Primary hypertriglyceridemia in children with familial chylomicronemia syndrome

Jumantan, Dewi
Widowati, Titis
Hidayati, Irma Sri
Prawirohartono, Endy P.

Paediatrica Indonesiana
Vol. 64 No. 6 (2024): November 2024

Hypertriglyceridemia can be caused by primary (genetic) or secondary etiology. One of the primary causes is hyperlipoproteinemia type I or known as familial chylomicronemia syndrome. Familial chylomicronemia syndrome is a rare autosomal recessive disease that occurs in 1-2 per 1,000,000 people, with specific characteristic signs, namely severe increment of fasting plasma triglyceride up to 100 times the normal value (about 1500-15,000 mg/dl) caused by lipoprotein lipase (LPL) mutation.