- •Familial hypercholesterolaemia (FH) is a preventable cause of coronary heart disease.
- •Only a minority of individuals with FH have so far been identified.
- •Cascade testing, Child-parent Screening and Child-parent Cascade Screening are feasible.
- •Setting FH identification targets is important.
- •Time to target for different strategies in different populations can be estimated.
Background and aims
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- Risk of fatal coronary heart disease in familial hypercholesterolaemia.BMJ. 1991; 303: 893-896
- Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states.Lancet. 1969 Dec 27; 2: 1380-1382
- Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial.J. Am. Med. Assoc. 2004; 292: 331-337
- Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world?.Eur. Heart J. 2017 21; 38: 1580-1583
- Familial hypercholesterolaemia (FH) genetic testing in the UK.Atherosclerosis Suppl. 2018; 34 (31-e9)
- https://www.longtermplan.nhs.ukDate: 2019Date accessed: July 8, 2019
- The evaluation of cascade testing for familial hypercholesterolemia.Am. J. Med. Genet. 2012; 158A: 78-84
- Child-parent familial hypercholesterolaemia screening in primary care.N. Engl. J. Med. 2016; 375: 1628-1637
- Integration of child-parent screening and cascade testing for familial hypercholesterolemia.J. Med. Screen. 2019; https://doi.org/10.1177/0969141318796856
- Birth by parents' characteristics.Office for National Statistics, 2017https://www.ons.gov.uk/peoplepopulationandcommunity/birthsdeathsandmarriages/livebirths/datasets/birthsbyparentscharacteristics
- National Audit Data (Personal Communication).2019
- England and Wales, Scotland and Northern Ireland.Office for National Statistics, 2017https://www.ons.gov.uk/peoplepopulationandcommunity/populationandmigration/populationestimates/datasets/populationestimatesforukenglandandwalesscotlandandnorthernireland
- Fertility assumptions.(Office for National Statistics)https://www.ons.gov.uk/peoplepopulationandcommunity/populationandmigration/populationprojections/compendium/nationalpopulationprojections/2016basedprojections/fertilityassumptionsDate: 2017
- Deaths and Marriages.Office for National Statistics, 2018https://www.ons.gov.uk/peoplepopulationandcommunity/populationandmigration/populationestimates/datasets/vitalstatisticspopulationandhealthreferencetables
- revision (completed July 2018)) (
- DESA/Populations Division. World Population Prospects.2019
- sg1.4: standard nonlinear curve fits. Stata Technical Bulletin 11: 17.Reprinted in Stata Technical Bulletin Reprints. vol. 2. Stata Press, College Station, TX1993: 121
- Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.Eur. Heart J. 2017; 38: 1832-1839
- Universal screening at age 1-2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: a cost-utility analysis.Atherosclerosis. 2018; 275: 434-443
- Identification and management. Clinical guideline [CG71].
- Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis.BMJ. 2007; 335: 599
- Delivery and impact of the NHS Health Check in the first 8 years: a systematic review.Br. J. Gen. Pract. 2018; 68: e449-e459https://doi.org/10.3399/bjgp18X697649
- Universal screening for familial hypercholesterolemia in children: the Slovenian model and literature review.Atherosclerosis. 2018 Oct; 277: 383-391
- Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents; national heart, lung, and blood Institute. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report.Pediatrics. 2011; 128: S213-S256
- Beyond cascade screening: detection of fa- milial hypercholesterolaemia at childhood immunization and other strategies.Curr. Opin. Lipidol. 2017; 28: 321-327
- Current management of children and young people with heterozygous familial hypercholesterolaemia - HEART UK statement of care.Atherosclerosis. 2019; 290: 1-8
- 20-Year follow-up of statins in children with familial hypercholesterolemia.N. Engl. J. Med. 2019; 381: 1547-1556