Key result
LPL activity distinguishes FCS from MCS with ~0.96 AUC.
Why the study?
Because lipoprotein lipase activity assays are not standardized for clinical use, researchers sought to establish clinical reference values and a diagnostic cut-off point to distinguish Familial Chylomicronemia Syndrome from Multifactorial Chylomicronemia Syndrome, particularly when genetic findings are inconclusive.
Does lipoprotein lipase activity measurement improve the diagnostic differentiation of Familial Chylomicronemia Syndrome from Multifactorial Chylomicronemia Syndrome in patients with severe hypertriglyceridemia?
Cross-Sectional (n=58)
Does lipoprotein lipase activity measurement improve the diagnostic differentiation of Familial Chylomicronemia Syndrome from Multifactorial Chylomicronemia Syndrome in patients with severe hypertriglyceridemia?
Effect estimate: AUC 0.964 (95% CI 0.877-0.996)
Measuring lipoprotein lipase (LPL) activity in post-heparin plasma is highly accurate for distinguishing familial from multifactorial chylomicronemia syndrome, providing a critical diagnostic tool when genetic testing is inconclusive.
Objective: Given that lipoprotein lipase (LPL) activity assays are not standardized for clinical use, we aimed to define reference values applicable to our clinical setting and identify a cut-off point to help distinguish Familial Chylomicronemia Syndrome from Multifactorial Chylomicronemia Syndrome, particularly in patients with inconclusive genetic findings. Methods: We evaluated 28 patients with a history of TG levels above 880 mg/dL (10 mmol/L), and assessed their likelihood of FCS using the Moulin score. LPL activity was measured in post-heparin plasma using a radiometric assay. Thirty normotriglyceridemic controls were used to define reference values. Genetic testing for FCS canonical genes and lipid profile was performed in all sHTG patients. Results: The reference value for LPL activity was 33.3 (18.7-70.3) mIU, with a cut-off of 8.42 mIU (25 % of the median of NTG) to distinguish FCS from MCS. Eighteen patients without genetic variants in canonical genes, a Moulin score <9 and LPL activity >25 % of NTG, were classified as MCS. Five genetic diagnosed FCS patients, with a Moulin score>10 presented LPL activity <25 % of NTG. Four patients with inconclusive genetic results and a Moulin score>10 were classified as FCS according to LPL activity. Conclusion: LPL activity in patients with sHTG could be useful for differentiating FCS and MCS, particularly in patients with ambiguous or negative genetic findings, highlighting the need for specialized laboratory support in diagnostics.
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Fariña et al. (2025) conducted a cross-sectional in Severe hypertriglyceridemia and suspected Familial Chylomicronemia Syndrome (n=58). Lipoprotein lipase (LPL) activity measurement vs. Normotriglyceridemic controls and genetic testing findings was evaluated on Diagnostic performance of LPL activity cut-off to distinguish FCS from MCS (AUC 0.964, 95% CI 0.877-0.996). LPL activity measurement using a cut-off of 8.42 mIU effectively distinguished Familial Chylomicronemia Syndrome from Multifactorial Chylomicronemia Syndrome with an AUC of 0.964.
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