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.

Basic information

Original name

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

Authors

SANTOS, R. (840 United States of America), S. GIDDING (840 United States of America), R. HEGELE (124 Canada), M. CUCHEL (840 United States of America), P. BARTER (840 United States of America), G. WATTS (840 United States of America), S. BAUM (840 United States of America), A. CATAPANO (380 Italy), MJ. CHAPMAN (250 France), J. DEFESCHE (528 Netherlands), F. FOLCO (380 Italy), Tomáš FREIBERGER (203 Czech Republic, guarantor, belonging to the institution), J. GENEST (124 Canada), GK. HOVINGH (528 Netherlands), M. HARADA-SHIBA (840 United States of America), S. HUMPHRIES (826 United Kingdom of Great Britain and Northern Ireland), A. JACKSON (840 United States of America), P. MATA (724 Spain), P. MORIARTY (840 United States of America), F. RAAL (840 United States of America), K. AL-RASADI (840 United States of America), K. RAY (826 United Kingdom of Great Britain and Northern Ireland), Z. REINER (191 Croatia), E. SIJBRANDS (528 Netherlands) and S. YAMASHITA (840 United States of America)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30202 Endocrinology and metabolism

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 19.742

RIV identification code

RIV/00216224:14740/16:00093599

Organization unit

Central European Institute of Technology

DOI

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

UT WoS

000393025100026

Keywords in English

familial hypercholesterolaemia; clinical management; consensus statement

Abstract

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 and 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, vol. 4, No 10, p. 850-861. ISSN 2213-8587. Available from: 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 and 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, vol.~4, No~10, p.~850-861. ISSN~2213-8587. Available from: https://dx.doi.org/10.1016/S2213-8587(16)30041-9.

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