Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel...

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Bibliographic Details
Published in:Journal of the American College of Cardiology 2018-08, Vol.72 (6), p.662
Main Authors: Sturm, Amy C, Knowles, Joshua W, Gidding, Samuel S, Ahmad, Zahid S, Ahmed, Catherine D, Ballantyne, Christie M, Baum, Seth J, Bourbon, Mafalda, Carrié, Alain, Cuchel, Marina, de Ferranti, Sarah D, Defesche, Joep C, Freiberger, Tomas, Hershberger, Ray E, Hovingh, G Kees, Karayan, Lala, Kastelein, Johannes Jacob Pieter, Kindt, Iris, Lane, Stacey R, Leigh, Sarah E, Linton, MacRae F, Mata, Pedro, Neal, William A, Nordestgaard, Børge G, Santos, Raul D, Harada-Shiba, Mariko, Sijbrands, Eric J, Stitziel, Nathan O, Yamashita, Shizuya, Wilemon, Katherine A, Ledbetter, David H, Rader, Daniel J
Format: Article
Language:English
Subjects:
Age
Angina pectoris
Apolipoprotein B
Apolipoproteins B - blood
Apolipoproteins B - genetics
Cardiology
Cardiovascular disease
Cardiovascular diseases
Deoxyribonucleic acid
DNA
Family medical history
Genetic counseling
Genetic Counseling - methods
Genetic Counseling - standards
Genetic disorders
Genetic screening
Genetic testing
Genetic Testing - methods
Genetic Testing - standards
Heart attacks
Humans
Hypercholesterolemia
Hyperlipoproteinemia Type II - blood
Hyperlipoproteinemia Type II - diagnosis
Hyperlipoproteinemia Type II - genetics
Kexin
Low density lipoprotein receptors
Phenotypes
Proprotein Convertase 9 - blood
Proprotein Convertase 9 - genetics
Proprotein convertases
Receptor density
Receptors, LDL - blood
Receptors, LDL - genetics
Risk assessment
Subtilisin
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