Abstract
Familial hypercholesterolemia is an autosomal dominant disorder that affects the metabolism of low-density lipo-protein cholesterol (LDL-C) through mutations in the gene for LDL receptor (LDLR), and less commonly in those for apolipoprotein B (APOB), proprotein convertase subtili-sin-kexin type 9 (PCSK9), and others. Patients with these mutations have elevated plasma levels of LDL-C and, as a result, an increased risk of atherosclerotic cardiovascular disease beginning in childhood, leading to significant risk of illness and death.
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MeSH terms
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Antibodies, Monoclonal, Humanized / therapeutic use
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Anticholesteremic Agents / therapeutic use*
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Genetic Testing
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Humans
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Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use*
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Hyperlipoproteinemia Type II / diagnosis*
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Hyperlipoproteinemia Type II / drug therapy*
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Hyperlipoproteinemia Type II / genetics
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Medical History Taking
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PCSK9 Inhibitors*
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Practice Guidelines as Topic
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Receptors, LDL / genetics
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Risk Assessment
Substances
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Antibodies, Monoclonal, Humanized
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Anticholesteremic Agents
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Hydroxymethylglutaryl-CoA Reductase Inhibitors
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LDLR protein, human
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PCSK9 Inhibitors
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Receptors, LDL
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PCSK9 protein, human
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evolocumab
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alirocumab