Genetic Testing

Author(s):

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

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.

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.

EP: 1.Overview of FCS

EP: 2.Severe Hypertriglyceridemia

EP: 3.Pathophysiology of FCS

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EP: 4.Genetic Testing

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?