DOI: 10.36347/sasjm.2020.v06i11.004

Pages: 224-227

Familial Chylomicronemia was formerly known as type 1 hyperlipoproteinemia, it is a type of severe hypertriglyceridemia characterized by the accumulation of chylomicrons in fasting plasma. Chylomicrons in a patient with health are responsible for carrying the absorbed Triglycerides (TG) into tissues via the activation of Lipoprotein Lipase (LPL) by Apo CII, thus causing the TG to be stored. In cases of Chylomicronemia, the TG is not carried into the tissue and stored thus increasing the level of Chylomicron carrying TG in plasma. This disease has a prevalence of 1 in 1 million for homozygotes and 1 in 500 for heterozygote. The most common mutations are found in the genes LPL, ApoA5, GPIHBP1, and ApoC2 among others. Loss-of-function mutation in these genes renders the LPL-dependent pathway inefficient [1].