Genetic Variants in Patients with Persistent, Severe Hypertriglyceridemia

Familial chylomicronemia syndrome (FCS), a rare, inherited form of severe hypertriglyceridemia (sHTG), is caused by lipoprotein lipase deficiency resulting from biallelic, pathogenic LPL gene variants with complete penetrance, or in genes integral to LPL activity. FCS causes fasting chylomicronemia with triglycerides>885 mg/dL, decreased LDL and HDL cholesterol, plasma lactescence, hepatosplenomegaly, lipemia retinalis, xanthomas, and life-threatening pancreatitis, and is often treatment refractory from childhood.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Genetic Disorders Source Type: research