Defining severe familial hypercholesterolaemia and the
implications for clinical management: a consensus statement
from the International Atherosclerosis Society Severe Familial
Hypercholesterolemia Panel

J 2016

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

SANTOS, R., S. GIDDING, R. HEGELE, M. CUCHEL, P. BARTER et. al.

Základní údaje

Originální název

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

Autoři

SANTOS, R. (840 Spojené státy), S. GIDDING (840 Spojené státy), R. HEGELE (124 Kanada), M. CUCHEL (840 Spojené státy), P. BARTER (840 Spojené státy), G. WATTS (840 Spojené státy), S. BAUM (840 Spojené státy), A. CATAPANO (380 Itálie), MJ. CHAPMAN (250 Francie), J. DEFESCHE (528 Nizozemské království), F. FOLCO (380 Itálie), Tomáš FREIBERGER (203 Česká republika, garant, domácí), J. GENEST (124 Kanada), GK. HOVINGH (528 Nizozemské království), M. HARADA-SHIBA (840 Spojené státy), S. HUMPHRIES (826 Velká Británie a Severní Irsko), A. JACKSON (840 Spojené státy), P. MATA (724 Španělsko), P. MORIARTY (840 Spojené státy), F. RAAL (840 Spojené státy), K. AL-RASADI (840 Spojené státy), K. RAY (826 Velká Británie a Severní Irsko), Z. REINER (191 Chorvatsko), E. SIJBRANDS (528 Nizozemské království) a S. YAMASHITA (840 Spojené státy)

Vydání

Lancet Diabetes & Endocrinology, New York, ELSEVIER SCIENCE INC, 2016, 2213-8587

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30202 Endocrinology and metabolism

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 19.742

Kód RIV

RIV/00216224:14740/16:00093599

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1016/S2213-8587(16)30041-9

UT WoS

000393025100026

Klíčová slova anglicky

familial hypercholesterolaemia; clinical management; consensus statement

Štítky

rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 7. 3. 2017 12:34, Mgr. Eva Špillingová

Anotace

V originále

Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk stratification. Individuals with severe familial hypercholesterolaemia might benefit in particular from early and more aggressive cholesterol-lowering treatment (eg, with PCSK9 inhibitors). In addition to better tailored therapy, more precise characterisation of individuals with severe familial hypercholesterolaemia could improve resource use.

Citovat

SANTOS, R., S. GIDDING, R. HEGELE, M. CUCHEL, P. BARTER, G. WATTS, S. BAUM, A. CATAPANO, MJ. CHAPMAN, J. DEFESCHE, F. FOLCO, Tomáš FREIBERGER, J. GENEST, GK. HOVINGH, M. HARADA-SHIBA, S. HUMPHRIES, A. JACKSON, P. MATA, P. MORIARTY, F. RAAL, K. AL-RASADI, K. RAY, Z. REINER, E. SIJBRANDS a S. YAMASHITA. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes & Endocrinology. New York: ELSEVIER SCIENCE INC, 2016, roč. 4, č. 10, s. 850-861. ISSN 2213-8587. Dostupné z: https://dx.doi.org/10.1016/S2213-8587(16)30041-9.

@article{1372876,
   author = {Santos, R. and Gidding, S. and Hegele, R. and Cuchel, M. and Barter, P. and Watts, G. and Baum, S. and Catapano, A. and Chapman, MJ. and Defesche, J. and Folco, F. and Freiberger, Tomáš and Genest, J. and Hovingh, GK. and HaradaandShiba, M. and Humphries, S. and Jackson, A. and Mata, P. and Moriarty, P. and Raal, F. and AlandRasadi, K. and Ray, K. and Reiner, Z. and Sijbrands, E. and Yamashita, S.},
   article_location = {New York},
   article_number = {10},
   doi = {http://dx.doi.org/10.1016/S2213-8587(16)30041-9},
   keywords = {familial hypercholesterolaemia; clinical management; consensus statement},
   language = {eng},
   issn = {2213-8587},
   journal = {Lancet Diabetes & Endocrinology},
   title = {Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel},
   url = {https://is.muni.cz/auth/publikace/vyber_publikaci},
   volume = {4},
   year = {2016}
}

TY  - JOUR
ID  - 1372876
AU  - Santos, R. - Gidding, S. - Hegele, R. - Cuchel, M. - Barter, P. - Watts, G. - Baum, S. - Catapano, A. - Chapman, MJ. - Defesche, J. - Folco, F. - Freiberger, Tomáš - Genest, J. - Hovingh, GK. - Harada-Shiba, M. - Humphries, S. - Jackson, A. - Mata, P. - Moriarty, P. - Raal, F. - Al-Rasadi, K. - Ray, K. - Reiner, Z. - Sijbrands, E. - Yamashita, S.
PY  - 2016
TI  - Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel
JF  - Lancet Diabetes & Endocrinology
VL  - 4
IS  - 10
SP  - 850-861
EP  - 850-861
PB  - ELSEVIER SCIENCE INC
SN  - 22138587
KW  - familial hypercholesterolaemia
KW  - clinical management
KW  - consensus statement
UR  - https://is.muni.cz/auth/publikace/vyber_publikaci
L2  - https://is.muni.cz/auth/publikace/vyber_publikaci
N2  - Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk stratification. Individuals with severe familial hypercholesterolaemia might benefit in particular from early and more aggressive cholesterol-lowering treatment (eg, with PCSK9 inhibitors). In addition to better tailored therapy, more precise characterisation of individuals with severe familial hypercholesterolaemia could improve resource use.
ER  -

SANTOS, R., S. GIDDING, R. HEGELE, M. CUCHEL, P. BARTER, G. WATTS, S. BAUM, A. CATAPANO, MJ. CHAPMAN, J. DEFESCHE, F. FOLCO, Tomáš FREIBERGER, J. GENEST, GK. HOVINGH, M. HARADA-SHIBA, S. HUMPHRIES, A. JACKSON, P. MATA, P. MORIARTY, F. RAAL, K. AL-RASADI, K. RAY, Z. REINER, E. SIJBRANDS a S. YAMASHITA. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. \textit{Lancet Diabetes \&{} Endocrinology}. New York: ELSEVIER SCIENCE INC, 2016, roč.~4, č.~10, s.~850-861. ISSN~2213-8587. Dostupné z: https://dx.doi.org/10.1016/S2213-8587(16)30041-9.

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