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Recent research has led to the development of diagnostic guideposts for distinguishing familial chylomicronemia syndrome (FCS) from other causes of sHTG

Armed with knowledge, healthcare professionals can better help people with FCS. 

Diagnostic delays and lack of awareness about FCS increase the burden of disease on patients.12,14

As many as 65-80% of people with FCS will experience at least one episode of acute pancreatitis.14,30 Acute pancreatitis can 
have a mortality rate of 5-6% in uncomplicated cases, and as high as 30% when accompanied by complications.12

Adding further complexity, FCS is an uncommon form of 
sHTG that can be difficult to distinguish from multifactorial chylomicronemia syndrome (MCS), also known as polygenic chylomicronemia. An expert consensus panel developed a scoring system to help differentiate FCS from MCS based on clinical and laboratory features.14

Though clinical criteria can help with the initial diagnosis of FCS, 
genetic testing can help confirm the diagnosis.21,43

learn more about evaluating patients with FCS >

REFERENCES

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