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Genetic Testing

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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? 

Treatment of Familial Chylomicronemia Syndrome: A Multidisciplinary Approach

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Peer Exchange

Clinically-diagnosed familial chylomicronemia syndrome (FCS) with a bi-allelic genetic defect is characterized by severe hypertriglyceridemia due to impaired lipoprotein lipase activity. Unlike classical FCS, which is confirmed through genetic testing, functional FCS diagnosis relies on clinical presentation and exclusion of secondary causes. The diagnostic approach for functional FCS involves assessing triglyceride levels, ruling out other conditions, and considering family history. 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.