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

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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 , Boren , 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 , Masana , L , Nordestgaard , B G , Pajukanta , P , Parhofer , K G , Raal , F J , Ray , K K , Santos , R D , Stalenhoef , A F H , Steinhagen-Thiessen , E , Stroes , E S , Taskinen , M-R , Tybjaerg-Hansen , A , Wiklund , O & European Atherosclerosis Soc Conse 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-U34 . https://doi.org/10.1093/eurheartj/ehv157

Title: Familial hypercholesterolaemia in children and adolescents : gaining decades of life by optimizing detection and treatment
Author: Wiegman, Albert; Gidding, Samuel S.; Watts, Gerald F.; Chapman, M. John; Ginsberg, Henry N.; Cuchel, Marina; Ose, Leiv; Averna, Maurizio; Boileau, Catherine; Boren, Jan; Bruckert, Eric; Catapano, Alberico L.; Defesche, Joep C.; Descamps, Olivier S.; Hegele, Robert A.; Hovingh, G. Kees; Humphries, Steve E.; Kovanen, Petri T.; Kuivenhoven, Jan Albert; Masana, Luis; Nordestgaard, Borge G.; Pajukanta, Paevi; Parhofer, Klaus G.; Raal, Frederick J.; Ray, Kausik K.; Santos, Raul D.; Stalenhoef, Anton F. H.; Steinhagen-Thiessen, Elisabeth; Stroes, Erik S.; Taskinen, Marja-Riitta; Tybjaerg-Hansen, Anne; Wiklund, Olov; European Atherosclerosis Soc Conse
Contributor: University of Helsinki, Wihuri Res Inst
University of Helsinki, Research Programs Unit
Date: 2015-09-21
Language: eng
Number of pages: 17
Belongs to series: European Heart Journal
ISSN: 0195-668X
URI: http://hdl.handle.net/10138/225085
Abstract: 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 a parts per thousand yen5 mmol/L (190 mg/dL), or an LDL-C a parts per thousand yen4 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 a parts per thousand yen3.5 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.
Subject: Familial hypercholesterolaemia
Children
Adolescents
LDL cholesterol
Diagnosis
Treatment
Statin
Ezetimibe
PCSK9 inhibitor
Consensus statement
LOW-DENSITY-LIPOPROTEIN
ASSOCIATION EXPERT PANEL
COST-EFFECTIVENESS ANALYSIS
INTIMA-MEDIA THICKNESS
CORONARY-HEART-DISEASE
BLOOD-PRESSURE RESEARCH
CARDIOVASCULAR-DISEASE
STATIN THERAPY
YOUNG-ADULTS
ENDOTHELIAL FUNCTION
3121 General medicine, internal medicine and other clinical medicine
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