Celiac Disease - How much are we missing?

Review by Prof. Humphrey O'Connor (Ireland)

Study Summary 

Celiac disease (CeD) has a long-held reputation for remaining silent and undiagnosed, hence the "Celiac Iceberg." The true prevalence of CeD is difficult to gauge and how much actually remains undiagnosed yet causing ill-health and complications.  Two recent studies throw some light on this enigma. In an unselected population-based study of adults (aged>20yr) residents of Nord-Trondelag County, Norway, 2.0% (1107/54505) were tTG-positive and underwent clinical assessment. The total biopsy-confirmed prevalence of CeD was 1.5% and the ratio of new, undiagnosed cases to known diagnosed cases was 1.2:1. The prevalence of undetected CeD was higher in females and affected all age groups. The second study describes one-year follow-up of 42 children (1-17 yr) with CeD detected by the Autoimmunity Screening for Kids (ASK), a mass screening study in Colorado, US. Initially unrecognized symptoms, health-related quality of life, and iron deficiency all significantly improved from baseline to follow-up evaluation and families reported good or excellent adherence to gluten-free diet.

Commentary 

Despite proactive case-finding, as advocated by current international guidelines, at least 50% of CeD, based on the Norwegian findings, may remain undiagnosed. The alternative to case-finding in this setting is mass screening, but this is not currently recommended. Admittedly, the Who, When, and How, and Cost Benefit of mass screening for CeD are complex issues not settled as yet. Given increased detection of CeD and improved health outcomes for screen-detected patients, these two studies point the way forward and at least encourage the idea of mass screening for CeD.

Citation

Lukina P, Anderson IL, Klassen RA, et al. The prevalence and rate of undiagnosed celiac disease in an adult general population, the Trondelag Health study, Norway. Clin Gastroenterol Hepatol 2025;23: 1143-1151

Stahl MG, Pan Z, Germone M,et al. One-year outcomes among children identified with celiac disease through a mass screening program. Clin Gastroenterol Hepatol 2025;23: 1135-1142

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