{Reference Type}: Case Reports
{Title}: Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report.
{Author}: Tünnemann-Tarr A;Scharnagl H;Katzmann JL;Stürzebecher P;Laufs U;
{Journal}: Medicine (Baltimore)
{Volume}: 100
{Issue}: 42
{Year}: Oct 2021 22
{Factor}: 1.817
{DOI}: 10.1097/MD.0000000000027573
{Abstract}: <B>BACKGROUND: </B>Familial chylomicronemia syndrome is a congenital, severe form of hypertriglyceridemia associated with increased risk of acute pancreatitis. Treatment options are limited.<BR><B>METHODS: </B>A 52-year-old woman was referred with recurrent pancreatitis and severe hypertriglyceridemia to our lipid clinic.<BR><B>METHODS: </B>Laboratory examination showed elevated serum triglyceride concentrations of 8090 mg/dL (90 mmol/L). Lipid electrophoresis showed a type V phenotype with positive chylomicrons. Genetic investigation revealed a novel heterozygous large deletion of the lipoprotein lipase gene on chromosome 8. A familial chylomicronemia syndrome was diagnosed. Other causes of hypertriglyceridemia were excluded.<BR><B>METHODS: </B>Fibrates and diet did not lower triglyceride levels. Therefore, treatment with the apolipoprotein CIII (apoCIII) inhibitor volanesorsen was initiated.<BR><B>RESULTS: </B>After 3 months of treatment, a 90% reduction of triglycerides was observed. ApoCIII concentrations were reduced by 90% in the total and by 61% in the chylomicron-free serum. Treatment was well tolerated with only minor local reaction after the first application. The platelet count was monitored weekly and did not decrease <150 cells/μL.<BR><B>CONCLUSIONS: </B>This case report shows that inhibition of apoCIII potently reduces serum triglycerides in patients with heterozygous monogenetic deletion of the lipoprotein lipase gene. Follow-up will show the effect on recurrent episodes of pancreatitis.