: A Scoping Review of Evidence, Outcomes, and Implementation.
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Meijer-Boekel Caroline R, Stahl Marisa G, Absah Imad, Catassi Carlo, Kivelä Laura, Kurppa Kalle, Leonard Maureen M, Lionetti Elena, Mearin M Luisa, Rodriquez Virginia, Scherman Maria Naredi, Liu Edwin, Agardh Daniel
Аннотация
BACKGROUND AND AIMS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.