BAL Christina

Biomarkers in Pediatric Patients with Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is defined as an autosomal dominant genetic disorder mainly caused by a mutation of the genes for low density lipoprotein receptors (LDL-R), apolipoprotein B (ApoB), proprotein convertase subtilisin kexin type 9 (PCSK9) or low density lipoprotein receptor adaptor protein (LDLRAP1). These mutations lead to an increase of low density lipoprotein cholesterol (LDL-C) in the blood starting at birth. A particularly serve consequence of this long-term exposure of elevated LDL-C is an early onset of cardiovascular disease (CVD).
Since the usually used clinical blood lipid parameters such as LDL-C and total cholesterol do not allow an exact categorization of the severity of the disease, advanced analysis on lipoprotein subclasses with much more precise parameters like lipoprotein particle size or density and lipid composition of the various lipoprotein subclasses could improve the understanding of CVD etiology and disease prediction. In the past decade, high-throughput nuclear magnetic resonance (NMR) spectroscopy has improved lipoprotein measurements and has been used and described in a various number of publications. The analyses are including particle concentration and lipid composition of different lipoprotein subclasses. There is evidence that FH leads to a shift in the different lipoprotein subclasses, but these findings have not yet been adequately investigated in a paediatric cohort and it still has to be clarified if these findings are clinically relevant. Our aims are to evaluate specific lipidomic biomarkers in paediatric patients with familial hypercholesterolemia and determine biomarkers that are associated with a higher risk of premature CVD.

Methods and Skills: 

Clinical studies; Elisa