Author(s):
Cameron T Lambert,
Pratik Sandesara,
Ijeoma Isiadinso,et al
Added:
3 years ago
Familial hypercholesterolaemia (FH) is an autosomal-dominant disorder associated with mutations in the LDL receptor (LDLR) gene resulting in markedly elevated plasma low-density lipoprotein cholesterol (LDL-C) levels and premature atherosclerotic cardiovascular disease (ASCVD). Heterozygous FH (HeFH) (mutation in one allele) is associated with plasma LDL-C levels >190 mg/dl, whereas homozygous…
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