Defining severe familial hypercholesterolaemia and the implications for clinical management

A consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

Raul D. Santos, Samuel S. Gidding, Robert A. Hegele, Marina A. Cuchel, Philip J. Barter, Gerald F. Watts, Seth J. Baum, Alberico L. Catapano, M. John Chapman, Joep C. Defesche, Emanuela Folco, Tomas Freiberger, Jacques Genest, G. Kees Hovingh, Mariko Harada-Shiba, Steve E. Humphries, Ann S. Jackson, Pedro Mata, Patrick M. Moriarty, Frederick J. Raal & 5 others Khalid Al-Rasadi, Kausik K. Ray, Zelijko Reiner, Eric J G Sijbrands, Shizuya Yamashita

Research output: Contribution to journalArticle

119 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalThe Lancet Diabetes and Endocrinology
DOIs
Publication statusAccepted/In press - 2016

Fingerprint

Hyperlipoproteinemia Type II
Phenotype
LDL Cholesterol
Coronary Artery Disease
Cardiovascular Diseases
Myocardial Infarction
Cholesterol
Lipids

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Internal Medicine
  • Endocrinology

Cite this

Defining severe familial hypercholesterolaemia and the implications for clinical management : A consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. / Santos, Raul D.; Gidding, Samuel S.; Hegele, Robert A.; Cuchel, Marina A.; Barter, Philip J.; Watts, Gerald F.; Baum, Seth J.; Catapano, Alberico L.; Chapman, M. John; Defesche, Joep C.; Folco, Emanuela; Freiberger, Tomas; Genest, Jacques; Hovingh, G. Kees; Harada-Shiba, Mariko; Humphries, Steve E.; Jackson, Ann S.; Mata, Pedro; Moriarty, Patrick M.; Raal, Frederick J.; Al-Rasadi, Khalid; Ray, Kausik K.; Reiner, Zelijko; Sijbrands, Eric J G; Yamashita, Shizuya.

In: The Lancet Diabetes and Endocrinology, 2016.

Research output: Contribution to journalArticle

Santos, RD, Gidding, SS, Hegele, RA, Cuchel, MA, Barter, PJ, Watts, GF, Baum, SJ, Catapano, AL, Chapman, MJ, Defesche, JC, Folco, E, Freiberger, T, Genest, J, Hovingh, GK, Harada-Shiba, M, Humphries, SE, Jackson, AS, Mata, P, Moriarty, PM, Raal, FJ, Al-Rasadi, K, Ray, KK, Reiner, Z, Sijbrands, EJG & Yamashita, S 2016, 'Defining severe familial hypercholesterolaemia and the implications for clinical management: A consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel', The Lancet Diabetes and Endocrinology. https://doi.org/10.1016/S2213-8587(16)30041-9
Santos, Raul D. ; Gidding, Samuel S. ; Hegele, Robert A. ; Cuchel, Marina A. ; Barter, Philip J. ; Watts, Gerald F. ; Baum, Seth J. ; Catapano, Alberico L. ; Chapman, M. John ; Defesche, Joep C. ; Folco, Emanuela ; Freiberger, Tomas ; Genest, Jacques ; Hovingh, G. Kees ; Harada-Shiba, Mariko ; Humphries, Steve E. ; Jackson, Ann S. ; Mata, Pedro ; Moriarty, Patrick M. ; Raal, Frederick J. ; Al-Rasadi, Khalid ; Ray, Kausik K. ; Reiner, Zelijko ; Sijbrands, Eric J G ; Yamashita, Shizuya. / Defining severe familial hypercholesterolaemia and the implications for clinical management : A consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. In: The Lancet Diabetes and Endocrinology. 2016.
@article{b0e2c6adccbe41ea866d9de45c5e5a79,
title = "Defining severe familial hypercholesterolaemia and the implications for clinical management: A consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel",
abstract = "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.",
author = "Santos, {Raul D.} and Gidding, {Samuel S.} and Hegele, {Robert A.} and Cuchel, {Marina A.} and Barter, {Philip J.} and Watts, {Gerald F.} and Baum, {Seth J.} and Catapano, {Alberico L.} and Chapman, {M. John} and Defesche, {Joep C.} and Emanuela Folco and Tomas Freiberger and Jacques Genest and Hovingh, {G. Kees} and Mariko Harada-Shiba and Humphries, {Steve E.} and Jackson, {Ann S.} and Pedro Mata and Moriarty, {Patrick M.} and Raal, {Frederick J.} and Khalid Al-Rasadi and Ray, {Kausik K.} and Zelijko Reiner and Sijbrands, {Eric J G} and Shizuya Yamashita",
year = "2016",
doi = "10.1016/S2213-8587(16)30041-9",
language = "English",
journal = "The Lancet Diabetes and Endocrinology",
issn = "2213-8587",
publisher = "Elsevier BV",

}

TY - JOUR

T1 - Defining severe familial hypercholesterolaemia and the implications for clinical management

T2 - A consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

AU - Santos, Raul D.

AU - Gidding, Samuel S.

AU - Hegele, Robert A.

AU - Cuchel, Marina A.

AU - Barter, Philip J.

AU - Watts, Gerald F.

AU - Baum, Seth J.

AU - Catapano, Alberico L.

AU - Chapman, M. John

AU - Defesche, Joep C.

AU - Folco, Emanuela

AU - Freiberger, Tomas

AU - Genest, Jacques

AU - Hovingh, G. Kees

AU - Harada-Shiba, Mariko

AU - Humphries, Steve E.

AU - Jackson, Ann S.

AU - Mata, Pedro

AU - Moriarty, Patrick M.

AU - Raal, Frederick J.

AU - Al-Rasadi, Khalid

AU - Ray, Kausik K.

AU - Reiner, Zelijko

AU - Sijbrands, Eric J G

AU - Yamashita, Shizuya

PY - 2016

Y1 - 2016

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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84969962145&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84969962145&partnerID=8YFLogxK

U2 - 10.1016/S2213-8587(16)30041-9

DO - 10.1016/S2213-8587(16)30041-9

M3 - Article

JO - The Lancet Diabetes and Endocrinology

JF - The Lancet Diabetes and Endocrinology

SN - 2213-8587

ER -