Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis

Background: Lipoprotein lipase deficiency (LPLD) is an exceedingly rare autosomal recessive disorder characterized by severe hypertriglyceridemia and significant clinical complications, notably recurrent acute pancreatitis. Case Presentation: We present the detailed case of a Saudi girl who initially exhibited severe hypertriglyceridemia at 3 months old and received a genetic diagnosis at 8 months, confirming homozygous LPL deficiency (variant c.765_766del). Despite rigorous dietary management and medium-chain triglyceride supplementation, she experienced multiple episodes of necrotizing pancreatitis. Conclusion: This report underscores the essential role of early genetic confirmation, rigorous dietary management, multidisciplinary care, and explores emerging treatment strategies for LPLD.