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Although the primary causes of FH are mutations in the LDLR gene (representing 60%80% of FH patients), mutations in the apolipoprotein B (APOB) gene that cause familial ligand-defective apoB (often referred to as familial hypercholesterolemia type 2) and gain-of-function mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene are also associated with autosomal dominant forms of familial hypercholesterolemia

Presented for research literature review only Alivand MS et al

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