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SHR Neuro Cancer Cardio Lipid Metab Microb

Tünnemann-Tarr, A; Scharnagl, H; Katzmann, JL; Stürzebecher, P; Laufs, U.
Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report.
Medicine (Baltimore). 2021; 100(42):e27573 Doi: 10.1097/MD.0000000000027573 (- Case Report) [OPEN ACCESS]
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Co-authors Med Uni Graz: Scharnagl Hubert
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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.
Find related publications in this database (using NLM MeSH Indexing): Apolipoprotein C-III - antagonists & inhibitors; Chromosomes, Human, Pair 8 - genetics; Female - administration & dosage; Humans - administration & dosage; Hyperlipoproteinemia Type I - drug therapy, genetics; Lipoprotein Lipase - genetics; Middle Aged - administration & dosage; Oligonucleotides - therapeutic use; Triglycerides - blood
Find related publications in this database (Keywords): apolipoprotein CIII inhibitor; familial chylomicronemia syndrome; hypertriglyceridemia; pancreatitis; volanesorsen