…cardiovascular conditions demonstrate autosomal dominant transmission, in which an affected heterozygous individual has a 50% risk of transmitting the relevant variant to each child. However…

…receptor endocytosis and produce an FH like phenotype. Individuals with a single pathogenic variant have heterozygous FH (HeFH). Biallelic pathogenic variants cause homozygous FH (HoFH…

…when additional LDL C reduction is required, including in patients with atherosclerotic cardiovascular disease (ASCVD) or heterozygous familial hypercholesterolaemia. The broader therapeutic principle is that…

…hypercholesterolemia may have either one defect gene copy (heterozygous FH) or two defect gene copies (homozygous FH). Heterozygous FH results in high LDL cholesterol levels …