Primary hypertriglyceridemia in children with familial chylomicronemia syndrome

Hypertriglyceridemia can be caused by primary (genetic) or secondary etiology. One of the primary causes is hyperlipo-proteinemia type I or known as familial chylomicronemia syndrome. Familial chylomicronemia syndrome is a rare au-tosomal recessive disease that occurs in 1-2 per 1,000,000 people, with specific characteristic signs, namely severe incre-ment of fasting plasma triglyceride up to 100 times the normal value (about 1500-15,000 mg/dL) caused by lipoprotein lipase (LPL) mutation. © 2024, Indonesian Pediatric Society Publishing House. All rights reserved.