Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome.

Background: Familial chylomicronemia syndrome is a rare genetic disorder that is caused by loss of lipoprotein lipase activity and characterized by chylomicronemia and recurrent episodes of pancreatitis. There are no effective therapies. In an open-label study of three patients with this syndrome, antisense-mediated inhibition of hepatic mRNA with volanesorsen led to decreased plasma apolipoprotein C-III and triglyceride levels.

Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study.

Background: Familial chylomicronemia syndrome (FCS) is a rare metabolic disorder caused by mutations in lipoprotein lipase (LPL) or genes required for LPL functionality and is characterized by hyperchylomicronemia that results in recurrent episodes of acute pancreatitis. Owing to the rarity of FCS, there are few case series describing the phenotypic variability in FCS patients in detail.

Objective: To provide baseline characteristics in the largest study population to date of patients with FCS.

The burden of familial chylomicronemia syndrome from the patients' perspective.

Background: Familial chylomicronemia syndrome (FCS) is a rare, inherited lipid disorder characterized by high levels of plasma triglycerides and chylomicrons, which may cause life-threatening acute pancreatitis. Currently no FDA-approved treatment exists. Management is low-fat diet (<20g fat/day), which is difficult to maintain.