• Cleve Clin J Med · Feb 2020

    Review

    Familial hypercholesterolemia: Detect, treat, and ask about family.

    • Nishant P Shah, Haitham M Ahmed, and Wilson TangW HWHDepartment of Cardiovascular Medicine, Department of Cellular and Molecular Medicine, Critical Care Center, and Transplantation Center, Heart and Vascular Institute, Cleve-land Clinic; Professor, Cleveland Clinic Lerner College of Medicine.
    • Duke Heart Center; Assistant Professor of Medicine in Cardiology, Duke University School of Medicine, Durham, NC nishant.shah@duke.edu.
    • Cleve Clin J Med. 2020 Feb 1; 87 (2): 109-120.

    AbstractFamilial 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.Copyright © 2020 The Cleveland Clinic Foundation. All Rights Reserved.

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