Clinical and Molecular Characterization of Two Novel LPL Variants in Familial Chylomicronemia Syndrome

Key Points

• This research aims to characterize two novel LPL variants found in individuals with familial chylomicronemia syndrome.
• Characterization of molecular variants of LPL
• Clinical assessment of affected individuals
• Analysis of genetic predispositions and pathways
• Identification of two novel LPL variants
• Enhanced understanding of genetic mechanisms in familial chylomicronemia syndrome
• Potential implications for targeted therapy