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FCS pathogenic variant genetic testing

Diagnosing FCS can be challenging.
Clinical scoring can help.

The North American FCS (NAFCS) score is now available to help distinguish FCS from other causes of sHTG on the basis of common clinical and laboratory tests.50 

North American Familial Chylomicronemia Syndrome (NAFCS) Scoring Calculator50

Intended use: To estimate the likelihood that a patient with hypertriglyceridemia 
(≥440 mg/dL) has familial chylomicronemia syndrome (FCS) on the basis of clinical and clinical laboratory findings.

Intended for use by practicing clinicians in the United States and Canada.

Appropriate use: Valid only for patients who meet all the following criteria:

  • Not pregnant
  • ≥1 year old
  • Have TG level ≥440 mg/dL

Time required for completion: 15-30 seconds (when required information is readily available)

Background: Developed by a panel of 10 clinicians with expertise in hypertriglyceridemia (HTG), and a patient with FCS. Validated against a registry of patients with genetically confirmed FCS or multifactorial chylomicronemia syndrome (MCS).

This tool is adapted from Hegele RA, et al. J Clin Lipidol. Published online November 13, 2024. doi:10.1016/j.jacl.2024.09.008 
and is used under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/

years
mg/dL
Currently pregnant This calculator only applies to individuals who are not pregnant.
Response to treatment with fibrates and high-dose omega-3 fatty acids Response to treatment only relevant for individuals ≥10 years old.
years
Body Mass Index (BMI)
History of pancreatitis or unexplained abdominal pain
Secondary factors that may contribute to HTG
View list of Secondary Factors (select one below):
Other laboratory findings

Select all that apply:

Development and validation of clinical criteria to identify familial chylomicronemia syndrome (FCS) in North America

Hegele RA, Ahmad Z, Ashraf A, et al. Journal of Clinical Lipidology. 2024

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This article has no monetary value.

ADDITIONAL ALGORITHMS FOR DIAGNOSIS OF FCS

These articles have no monetary value.

Expert panel recommendations and proposal of an “FCS score.”

Moulin P, Dufour R, Averna M, et al. Atherosclerosis. 2018;275:265-272.

read article

Diagnostic algorithm for familial chylomicronemia syndrome

Stroes E, Moulin P, Parhofer KG, et al. Atheroscler Suppl. 2017;23:1-7

read article

Differentiating FCS from MCS

O’DEA LSL, MACDOUGALL J, ALEXANDER VJ, ET AL. J ENDOCR SOC. P, Dufour R, Averna M, et al. Atherosclerosis. 2018;275:265-272.

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