Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report. Issue 42 (22nd October 2021)

• Record Type: Journal Article
• Authors: Tünnemann-Tarr, Adrienn; Scharnagl, Hubert; Katzmann, Julius L.; Stürzebecher, Paulina; Laufs, Ulrich
• Other Names: Saranathan. Maya section editor.
• Is Part Of: Medicine. Volume 100:Issue 42(2021)
• Publication Date: 2021-10-22
• Subjects: apolipoprotein CIII inhibitor -- familial chylomicronemia syndrome -- hypertriglyceridemia -- pancreatitis -- volanesorsen; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000027573
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: Familial chylomicronemia syndrome is a congenital, severe form of hypertriglyceridemia associated with increased risk of acute pancreatitis. Treatment options are limited. Patient concerns: A 52-year-old woman was referred with recurrent pancreatitis and severe hypertriglyceridemia to our lipid clinic. Diagnosis: 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. Interventions: Fibrates and diet did not lower triglyceride levels. Therefore, treatment with the apolipoprotein CIII (apoCIII) inhibitor volanesorsen was initiated. Outcomes: 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. Lessons: 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.