Ira J. Goldberg, MD is professor of medicine

Panelists walk through a patient case scenario involving Maria, a 29-year-old woman diagnosed with familial chylomicronemia syndrome (FCS), offering recommendations from each of their specialty perspectives, including dietary modifications, triglyceride-lowering medications, and patient education on managing the condition to prevent recurrent pancreatitis and improve overall quality of life.

Panelists discuss the critical role of diet, exercise, and other lifestyle factors in the management of familial chylomicronemia syndrome (FCS), emphasizing the importance of a strict low-fat diet, regular physical activity, and other behavioral modifications to help manage triglyceride levels and prevent acute pancreatitis.

Panelists discuss important novel therapies emerging for familial chylomicronemia syndrome (FCS), focusing on APOC3 inhibitors, including small interfering RNA (siRNA) and antisense oligonucleotides (ASO), and their potential to address the underlying lipid metabolism dysfunction in patients with FCS.

Panelists discuss the current standard-of-care treatment recommendations for familial chylomicronemia syndrome (FCS) from an endocrinologist’s perspective, addressing the use of fibrates, omega-3 fatty acids, and statins despite their lack of approval for FCS; their typical impact on triglyceride reduction; the reasons these therapies are often ineffective in FCS; the gaps in existing treatments; and the associated risks of acute pancreatitis and hospitalization, along with potential adverse effects of these therapies.

Panelists discuss their specific areas of focus in the care for a patient with familial chylomicronemia syndrome (FCS) as endocrinologists, cardiologists, internists, and pancreatic specialists, outlining primary treatment goals, such as reducing triglyceride levels below 500 mg/dL to lower the risk of acute pancreatitis, and providing recommendations to support optimal collaboration across all specialties involved in managing FCS.

Panelists discuss their management approaches and unique considerations for patients with familial chylomicronemia syndrome (FCS) from the perspectives of endocrinologists, cardiologists, internists, and pancreatic specialists, highlighting specialized treatment strategies and collaborative care.

Panelists discuss communication strategies that support optimal collaboration across specialties in the management of familial chylomicronemia syndrome (FCS), emphasizing the importance of clear, coordinated communication to improve patient outcomes.

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.

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 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 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 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 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 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.

Conventional measurements of cardiac lipoprotein risk include cholesterol, triglyceride, and high-density lipoprotein (HDL) cholesterol levels. Low-density lipoprotein (LDL) cholesterol is estimated from these measurements.

The background required for assessing this paper by Hanefeld and Forst is derived from clinical studies using statin and peroxisome proliferator-activated receptors (PPAR)γ agonists.

Extrapolating experimental findings to humans requires one to remember 2 basic dictums: (1) drugs do a lot of stuff; and (2) animal and in vitro findings are often wrong.