About FCS Familial chylomicronemia syndrome (FCS) is an underdiagnosed genetic form of severe 
hypertriglyceridemia (sHTG)3

FCS overview

  • FCS is caused by loss-of-function pathogenic variants in the lipoprotein lipase (LPL) gene and in other genes encoding proteins required for LPL activity4
    • LPL is an enzyme that breaks down triglycerides in chylomicrons and in very-low-density lipoprotein (VLDL) particles4
  • The resulting lack of LPL activity impairs an individual’s ability to process dietary and endogenous fat, leading to severely elevated triglyceride levels4,5
    • This manifests in a variety of ways, including lipemic blood samples (seen in the lab after centrifugation), eruptive xanthomas, and lipemia retinalis, as well as an increased risk of acute pancreatitis6
  • FCS is diagnosed through the use of established clinical criteria, supported by genetic testing6

Not a real patient; actor portrayal.

Actor Portrayal of Patient In Pain Holding Her Side

Patients with FCS can have triglyceride levels 10 to 100 times the normal level, leading to potentially life-threatening pancreatitis4

Acute pancreatitis (AP) prevalence as high as 75%7*

In 1 study, the rate of hospitalization for AP was reported to be 58.6%8†

Mortality rate from recurrent AP reported to be as high as 6%,9‡ with increased risk of organ failure, pancreatic necrosis, and type 3c pancreatogenic diabetes due to chronic pancreatitis10,11

Patients with FCS may face debilitating physical and psychosocial symptoms, social withdrawal, and difficulty maintaining employment3§

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There have been no FDA-approved therapies specifically to lower triglyceride levels in people with FCS—until now.1,4

*A retrospective review of patients with triglyceride levels >1000 mg/dL with or without a history of acute pancreatitis (N=32) over a median of 44 months. Estimated overall incidence rate of AP of 42 per 1000 person-years in FCS and 13 per 1000 person-years in multifactorial chylomicronemia syndrome (MCS).7
†Study included data from 29 patients with FCS and 124 with MCS. Data collected over a 10-year span (2006-2016).8
‡Survey of lipidologists on the incidence and outcomes of recurrent AP in patients with FCS (N=251).9
§Results of a global web-based survey open to patients with FCS (N=166).3

Diagnosing FCS6

If a patient exhibits these indicators of FCS:

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Fasting triglyceride levels of ≥880 mg/dL that are refractory to standard triglyceride-lowering therapies

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No known secondary causes for their sHTG||

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History of recurrent abdominal pain or acute pancreatitis

Consider using established scoring criteria to aid in diagnosis or to support a diagnosis of FCS with either indeterminate or positive genetic test results.6

Please note that not all genetic variants associated with FCS have been identified. So, genetic testing can be supportive of a clinical FCS diagnosis, even with indeterminate results.6

||Hypertriglyceridemia can be caused by medications such as glucocorticoids, ethinylestradiol, and neuroleptics, or conditions such as uncontrolled diabetes, hypothyroidism, and pregnancy.6

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Patient Standing And Thinking

Patient case: Gus

Gus, aged 31, presents with persistently elevated triglyceride levels and a medical history that prompts further evaluation.

Hypothetical patient case; actor portrayal.

Key findings:

  • Fasting triglyceride levels >1500 mg/dL that have been consistently refractory to lipid-lowering treatments
  • History of recurrent abdominal pain
  • No known secondary causes of sHTG
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Based on a clinical assessment and supportive genetic testing, Gus is diagnosed with FCS.

Hypothetical patient case; actor portrayal.