LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.

ABSTRACT:

Background and aims

Cholesterol screening in children, with subsequent genetic testing of top percentile, has been suggested as an efficient universal screening approach in familial hypercholesterolaemia (FH). The potential cholesterol-based screening efficacy was investigated in a national genetically based screening programme.

Methods

Data were from the Norwegian national family cascade screening programme in FH children from 1998 to 2023. Cholesterol levels [umbilical cord in newborns (n = 113) and venous blood in children 1-12 years old (n = 1346)] in variant positive and variant negative children were compared.

Results

LDL cholesterol (LDL-C) was higher in FH newborns vs non-FH newborns [1.22 (.48) vs .68 (.32) mmol/L, P < .001], but overlapped widely. Cut-off le

SUBMITTER: Bogsrud MP 

PROVIDER: S-EPMC12718687 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature