Abstract
Familial hypercholesterolemia is one of the most common autosomal dominant inherited genetic disorders, yet it is frequently undiagnosed, leading to a markedly increased risk for cardiovascular events. Understanding the pathophysiology of the disease as well as the importance of cascade screening is critical to appropriate treatment of patients. Though the mainstay of therapy for heterozygous familial hypercholesterolemia remains statins, many patients require additional therapy including ezetimibe and/or proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies to achieve adequate low-density lipoprotein cholesterol (LDL-C) lowering. Access to PCSK9 inhibitors remains a significant clinical problem.
MeSH terms
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Biomarkers / blood
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Cholesterol, LDL / blood*
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Drug Therapy, Combination
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Ezetimibe / adverse effects
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Ezetimibe / therapeutic use*
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Genetic Predisposition to Disease
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Humans
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Hydroxymethylglutaryl-CoA Reductase Inhibitors / adverse effects
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Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use*
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Hyperlipoproteinemia Type II / blood
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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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PCSK9 Inhibitors
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Phenotype
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Proprotein Convertase 9 / metabolism
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Risk Factors
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Serine Proteinase Inhibitors / adverse effects
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Serine Proteinase Inhibitors / therapeutic use*
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Time Factors
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Treatment Outcome
Substances
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Biomarkers
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Cholesterol, LDL
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Hydroxymethylglutaryl-CoA Reductase Inhibitors
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PCSK9 Inhibitors
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Serine Proteinase Inhibitors
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PCSK9 protein, human
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Proprotein Convertase 9
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Ezetimibe