Familial hypercholesterolæmia 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 Tybjealigrg-Hansen, Olov Wiklund, Alberico L. Catapano, Joep C. Defesche, Olivier S. Descamps, Samuel S. Gidding, Henry N. Ginsberg, Robert A. Hegele, Steve E. Humphries, Petri T. Kovanen, Børge G. Nordestgaard, Klaus G. Parhofer, Frederick J. Raal, Kausik K. Ray, Raul D. Santos, Anton F H Stalenhoef, Elisabeth Steinhagen-Thiessen, Erik S. Stroes, Gerald F. Watts

Research output: Contribution to journalArticlepeer-review

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 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 languageEnglish
Pages (from-to)2425-2437
Number of pages13
JournalEuropean Heart Journal
Volume36
Issue number36
DOIs
Publication statusPublished - Sep 21 2015

Keywords

  • Adolescents
  • Children
  • Consensus statement
  • Diagnosis
  • Ezetimibe
  • Familial hypercholesterolæmia
  • LDL cholesterol
  • PCSK9 inhibitor
  • Statin
  • Treatment

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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