Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature

Familial chylomicronemia syndrome (FCS) caused by mutations of lipoprotein lipase (LPL) gene and other triglyceride-rich lipoprotein genes related with catabolism is an autosomal recessive rare disease. Herein, we report an infant with FCS and review the relevant literature. The proband is a male infant with FCS for which the whole-exome sequencing (WES), sanger sequencing and copy number variation (CNV) based on WES were performed. Compound heterozygous mutations (LPL gene c.1322+1G>C and loss in exons 8 to 10) were found in the LPL gene of the proband, the c.1322+1G>C mutation was inherited from his father with the heterozygous mutation, and the deletion of exons 8–10 due to CNVs was inherited from his mother. Carriers of heterozygous mutation or heterozygous deletion in LPL may have normal plasma lipids or develop FCS. Plasma lipids management of FCS in infancy should focus on the diet and adopt an individualized management.