| STURM, A.C., J.W. KNOWLES, S.S. GIDDING, Z.S. AHMAD, C.D. AHMED, C.M. BALLANTYNE, S.J. BAUM, M. BOURBON, A. CARRIE, M. CUCHEL, S.D. DE FERRANTI, J.C. DEFESCHE, Tomáš FREIBERGER, R.E. HERSHBERGER, G.K. HOVINGH, L. KARAYAN, J.J.P. KASTELEIN, I. KINDT, S.R. LANE, S.E. LEIGH, M.F. LINTON, P. MATA, W.A. NEAL, B.G. NORDESTGAARD, R.D. SANTOS, M. HARADA-SHIBA, E.J. SIJBRANDS, N.O. STITZIEL, S. YAMASHITA, KA WILEMON, D.H. LEDBETTER a D.J. RADER. Clinical Genetic Testing for Familial Hypercholesterolemia. Journal of the American College of Cardiology. New York: Elsevier Science INC, 2018, roč. 72, č. 6, s. 662-680. ISSN 0735-1097. Dostupné z: https://dx.doi.org/10.1016/j.jacc.2018.05.044. |
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@article{1489205,
author = {Sturm, A.C. and Knowles, J.W. and Gidding, S.S. and Ahmad, Z.S. and Ahmed, C.D. and Ballantyne, C.M. and Baum, S.J. and Bourbon, M. and Carrie, A. and Cuchel, M. and de Ferranti, S.D. and Defesche, J.C. and Freiberger, Tomáš and Hershberger, R.E. and Hovingh, G.K. and Karayan, L. and Kastelein, J.J.P. and Kindt, I. and Lane, S.R. and Leigh, S.E. and Linton, M.F. and Mata, P. and Neal, W.A. and Nordestgaard, B.G. and Santos, R.D. and HaradaandShiba, M. and Sijbrands, E.J. and Stitziel, N.O. and Yamashita, S. and Wilemon, KA and Ledbetter, D.H. and Rader, D.J.},
article_location = {New York},
article_number = {6},
doi = {http://dx.doi.org/10.1016/j.jacc.2018.05.044},
keywords = {cascade testing; consensus statement; familial hypercholesterolemia; genetic counseling; genetic testing},
language = {eng},
issn = {0735-1097},
journal = {Journal of the American College of Cardiology},
title = {Clinical Genetic Testing for Familial Hypercholesterolemia},
url = {https://www.sciencedirect.com/science/article/pii/S0735109718350654?via%3Dihub},
volume = {72},
year = {2018}
}
TY - JOUR
ID - 1489205
AU - Sturm, A.C. - Knowles, J.W. - Gidding, S.S. - Ahmad, Z.S. - Ahmed, C.D. - Ballantyne, C.M. - Baum, S.J. - Bourbon, M. - Carrie, A. - Cuchel, M. - de Ferranti, S.D. - Defesche, J.C. - Freiberger, Tomáš - Hershberger, R.E. - Hovingh, G.K. - Karayan, L. - Kastelein, J.J.P. - Kindt, I. - Lane, S.R. - Leigh, S.E. - Linton, M.F. - Mata, P. - Neal, W.A. - Nordestgaard, B.G. - Santos, R.D. - Harada-Shiba, M. - Sijbrands, E.J. - Stitziel, N.O. - Yamashita, S. - Wilemon, KA - Ledbetter, D.H. - Rader, D.J.
PY - 2018
TI - Clinical Genetic Testing for Familial Hypercholesterolemia
JF - Journal of the American College of Cardiology
VL - 72
IS - 6
SP - 662-680
EP - 662-680
PB - Elsevier Science INC
SN - 07351097
KW - cascade testing
KW - consensus statement
KW - familial hypercholesterolemia
KW - genetic counseling
KW - genetic testing
UR - https://www.sciencedirect.com/science/article/pii/S0735109718350654?via%3Dihub
N2 - Although awareness of familial hypercholesterolemia (FH) increasing, this common, potentially fatal, treatable condition emains underdiagnosed, Despite FH being a genetic disorder, genetic testing is rarely used. The Familial. Hypercholeserolemia 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 (PCS10); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes nclude greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk ratification. (C) 2018 by the American College of Cardiology Foundation,
ER -
STURM, A.C., J.W. KNOWLES, S.S. GIDDING, Z.S. AHMAD, C.D. AHMED, C.M. BALLANTYNE, S.J. BAUM, M. BOURBON, A. CARRIE, M. CUCHEL, S.D. DE FERRANTI, J.C. DEFESCHE, Tomáš FREIBERGER, R.E. HERSHBERGER, G.K. HOVINGH, L. KARAYAN, J.J.P. KASTELEIN, I. KINDT, S.R. LANE, S.E. LEIGH, M.F. LINTON, P. MATA, W.A. NEAL, B.G. NORDESTGAARD, R.D. SANTOS, M. HARADA-SHIBA, E.J. SIJBRANDS, N.O. STITZIEL, S. YAMASHITA, KA WILEMON, D.H. LEDBETTER a D.J. RADER. Clinical Genetic Testing for Familial Hypercholesterolemia. \textit{Journal of the American College of Cardiology}. New York: Elsevier Science INC, 2018, roč.~72, č.~6, s.~662-680. ISSN~0735-1097. Dostupné z: https://dx.doi.org/10.1016/j.jacc.2018.05.044.
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