title: Familial hypercholesterolaemia: pilot study to identify children at risk.
abstract: OBJECTIVE
  To evaluate a more effective method of identifying children with familial hypercholesterolaemia by screening a population at high risk.
  
  
  METHODS
  Domiciliary measurement of random cholesterol concentration was made in 200 children who were first or second degree relatives of subjects with premature onset coronary artery disease. Measurements were taken by a health visitor using a portable analyser.
  
  
  RESULTS
  Twelve new cases of familial hypercholesterolaemia were identified during the first nine months of the study. Random cholesterol concentrations were within the normal range (< 5.2 mmol/l) in 70.5% of samples tested. Forty two (21%) of patients tested had a borderline cholesterol (5.2-5.9 mmol/l) but 50% of these fell within the normal range when fasting capillary samples were analysed. Children with significant hypercholesterolaemia on random testing (concentrations of > 5.9 mmol/l) (8.5%) also had fasting venous blood assayed for high density lipoprotein (HDL) cholesterol and tri-glyceride in the laboratory. Results indicated that 6.5% of patients screened were at high risk of cardiovascular disease (ratio of total: HDL cholesterol of > 4.5), and 1% had a moderately increased risk (ratio 3.5-4.5).
  
  
  CONCLUSIONS
  Children with familial hypercholesterolaemia can be identified from a selected "high risk" population by measuring random capillary cholesterol concentration.
authors.affiliation: Department of Paediatrics, University of Sheffield.
authors.forename: C J
authors.initials: CJ
authors.lastname: Taylor
authors.forename: S
authors.initials: S
authors.lastname: Olpin
authors.forename: J
authors.initials: J
authors.lastname: Rattenbury
authors.forename: A
authors.initials: A
authors.lastname: Whippey
authors.forename: C
authors.initials: C
authors.lastname: Lunt
authors.forename: N
authors.initials: N
authors.lastname: Beckles-Willson
authors.forename: J
authors.initials: J
authors.lastname: Higginbottom
authors.forename: R J
authors.initials: RJ
authors.lastname: Pollitt
authors.forename: J
authors.initials: J
authors.lastname: Bonham
authors.forename: L S
authors.initials: LS
authors.lastname: Taitz
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000517:prevention & control*; D010865:Pilot Projects; D012307:Risk Factors; D014280:Triglycerides / Q000097:blood
chemical_list: D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D014280:Triglycerides; D002784:Cholesterol