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 lack of LPL activity leads to the accumulation of VLDL and chylomicrons, leaving individuals with severely elevated triglyceride levels and an increased risk of pancreatitis5
    • This manifests in a variety of ways, including lipemic blood samples (seen in the lab after centrifugation), eruptive xanthomas, and lipemia retinalis6
  • There are several methods to diagnose FCS, including clinical scoring tools (Moulin et al and North American FCS [NAFCS]) and genetic testing6,7
    • Indeterminate genetic testing results can support a clinical FCS diagnosis, as not all genetic variants associated with FCS have been identified6

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%8*

In 1 study, the rate of hospitalization for AP was reported to be 58.6%9†

Mortality rate from recurrent AP reported to be as high as 6%,10‡ with increased risk of organ failure, pancreatic necrosis, and type 3c pancreatogenic diabetes due to chronic pancreatitis11,12

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).8
†Study included data from 29 patients with FCS and 124 with MCS. Data collected over a 10-year span (2006-2016).9
‡Survey of lipidologists on the incidence and outcomes of recurrent AP in patients with FCS (N=251).10
§Results of a global web-based survey open to patients with FCS (N=166).3

Distinguishing genetic forms of sHTG

FCS and multifactorial chylomicronemia syndrome (MCS) are both genetic forms of sHTG, but there are several key features that distinguish them from each other.8

Clinical/genetic feature
FCS
(also known as Fredrickson type 1 hyperlipoproteinemia and lipoprotein lipase deficiency)13
MCS
(formerly known as Fredrickson type V hyperlipoproteinemia)14
Up Arrow Icon Triglyceride levels Persistently ≥880 mg/dL6 Intermittently ≥880 mg/dL6
Pill Bottle Icon Response to pharmacologic treatment
Minimal to no effect (fibrates, niacin, omega-3 fatty acid supplements, and statins)15 Variable response (omega-3 fatty acid supplements and niacin)15
Genetic Icon Genetic basis Can be monogenic16 Polygenic14
Birthday Cake Icon Age of onset Often younger (childhood/adolescence)3,8 Often older (mostly adulthood)8
Scale Icon Body weight Often within normal body mass index (BMI) range14 Often overweight (BMI between 28 and 30 kg/m2)14
Checklist Icon Secondary factors Less likely (except pregnancy/hormonal birth control)6 Likely (metabolic syndrome)6
Group Icon Population frequency 1-13 per 1 million people16,17 Up to 4000 per 1 million people14
FCS vs MCS Comparison

||Also known as Fredrickson type 1 hyperlipoproteinemia and lipoprotein lipase deficiency.13

Formerly known as Fredrickson type V hyperlipoproteinemia.14

Magnifying Glass Icon Accurate diagnosis is essential for proper management of FCS in your adult patients.18