Lipidomic Signature of Patients with Familial Hypercholesterolemia Carrying Pathogenic Variants Unveils a Cue of Increased Cardiovascular Risk.

ABSTRACT: Familial Hypercholesterolemia (FH) is a common genetic disorder characterized by elevated LDL-cholesterol levels and an increased risk of premature cardiovascular disease. While pathogenic variants in LDLR, APOB, and PCSK9 are well-established causes, a substantial proportion of clinically suspected FH cases do not carry either pathogenic variants or rare variants of uncertain significance in these genes (FH/V-/USV-). This study aimed to characterize the metabolome/lipidome of genetically confirmed heterozygous FH (HeFH) patients compared to FH/V-/USV-, seeking to identify specific alterations associated with genetic status and phenotypic variability. Untargeted high-resolution mass spectrometry (UHPLC-Q-Exactive-MS)-based lipidomics and nuclear magnetic resonance-base

SUBMITTER: De Simone G 

PROVIDER: S-EPMC12609719 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature