Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
University of Amsterdam · DuPont (United States) · +24 more institutions
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
- FWCI
- 75.07
- Percentile
- 100%
- References
- 154
Authors
32Topics & keywords
- Medicine
- Familial hypercholesterolemia
- Family history
- Life expectancy
- Pediatrics
- Genetic testing
- Internal medicine
- Newborn screening
- Peace, Justice and strong institutions