Prevalence and Risk Factors of Metabolic-Associated Fatty Liver Disease in Children with Down Syndrome at a Tertiary Care Center

<b>Background:</b> The global rise of metabolic-associated fatty liver disease (MAFLD) in children is particularly concerning in high-risk groups such as those with Down Syndrome (DS), who have an elevated risk of obesity and insulin resistance. Despite increasing recognition of MAFLD in pediatric populations, data on its prevalence and risk factors among children with DS in Canada remain limited. <b>Method:</b> This retrospective study reviewed medical records of children with DS at the CHEO Down Syndrome Clinic (2013-2023). A diagnosis of MAFLD required evidence of hepatic steatosis on imaging, lab markers, or biopsy, along with the presence of metabolic risk features. Demographic, laboratory, and diagnostic data were analyzed. <b>Results:</b> Among 503 children with DS (231 females, 271 males; median age: 172 months), 54 (10.7%) had MAFLD. The MAFLD group was older (median age: 205 vs. 163 months, <i>p</i> = 0.0002) and had higher BMI (31.39 vs. 20.5, <i>p</i> < 0.0001). Most cases (47/54) were diagnosed via ultrasound, and 49/54 met MAFLD criteria due to excessive adiposity. Lab results showed a median ALT of 35 U/L, triglycerides of 4.4 mmol/L, and LDL cholesterol of 2.59 mmol/L. FibroScan in 13 children revealed a median transient elastography of 5.3 kPa. BMI was the strongest predictor of MAFLD (OR: 1.2, 95% CI: 1.1-1.2). <b>Conclusions:</b> The DS clinic-based prevalence of MAFLD underscores the need for proactive screening and early intervention. BMI was the strongest predictor, emphasizing targeted management strategies. Further research is needed to refine diagnostic approaches and improve outcomes.