Treatment of Familial Chylomicronemia Syndrome: A Multidisciplinary Approach

Panelists discuss how familial chylomicronemia syndrome (FCS) and persistent chylomicronemia are diagnosed either genetically or clinically, outlining the prevalence and disease burden of FCS in the US, as well as its signs, symptoms, and diagnostic criteria, and how to differentiate FCS from other forms of hyperlipidemia.

Panelists discuss how Familial Chylomicronemia Syndrome (FCS) fits into the context of severe hypertriglyceridemia, highlighting its distinct characteristics and the associated risks of acute pancreatitis.

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.

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.

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.

Panelists discuss the potential cardiovascular and metabolic consequences of a delayed diagnosis and treatment of Familial Chylomicronemia Syndrome (FCS), emphasizing the long-term health risks, including an increased risk of acute pancreatitis, cardiovascular disease, and metabolic complications.