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

N1 - © The Author 2015. Published by Oxford University Press on behalf of the European Society of Cardiology.

PY - 2015/9/21

Y1 - 2015/9/21

N2 - Familial hypercholesterolaemia (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 hypercholesterolaemia 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 hypercholesterolaemia (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 hypercholesterolaemia 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

VL - 36

SP - 2425

EP - 2437

JO - European Heart Journal

JF - European Heart Journal

SN - 0195-668X

IS - 36

ER -