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Pathophysiology of FCS

Key Takeaways

  • LPL gene mutations cause lipoprotein lipase deficiency, impairing triglyceride metabolism and leading to chylomicron accumulation in FCS.
  • Severe hypertriglyceridemia in FCS results from dysfunctional lipoprotein lipase due to genetic mutations.
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Panelists discuss how genetic mutations, such as mutations in the LPL gene, play a critical role in the pathophysiology of Familial Chylomicronemia Syndrome (FCS) by impairing triglyceride metabolism and increasing the risk of severe hypertriglyceridemia.

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