Pathophysiology of FCS

Author(s):

Peter Toth, MD, PhD, FCCP, FESC, FAHA, FACC ,James Underberg, MS, MD, FACP, FACPM, FASPC, FASH, FNLA

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.
Understanding genetic mutations in FCS is crucial for diagnosis and developing targeted therapies.

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.

EP: 1.Overview of FCS

EP: 2.Severe Hypertriglyceridemia

Now Viewing

EP: 3.Pathophysiology of FCS

EP: 4.Genetic Testing

Video content above is prompted by the following:

What role does do genetic mutations, such as mutation of the LPL gene, play in the pathophysiology of FCS?