Fasting triglyceride levels of ≥880 mg/dL that are refractory to standard triglyceride-lowering therapies
If there is clinical suspicion of FCS based on these indicators, consider genetic testing to confirm the diagnosis and guide treatment decisions to help prevent further disease burden and complications such as acute pancreatitis (AP).1,3
*Hypertriglyceridemia can be caused by medications such as glucocorticoids, ethinyloestradiol and neuroleptics, or conditions such as uncontrolled diabetes, hypothyroidism, and pregnancy.1
FCS = familial chylomicronemia syndrome
Excluding secondary factors that may contribute to hypertriglyceridemia4
When investigating a patient for a potential diagnosis of FCS, it is crucial to first exclude secondary/environmental factors as the principal cause of hypertriglyceridemia – once these have been ruled out, the clinical suspicion can appropriately shift to a genetic disorder like FCS.3,4
It is important to note that if an FCS patient does have secondary/environmental factors (even if they are not the primary cause of their hypertriglyceridemia), these need to be managed because they can further elevate TG levels and unnecessarily increase the risk of AP.4,5
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The European FCS score (‘Moulin score’) is a scoring tool for familial chylomicronemia syndrome (FCS)
In 2018, a panel of European experts (Moulin et al) published an algorithm-based tool using laboratory and clinical findings, which helps differentiate FCS from multifactorial chylomicronemia syndrome (MCS) and identify candidates for genetic testing.1
The scoring tool below can be used to assign a clinical score for patients with chylomicronemia syndrome based on triglyceride (TG) levels, medical history and age. It was originally proposed that patients with a score equal to or above 10 (meaning FCS is very likely) should be genetically tested.1 In more recent studies, a lower European FCS score of 7 has been proposed as the referral criterion to request genetic testing for FCS confirmation.6
Using a lower threshold for early referral to genetic testing (a European FCS score of 7 or above) may allow earlier confirmation of a definitive diagnosis and initiation of appropriate treatment.3,4,6,7
Select each item that applies to determine your patient's FCS score. The numbers in brackets represent the weighting given to the presence of each characteristic.1
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Clinical versus genetic diagnosis in chylomicronemia syndrome
Patients who score highly on clinical tools such as the European FCS score, but have not undergone genetic testing (or a genetic test was indeterminate), may be classified as having a ‘clinical FCS’ diagnosis.5 This classification is often used in settings where genetic testing is limited or unavailable.5
In some cases, patients with indeterminate genetic testing may be subsequently adjudicated to have genetic FCS by a subject matter expert (e.g. with the use of advanced software and additional bioinformatic evaluation).8,9 Accordingly, consider re-testing if there is a high suspicion of FCS.
Understanding FCS
References
Moulin P, et al. Atherosclerosis. 2018;275:265–272.
Gaudet D, et al. N Engl J Med. 2014;371:2200-2206. doi: 10.1056/NEJMoa1400284.
Javed F, et al. J Clin Lipid. 2025;19:382–403.
Hegele RA, et al. J Clin Lipidol. 2025;19(1):83–94.
Saadatagah S, et al. J Clin Lipidol. 2025;19(4):723–736. doi: 10.1016/j.jacl.2025.03.012.
Bashir B, et al. Atherosclerosis. 2024;391:117476. doi: 10.1016/j.atherosclerosis.2024.117476. 2024
Davidson M, et al. J Clin Lipidol. 2018;12:898–907.
Stroes ESG, et al. N Engl J Med. 2024;390(19):1781–1792.
Stroes ESG, et al. N Engl J Med. 2024;390(19) (supplementary appendix):1781–1792.