The Ongoing Utility of lipoprotein lipase activity in diagnosing familial Chylomicronemia Syndrome.

ABSTRACT:

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 referenc

SUBMITTER: Farina G 

PROVIDER: S-EPMC12803793 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature