…a single pathogenic variant have heterozygous FH (HeFH). Biallelic pathogenic variants cause homozygous FH (HoFH), which produces substantially higher LDL C concentrations and much earlier…

…on residual LDL receptor expression. PCSK9 monoclonal antibodies are less effective in homozygous FH when residual LDL receptor function is limited. Clinical Indications PCSK9 inhibitors…

…from the blood. Individuals with familial hypercholesterolemia may have either one defect gene copy (heterozygous FH) or two defect gene copies (homozygous FH). Heterozygous FH…