ESPE Abstracts

Background: Familial hypercholesterolemia (FH) leads to markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and is associated with a significantly increased cardiovascular mortality already in childhood and adolescence. FH is caused by dominant mutations in the genes encoding LDL-receptor (LDLR), ApoB-100 and protein convertase subtilin/kexin9 (PCSK9), whereas rarely recessive forms due to mutations in LDL receptor adaptor protein 1 (LDLRAP1...