Peter Toth, MD, PhD, FCCP, FESC, FAHA, FACC 

Multidisciplinary Approach to Managing FCS

Video content above is prompted by the following:

What is the importance of a multidisciplinary approach to managing FCS?

What kind of professionals typically comprise a multidisciplinary care team for a patient with FCS?

How should specialists engage with each other along the spectrum of the disease course–from early to advanced stages?

What is a typical referral pattern for patients with FCS across specialties? When should patients be referred?


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Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by extremely high triglyceride levels, leading to recurrent pancreatitis and other complications. Delayed diagnosis and treatment can exacerbate cardiovascular and metabolic consequences, including increased risk of atherosclerosis, cardiovascular disease, and metabolic syndrome. Long-term health risks involve persistent hypertriglyceridemia, which can cause chronic pancreatitis, diabetes, and liver disease. Early intervention is crucial to mitigate these risks, improve patient outcomes, and enhance quality of life by managing triglyceride levels and preventing severe complications.

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.

FCS’ Affect on Quality of Life

How does FCS affect patients’ quality of life (eg, their emotional well-being, employment burden, and social isolation), specifically regarding acute pancreatitis?

What economic burden does FCS have on patients with acute pancreatitis and their families?


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.

Early Diagnosis

Can you describe the importance of early diagnosis and treatment of FCS?

Why are the signs and symptoms of FCS often misunderstood, leading to delayed diagnosis? How often does delayed diagnosis occur?

Early diagnosis and treatment of Familial Chylomicronemia Syndrome (FCS) are crucial to prevent severe complications such as pancreatitis and to improve quality of life. FCS symptoms, including abdominal pain and fatigue, are often misattributed to more common conditions, leading to diagnostic delays. This misinterpretation is exacerbated by the rarity of FCS and lack of awareness among healthcare providers. Delayed diagnosis is common, with many patients experiencing symptoms for years before receiving an accurate diagnosis, underscoring the need for increased education and awareness in the medical community.

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.

Genetic Testing

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? 

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.

Peter Toth, MD, PhD, FCCP, FESC, FAHA, FACC

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