Screening and diagnosis of metabolic dysfunction-associated steatotic liver disease in children within public healthcare

Abstract

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) has increased rapidly. NASPGHAN recommends screening children at risk for MASLD, but its implementation remains unclear. We explored the implementation of screening in healthcare. Methods: Data were collected from 908 children (median 11.4 years, 42.7% girls) investigated for overweight/obesity. Emphasis was placed on screening methods, diagnosis and potential secular changes. The diagnosis was confirmed retrospectively using novel criteria. Results: Investigations included measuring alanine aminotransferase (ALT) in 83.1%, ultrasonography in 9.1%, and no screening in 16.5%. Screening was conducted in 86.2% of children meeting the recommendations, but 69.3% of those not eligible, mostly due to young age, were also screened. Screening was more frequent in tertiary care. Overall, 87.9% were tested for metabolic comorbidities and 80.9% underwent differential diagnostics, with 5.7% having other liver-affecting diseases/medications. ALT testing increased in tertiary care from 81.9% in 2002-2011 to 91.4% in 2012-2020 (p < 0.001), and exclusion of liver-affecting conditions improved in both tertiary (79.6% vs. 87.4%, p = 0.017) and primary care (61.5% vs. 84.6%, p < 0.001). MASLD was diagnosed clinically in 7.4%, while 14.5% met the criteria retrospectively. Conclusions: MASLD screening practices are mostly aligned with the recommendations. However, many patients remain unrecognized, underscoring the need for better guidelines. Impact: In a large cohort of 3-17-year-old children investigated in healthcare due to obesity, implementation of MASLD screening largely aligned with current recommendations supporting general acceptance of screening. Screening was conducted in 86.2% of children meeting the NASPGHAN screening recommendations, while 87.9% were also tested for metabolic comorbidities, and 80.9% underwent differential diagnostics. MASLD was diagnosed clinically in 7.4%, while 14.5% met the criteria retrospectively, suggesting possible underdiagnosis. Compared to NASPGHAN guidelines, screening appeared excessive among younger children. Nevertheless, MASLD was also prevalent in this age group, indicating a need for further research to determine optimal age thresholds.