FCS | Diagnosing FCS

Utilizing clinical scoring tools to identify patients with suspected familial chylomicronemia syndrome (FCS)

 

In 2018, a panel of European experts (Moulin et al) published an algorithm-based tool to help identify FCS, which has been aiding clinicians for years.1 In 2024, the North American FCS (NAFCS) criteria published by Hegele et al were developed and validated specifically for patients in the United States and Canada.2 These tools use key clinical features of FCS to generate a score that can help facilitate a diagnosis of FCS.1,2

This information is intended as educational information for healthcare professionals. It does not replace a healthcare professional’s judgment or clinical diagnosis.

Using the NAFCS scoring criteria to confer a clinical diagnosis

This calculator, adapted from Hegele et al, should be used in patients ≥1 year old with hypertriglyceridemia (≥440 mg/dL). In patients ≥10 years old, the calculator is intended for patients who are not responsive to fibrates and high-dose omega-3 fatty acids even when the patient is adherent to therapy (ie, triglycerides do not decrease by 20% or more from these treatments and do not remain reduced).1

Characteristic 1*
Category score
i

Current age (years)

Age range indicator Age range indicator
Hypertriglyceridemia onset (years) Only asked of patients ≥10
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Body mass index (percentile for children/adolescents)

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History of pancreatitis

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Presence of secondary factors that may contribute to hypertriglyceridemia

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Laboratory values (select if true)

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Additional points added:

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Category score

Interpreting results1

  • ≥60 strongly indicates definite FCS
  • ≥45 suggests likely FCS rather than MCS
  • ≥30-44 suggests patient may have FCS and genetic testing should be considered§
  • <30 deemed unlikely to be FCS, but genetic testing may still be needed
Result
0

Adapted from Hegele RA, Ahmad Z, Ashraf A, et al. Development and validation of clinical criteria to identify familial chylomicronemia syndrome (FCS) in North America. J Clin Lipidol. 2025;19(1):83-94.
 
*The NAFCS Score does not provide a value for pregnant patients.1
Calculator cannot be used for patients <1 year old. If infant presents with no secondary factors that may contribute to hypertriglyceridemia, consider a diagnosis of FCS. If infant presents with ≥1 secondary factor that may contribute to hypertriglyceridemia, but with 2 triglyceride readings >880 mg/dL and unexplained failure to thrive, consider a diagnosis of FCS.1
See the table below for secondary factors that may contribute to hypertriglyceridemia.6
§Further research is needed to determine the validity of a score from 30-44.1

BMI=body mass index; MCS=multifactorial chylomicronemia syndrome.