Role of lipoprotein lipase activity measurement in the diagnosis of familial chylomicronemia syndrome

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive genetic disorder (ORPHA:444490) of chylomicron metabolism 1 that results in severe hypertriglyceridemia (sHTG) and recurrent episodes of acute pancreatitis attacks 2, due to very low or even absent lipoprotein lipase (LPL) activity 3. FCS-related genes are the LPL gene per se, and those affecting the correct folding and migration/location of LPL, such as the lipase maturation factor 1 (LMF1) and glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1), respectively.

Source: Journal of Clinical Lipidology - January 25, 2023 Category: Lipidology Authors: Jos é Rioja, María José Ariza, María José Benítez-Toledo, Javier Espíldora-Hernández, Inmaculada Coca-Prieto, Teresa Arrobas-Velilla, Ana Camacho, Gunilla Olivecrona, Miguel Ángel Sánchez-Chaparro, Pedro Valdivielso Source Type: research