reviewEuropean Heart JournalMay 25, 2015GREEN OA

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

University of Amsterdam · DuPont (United States) · +24 more institutions

PubMed
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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…

Citation impact

858
total citations
FWCI
75.07
Percentile
100%
References
154
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Authors

32

Topics & keywords

Keywords
  • Medicine
  • Familial hypercholesterolemia
  • Family history
  • Life expectancy
  • Pediatrics
  • Genetic testing
  • Internal medicine
  • Newborn screening
UN Sustainable Development Goals
  • Peace, Justice and strong institutions
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