About FCS

Familial chylomicronemia syndrome (FCS) is an underdiagnosed genetic form of severe hypertriglyceridemia (sHTG)15-18

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 activity14
    • LPL is an enzyme that breaks down triglycerides in chylomicrons and in very-low-density lipoprotein (VLDL) particles14
  • The lack of LPL activity leads to the accumulation of VLDL and chylomicrons, leaving individuals with severely elevated triglyceride levels consistently ≥880 mg/dL and an increased risk of pancreatitis7
    • This manifests in a variety of ways, including lipemic blood samples (seen in the lab after centrifugation), eruptive xanthomas, and lipemia retinalis19
  • There are several methods to diagnose FCS, including clinical scoring tools5,19:
    • North American FCS (NAFCS) Score
    • Clinical criteria developed by Moulin et al
    • Genetic testing

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 pancreatitis20

Acute pancreatitis (AP) prevalence as high as 75%20

In 1 study, the rate of hospitalization for AP was reported to be 58.6%21†

Mortality rate from recurrent AP reported to be as high as 6%,17 with increased risk of organ failure, pancreatic necrosis, and type 3c pancreatogenic diabetes due to chronic pancreatitis22,23

Patients with FCS may face debilitating physical and psychosocial symptoms, social withdrawal, and difficulty maintaining employment24

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There were no FDA-approved therapies specifically to lower triglyceride levels in people with FCS—until 2024.1,24

*Normal range <150 mg/dL.20

†Study included data from 29 patients with FCS and 124 with MCS. Data collected over a 10-year span (2006-2016).21

Distinguishing genetic forms of sHTG

FCS and multifactorial chylomicronemia syndrome (MCS) are both genetic forms of sHTG, but with key distinguishing features.15

Clinical/genetic feature
FCS
MCS
Up Arrow Icon Triglyceride levels Persistently ≥880 mg/dL19 Intermittently ≥880 mg/dL19
Pill Bottle Icon Response to pharmacologic treatment
Minimal to no effect (fibrates, niacin, omega-3 fatty acid supplements, and statins)7 Variable response (omega-3 fatty acid supplements and niacin)7
Genetic Icon Genetic basis Can be monogenic15 Polygenic15
Birthday Cake Icon Age of onset Often younger (childhood/adolescence)14 Often older (mostly adulthood)14
Scale Icon Body weight Often within normal body mass index (BMI) range15 Often overweight (BMI between 28 and 30 kg/m2)15,19
Checklist Icon Secondary factors Less likely (except pregnancy/hormonal birth control)19 Likely (metabolic syndrome)19
Group Icon Population frequency 1-13 per 1 million people15,18 Up to 4000 per 1 million people15

Magnifying Glass Icon Accurate diagnosis is essential for proper management of FCS in your adult patients.24