Key result
Volanesorsen linked to ~77% triglyceride reduction and no new acute pancreatitis over 10 months.
Why the study?
Does volanesorsen reduce triglycerides and prevent pancreatitis in a patient with familial chylomicronemia syndrome due to a homozygous LPL variant?
Case Report (n=1)
No
Does volanesorsen reduce triglycerides and prevent pancreatitis in a patient with familial chylomicronemia syndrome due to a homozygous LPL variant?
Absolute Event Rate: 915% vs 3918%
Volanesorsen effectively reduced triglycerides and prevented recurrent pancreatitis in a patient with familial chylomicronemia syndrome caused by a homozygous LPL variant.
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by persistent severe hypertriglyceridemia and recurrent acute pancreatitis, and is frequently misdiagnosed as multifactorial hypertriglyceridemia. We report the case of a 57-year-old Colombian male with recurrent acute pancreatitis and severe hypertriglyceridemia peaking at 4,350 mg/dL, refractory to fibrates, statins, and omega-3 fatty acids, with persistently low low-density lipoprotein (LDL) and high-density lipoprotein (HDL) levels. Secondary causes were excluded, and chronic valproic acid therapy was identified as a potential aggravating factor. A Moulin score of 10 points classified FCS as highly probable, and next-generation sequencing confirmed a homozygous pathogenic LPL variant, NM_000237.3.644G>A, p.(Gly215Glu), associated with loss of enzymatic activity. Following diagnostic confirmation, volanesorsen produced a sustained triglyceride reduction, with no new episodes of pancreatitis during uninterrupted therapy. This case underscores the importance of suspecting FCS in patients with refractory severe hypertriglyceridemia and recurrent pancreatitis. Molecular diagnosis enables access to precision medicine-based strategies with a meaningful impact on clinical outcomes and quality of life.
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Berrocal et al. (2026) conducted a case report in Familial Chylomicronemia Syndrome (n=1). Volanesorsen vs. Pre-treatment baseline was evaluated on Serum triglyceride levels (mg/dL). Volanesorsen produced a marked and sustained reduction in triglyceride levels from 3,918 mg/dL to below 950 mg/dL, with no new episodes of acute pancreatitis during 10 months of therapy.
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