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This Year In Medicine 2025

Opinion|Videos|December 4, 2024

Pathophysiology of FCS

Author(s)Peter Toth, MD, PhD, FCCP, FESC, FAHA, FACC , James Underberg, MS, MD, FACP, FACPM, FASPC, FASH, FNLA , Erin Michos, MD, MHS, FACC, FAHA, FASE, FASPC

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.

SHOW MORE

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.

Episodes in this series

EP. 1 Overview of FCS

EP. 1 Overview of FCS

EP. 2 Severe Hypertriglyceridemia

EP. 2 Severe Hypertriglyceridemia

EP. 3 Pathophysiology of FCS

EP. 3 Pathophysiology of FCS

EP. 4 Genetic Testing

EP. 4 Genetic Testing

EP. 5 Early Diagnosis

EP. 5 Early Diagnosis

EP. 6 Metabolic Disorders and Delayed Diagnosis

EP. 6 Metabolic Disorders and Delayed Diagnosis

EP. 7 FCS’ Affect on Quality of Life

EP. 7 FCS’ Affect on Quality of Life

EP. 8 Multidisciplinary Approach to Managing FCS

EP. 8 Multidisciplinary Approach to Managing FCS

EP. 9 Medium Chain Fatty Acids

EP. 9 Medium Chain Fatty Acids

EP. 10 Specialists’ Individual Treatment Plans for Patients With FCS: PCP

EP. 10 Specialists’ Individual Treatment Plans for Patients With FCS: PCP

EP. 11 Specialists’ Individual Treatment Plans for Patients With FCS: Pancreatic Specialist

EP. 11 Specialists’ Individual Treatment Plans for Patients With FCS: Pancreatic Specialist

EP. 12 Current FCS Standard-of-Care Treatment Recommendations

EP. 12 Current FCS Standard-of-Care Treatment Recommendations

EP. 13 APOC3 Inhibitors

EP. 13 APOC3 Inhibitors

EP. 14 Diet, Exercise, and Other Lifestyle Factors

EP. 14 Diet, Exercise, and Other Lifestyle Factors

EP. 15 FCS Patient Case study

EP. 15 FCS Patient Case study

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?

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