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Spotlight -

This Year In Medicine 2025

Opinion|Videos|December 4, 2024

Genetic Testing

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

Clinically-diagnosed FCS involves severe hypertriglyceridemia due to impaired lipoprotein lipase activity, distinct from classical FCS confirmed by genetic testing.
Functional FCS diagnosis relies on clinical presentation, exclusion of secondary causes, and family history assessment.
Genetic testing may not always be available or conclusive, necessitating a clinical diagnosis based on symptomatology and biochemical findings.

SHOW MORE

Panelists discuss how clinically -diagnosed (or functional) Familial Chylomicronemia Syndrome (FCS), involving a bi-allelic genetic defect, differs in diagnostic approach from classical FCS, emphasizing the challenges of diagnosing without genetic confirmation.

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 is clinically-diagnosed (or functional) FCS (with a bi-allelic genetic defect), and how does the approach to its diagnosis differ from classical FCS?

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