Abstract
Background and Aims : Familial chylomicronemia syndrome (FCS) is a rare recessive monogenic disease characterized by triglycerides (TG) levels >10 mmol/L. FCS is causally associated with mutations in candidate genes but most patients have mutations in lipoprotein lipase (LPL). Defects in LPL result in reduced clearance of chylomicrons (CM) and development of acute pancreatitis. Treatment of FSC patients is based on combined action of a lipid- and carbohydrate-reduced diet in addition to available hypolipidemic therapies that often fails to achieve a desired TG levels.
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