Early Diagnosis

Author(s):

Peter Toth, MD, PhD, FCCP, FESC, FAHA, FACC ,James Underberg, MS, MD, FACP, FACPM, FASPC, FASH, FNLA

Key Takeaways

Early diagnosis and treatment of FCS are vital to prevent severe complications like pancreatitis and enhance patient quality of life.
Symptoms of FCS, such as abdominal pain and fatigue, are frequently misattributed to more common conditions, causing diagnostic delays.
The rarity of FCS and limited awareness among healthcare providers contribute to frequent misinterpretation and delayed diagnosis.
Many patients endure symptoms for years before receiving an accurate FCS diagnosis, highlighting the need for increased medical education.

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.

EP: 1.Overview of FCS

EP: 2.Severe Hypertriglyceridemia

EP: 3.Pathophysiology of FCS

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EP: 4.Early Diagnosis

EP: 5.Genetic Testing

Video content above is prompted by the following:

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?