ABSTRACT
Familial hypercholesterolemia is an autosomal dominant disorder that affects the metabolism of low-density lipoprotein cholesterol (LDL-C) through mutations in the gene for LDL receptor (LDLR), and less commonly in those for apolipoprotein B (APOB), proprotein convertase subtilisin-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.
Footnotes
Dr. Tang has disclosed serving as a consultant for MyoKardia and Sequana Medical.
- Copyright © 2020 The Cleveland Clinic Foundation. All Rights Reserved.
- Nishant P. Shah, MD⇑
- Duke Heart Center; Assistant Professor of Medicine in Cardiology, Duke University School of Medicine, Durham, NC
- Address: Nishant P. Shah, MD, Duke Heart Center, 234 Crooked Creek Parkway, Suite 540, Durham, NC 27713-8507; nishant.shah{at}duke.edu
- W. H. Wilson Tang, MD
ABSTRACT
Familial hypercholesterolemia is an autosomal dominant disorder that affects the metabolism of low-density lipoprotein cholesterol (LDL-C) through mutations in the gene for LDL receptor (LDLR), and less commonly in those for apolipoprotein B (APOB), proprotein convertase subtilisin-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.
Footnotes
Dr. Tang has disclosed serving as a consultant for MyoKardia and Sequana Medical.
- Copyright © 2020 The Cleveland Clinic Foundation. All Rights Reserved.