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Pathophysiology of FCS

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What role does do genetic mutations, such as mutation of the

 gene, play in the pathophysiology of FCS? 

Treatment of Familial Chylomicronemia Syndrome: A Multidisciplinary Approach

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Genetic mutations, particularly in the LPL gene, are central to the pathophysiology of Familial Chylomicronemia Syndrome (FCS). The LPL gene encodes lipoprotein lipase, an enzyme crucial for the hydrolysis of triglycerides in chylomicrons. Mutations in this gene lead to a deficiency or dysfunction of lipoprotein lipase, resulting in impaired triglyceride metabolism. This impairment causes the accumulation of chylomicrons in the bloodstream, leading to severe hypertriglyceridemia and associated clinical manifestations. Understanding these genetic mutations is essential for diagnosing and developing targeted therapies for FCS.

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.