小児セリアック病スクリーニング：複数の遺伝子検査および血清学的検査アプローチの費用対効果

Celiac disease is severely underdiagnosed, and many identified patients suffer from a long diagnostic delay. Population-based screening could improve this under-recognition, but its practical implementation remains unclear. We studied the most cost-effective screening strategy for celiac disease in childhood.

A Markov model using primarily Swedish data was developed for comparing the cost-effectiveness of various scenarios. Key considerations included serological testing across ages 3-18, single-time vs. repeated screening, and preliminary genetic testing to identify the at-risk population. Outcomes of the resulting 272 strategies were compared against a no-screening alternative using the incremental cost-effectiveness ratio. Sensitivity analysis was conducted at a €20,000 willingness to pay threshold to determine key factors influencing the optimal screening age(s) and conditions where repeated screening would be preferred.

Untargeted single-time screening was more cost-effective than repeated screening or the combined use of genetic testing in the default scenario. Single-time screening was most cost-effective at age 11 (95% CI 10-14), and repeated screening at ages 4 and 11. Repeated screening was preferred if prevalence of celiac disease at age 12 was ≥5%, diagnosis improved quality of life for asymptomatic patients, screening costs were halved, or a willingness to pay of €50,000 per quality-adjusted life year was adopted. Diagnostic delay was the key factor influencing the optimal screening age(s).

The most cost-effective screening strategy for celiac disease was single-time untargeted serological testing at age 11. The optimal approach is affected by regional factors and may evolve with new evidence. Repeated screening may be preferable for high-risk groups and with high willingness to pay.