Possible explanations for the common clinical familial hypercholesterolemia phenotypes in the Faroe Islands

Familial hypercholesterolemia (FH) is characterized by highly elevated plasma low-density lipoprotein cholesterol (LDL-C), a family history of hypercholesterolemia and an increased risk of premature atherosclerotic cardiovascular disease (ASCVD)1. The main genetic causes of FH include loss-of-function mutations in the LDL receptor (LDLR) or apolipoprotein B (APOB) gene and gain-of-function mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene1. However, in approximately 20-40% percent of subjects with definite FH according to clinical diagnostic criteria, no established causal monogenic mutation can be found2.

Source: Journal of Clinical Lipidology - June 25, 2023 Category: Lipidology Authors: Sanna á Borg, Albert Marni Joensen, Michael René Skjelbo Nielsen, Ása Wraae Olsen, Ihab Bishara Yousef Lolas, Henrik Okkels, Søren Lundbye-Christensen, Erik Berg Schmidt, Christian Sørensen Bork Tags: Original Research Source Type: research