Rare metabolic process characterized by elevated chylomicrons in the fasting state resulting in a milky appearance to plasma, eruptive xanthomas, and hepatosplenomegaly.
Familial chylomicronemia syndrome is characterized by reduced or absent lipoprotein lipase activity.
Lipoprotein lipase mediates lipolysis of plasma triglycerides in chylomicrons and other triglyceride rich lipoproteins, and its absence leads to fasting and post prandial chylomicronemis with triglyceride levels 10-100 times normal.
Normal triglyceride level is 150 mg/dL.
Familial chylomicronemis syndrome is a result of the inactivating mutations in both alleles of the LPL gene or from mutations and other genes encoding proteins required for LPL activity such apolipoproteina C-II and A-5, glycosylphosphatidylinositol-anchored high density lipoprotein binding1 and lipase maturation factor 1.
Associated with acute pancreatitis.
Underlying defect is abnormal lipid metabolism with deficiencies of lipoprotein lipase or apoprotein C-II.
Exacerbated by pregnancy, hypothyroidism, ingestion of alcohol, diabetes, or estrogen exposure.
Patients may exhibit eruptive xanthoma, lipemia retinalis, hepato-splenomegaly and may have recurrent episodes of abdominal pain and acute pancreatitis.
Lipoprotein apheresis can greatly lower elevated triglyceride levels in the short term.
Management includes restriction of total fat intake to less than 10-15% of daily calories, which is often ineffective in preventing chylomicronemia and acute pancreatitis.
Apolipoprotein C- III elevated plasma levels are a major risk factor for hypertriglyceridemia.
Volanesorsen lower is triglyceride levels to less than 750 mg/dL in 77% of patients with familial chylomicronemia syndrome (Witztum J).