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

Show full item record




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 organization: Research Programs Unit
Marja-Riitta Taskinen Research Group
Department of Medicine
Diabetes and Obesity Research Program
Kardiologian yksikkö
Date: 2015-09-21
Language: eng
Number of pages: 17
Belongs to series: European Heart Journal
ISSN: 0195-668X
DOI: https://doi.org/10.1093/eurheartj/ehv157
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
LDL cholesterol
PCSK9 inhibitor
Consensus statement
3121 General medicine, internal medicine and other clinical medicine
Peer reviewed: Yes
Rights: cc_by_nc
Usage restriction: openAccess
Self-archived version: publishedVersion

Files in this item

Total number of downloads: Loading...

Files Size Format View
60596117_6b0f_4418_a7cb_6fe944ef81a7.pdf 904.0Kb PDF View/Open

This item appears in the following Collection(s)

Show full item record