Familial Chylomicronemia Syndrome Due to a Homozygous LPL c.644G>A Variant and Response to Volanesorsen in Colombia: A Case Report.

Source: PubMed, NCBI / U.S. National Library of Medicine

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 pathogenicvariant, 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.