Mass spectrometry of circulating lipid species highlights similarity of familial hyperlipidemias and hyperlipidemias in the general population

Abstract

Aim: Familial aggregation of high LDL-C or TGs is linked with increased cardiovascular risk. Recently, such hyperlipidemias were shown to be genetically heterogeneous, with a third of cases having a high polygenic burden for alleles known to associate with LDL-C or TGs in population samples. To study whether familial hyperlipidemia is also heterogeneous in lipid particle constituents, we examined detailed circulating lipidomic profiles in families with elevated LDL-C or TGs, and contrasted them with unrelated population samples with similarly elevated LDL-C or TGs.