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 the importance of early diagnosis and treatment of Ffamilial Cchylomicronemia Ssyndrome (FCS), highlighting how misunderstood signs and symptoms often lead to delayed diagnosis, and explore the frequency of these delays in clinical practice.

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.

Panelists discuss how familial chylomicronemia syndrome (FCS) affects patients’ quality of life, particularly in terms of their emotional well-being, employment burden, and social isolation due to recurrent acute pancreatitis, and explore the significant economic burden it places on patients and their families.

Panelists discuss the importance of a multidisciplinary approach to managing familial chylomicronemia syndrome (FCS), outlining the key professionals involved in the care team, and how specialists should engage with one another throughout the disease course, from early to advanced stages, including typical referral patterns and optimal timing for patient referrals.