TY - JOUR
T1 - Clinical Genetic Testing for Familial Hypercholesterolemia
T2 - JACC Scientific Expert Panel
AU - Sturm, Amy C.
AU - Knowles, Joshua W.
AU - Gidding, Samuel S.
AU - Ahmad, Zahid S.
AU - Ahmed, Catherine D.
AU - Ballantyne, Christie M.
AU - Baum, Seth J.
AU - Bourbon, Mafalda
AU - Carrié, Alain
AU - Cuchel, Marina
AU - de Ferranti, Sarah D.
AU - Defesche, Joep C.
AU - Freiberger, Tomas
AU - Hershberger, Ray E.
AU - Hovingh, G. Kees
AU - Karayan, Lala
AU - Kastelein, Johannes Jacob Pieter
AU - Kindt, Iris
AU - Lane, Stacey R.
AU - Leigh, Sarah E.
AU - Linton, MacRae F.
AU - Mata, Pedro
AU - Neal, William A.
AU - Nordestgaard, Børge G.
AU - Santos, Raul D.
AU - Harada-Shiba, Mariko
AU - Sijbrands, Eric J.
AU - Stitziel, Nathan O.
AU - Yamashita, Shizuya
AU - Wilemon, Katherine A.
AU - Ledbetter, David H.
AU - Rader, Daniel J.
AU - Convened by the Familial Hypercholesterolemia Foundation
PY - 2018
Y1 - 2018
N2 - 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 to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.
AB - 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 to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.
KW - cascade testing
KW - consensus statement
KW - familial hypercholesterolemia
KW - genetic counseling
KW - genetic testing
U2 - 10.1016/j.jacc.2018.05.044
DO - 10.1016/j.jacc.2018.05.044
M3 - Review
C2 - 30071997
AN - SCOPUS:85050353019
SN - 0735-1097
VL - 72
SP - 662
EP - 680
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 6
ER -