Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

Albert Wiegman; Samuel S Gidding; Gerald F Watts; M John Chapman; Henry N Ginsberg; Marina Cuchel; Leiv Ose; Maurizio Averna; Catherine Boileau; Jan Borén; Eric Bruckert; Alberico L Catapano; Joep C Defesche; Olivier S Descamps; Robert A Hegele; G Kees Hovingh; Steve E Humphries; Petri T Kovanen; Jan Albert Kuivenhoven; Luis Masana; Børge G Nordestgaard; Päivi Pajukanta; Klaus G Parhofer; Frederick J Raal; Kausik K Ray; Raul D Santos; Anton F H Stalenhoef; Elisabeth Steinhagen-Thiessen; Erik S Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen; Olov Wiklund; European Atherosclerosis Society Consensus Panel

doi:10.1093/eurheartj/ehv157

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

Albert Wiegman, Samuel S Gidding, Gerald F Watts, M John Chapman, Henry N Ginsberg, Marina Cuchel, Leiv Ose, Maurizio Averna, Catherine Boileau, Jan Borén, Eric Bruckert, Alberico L Catapano, Joep C Defesche, Olivier S Descamps, Robert A Hegele, G Kees Hovingh, Steve E Humphries, Petri T Kovanen, Jan Albert Kuivenhoven, Luis MasanaBørge G Nordestgaard, Päivi Pajukanta, Klaus G Parhofer, Frederick J Raal, Kausik K Ray, Raul D Santos, Anton F H Stalenhoef, Elisabeth Steinhagen-Thiessen, Erik S Stroes, Marja-Riitta Taskinen, Anne Tybjærg-Hansen, Olov Wiklund, European Atherosclerosis Society Consensus Panel

Department of Clinical Medicine

375 Citations (Scopus)

Abstract

Familial hypercholesterolæmia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolæmia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C ≥5 mmol/L (190 mg/dL), or an LDL-C ≥4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is <3.5 mmol/L (130 mg/dL) if >10 years, or ideally 50% reduction from baseline if 8-10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH.

Original language	English
Journal	European Heart Journal
Volume	36
Issue number	36
Pages (from-to)	2425-37
Number of pages	13
ISSN	0195-668X
DOIs	https://doi.org/10.1093/eurheartj/ehv157
Publication status	Published - 21 Sept 2015

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Wiegman, A., Gidding, S. S., Watts, G. F., Chapman, M. J., Ginsberg, H. N., Cuchel, M., Ose, L., Averna, M., Boileau, C., Borén, J., Bruckert, E., Catapano, A. L., Defesche, J. C., Descamps, O. S., Hegele, R. A., Hovingh, G. K., Humphries, S. E., Kovanen, P. T., Kuivenhoven, J. A., ... European Atherosclerosis Society Consensus Panel (2015). Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. European Heart Journal, 36(36), 2425-37. https://doi.org/10.1093/eurheartj/ehv157

Wiegman, A, Gidding, SS, Watts, GF, Chapman, MJ, Ginsberg, HN, Cuchel, M, Ose, L, Averna, M, Boileau, C, Borén, J, Bruckert, E, Catapano, AL, Defesche, JC, Descamps, OS, Hegele, RA, Hovingh, GK, Humphries, SE, Kovanen, PT, Kuivenhoven, JA, Masana, L, Nordestgaard, BG, Pajukanta, P, Parhofer, KG, Raal, FJ, Ray, KK, Santos, RD, Stalenhoef, AFH, Steinhagen-Thiessen, E, Stroes, ES, Taskinen, M-R, Tybjærg-Hansen, A, Wiklund, O & European Atherosclerosis Society Consensus Panel 2015, 'Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment', European Heart Journal, vol. 36, no. 36, pp. 2425-37. https://doi.org/10.1093/eurheartj/ehv157

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title = "Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment",

abstract = "Familial hypercholesterol{\ae}mia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterol{\ae}mia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C ≥5 mmol/L (190 mg/dL), or an LDL-C ≥4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is <3.5 mmol/L (130 mg/dL) if >10 years, or ideally 50% reduction from baseline if 8-10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH.",

author = "Albert Wiegman and Gidding, {Samuel S} and Watts, {Gerald F} and Chapman, {M John} and Ginsberg, {Henry N} and Marina Cuchel and Leiv Ose and Maurizio Averna and Catherine Boileau and Jan Bor{\'e}n and Eric Bruckert and Catapano, {Alberico L} and Defesche, {Joep C} and Descamps, {Olivier S} and Hegele, {Robert A} and Hovingh, {G Kees} and Humphries, {Steve E} and Kovanen, {Petri T} and Kuivenhoven, {Jan Albert} and Luis Masana and Nordestgaard, {B{\o}rge G} and P{\"a}ivi Pajukanta and Parhofer, {Klaus G} and Raal, {Frederick J} and Ray, {Kausik K} and Santos, {Raul D} and Stalenhoef, {Anton F H} and Elisabeth Steinhagen-Thiessen and Stroes, {Erik S} and Marja-Riitta Taskinen and Anne Tybj{\ae}rg-Hansen and Olov Wiklund and {European Atherosclerosis Society Consensus Panel}",

note = "{\textcopyright} The Author 2015. Published by Oxford University Press on behalf of the European Society of Cardiology.",

year = "2015",

month = sep,

day = "21",

doi = "10.1093/eurheartj/ehv157",

language = "English",

volume = "36",

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journal = "European Heart Journal",

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TY - JOUR

T1 - Familial hypercholesterolaemia in children and adolescents

T2 - gaining decades of life by optimizing detection and treatment

AU - Wiegman, Albert

AU - Gidding, Samuel S

AU - Watts, Gerald F

AU - Chapman, M John

AU - Ginsberg, Henry N

AU - Cuchel, Marina

AU - Ose, Leiv

AU - Averna, Maurizio

AU - Boileau, Catherine

AU - Borén, Jan

AU - Bruckert, Eric

AU - Catapano, Alberico L

AU - Defesche, Joep C

AU - Descamps, Olivier S

AU - Hegele, Robert A

AU - Hovingh, G Kees

AU - Humphries, Steve E

AU - Kovanen, Petri T

AU - Kuivenhoven, Jan Albert

AU - Masana, Luis

AU - Nordestgaard, Børge G

AU - Pajukanta, Päivi

AU - Parhofer, Klaus G

AU - Raal, Frederick J

AU - Ray, Kausik K

AU - Santos, Raul D

AU - Stalenhoef, Anton F H

AU - Steinhagen-Thiessen, Elisabeth

AU - Stroes, Erik S

AU - Taskinen, Marja-Riitta

AU - Tybjærg-Hansen, Anne

AU - Wiklund, Olov

AU - European Atherosclerosis Society Consensus Panel

PY - 2015/9/21

Y1 - 2015/9/21

N2 - Familial hypercholesterolæmia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolæmia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C ≥5 mmol/L (190 mg/dL), or an LDL-C ≥4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is <3.5 mmol/L (130 mg/dL) if >10 years, or ideally 50% reduction from baseline if 8-10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH.

AB - Familial hypercholesterolæmia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolæmia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C ≥5 mmol/L (190 mg/dL), or an LDL-C ≥4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is <3.5 mmol/L (130 mg/dL) if >10 years, or ideally 50% reduction from baseline if 8-10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH.

U2 - 10.1093/eurheartj/ehv157

DO - 10.1093/eurheartj/ehv157

M3 - Journal article

C2 - 26009596

SN - 0195-668X

VL - 36

SP - 2425

EP - 2437

JO - European Heart Journal

JF - European Heart Journal

IS - 36

ER -

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

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