title: Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
abstract: OBJECTIVE
  The first aim was to critically evaluate the extent to which familial hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to provide guidance for screening and treatment of FH, in order to prevent coronary heart disease (CHD).
  
  
  RESULTS
  Of the theoretical estimated prevalence of 1/500 for heterozygous FH, <1% are diagnosed in most countries. Recently, direct screening in a Northern European general population diagnosed approximately 1/200 with heterozygous FH. All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with FH, and up to 13-fold increased risk of CHD. Based on prevalences between 1/500 and 1/200, between 14 and 34 million individuals worldwide have FH. We recommend that children, adults, and families should be screened for FH if a person or family member presents with FH, a plasma cholesterol level in an adult ≥8 mmol/L(≥310 mg/dL) or a child ≥6 mmol/L(≥230 mg/dL), premature CHD, tendon xanthomas, or sudden premature cardiac death. In FH, low-density lipoprotein cholesterol targets are <3.5 mmol/L(<135 mg/dL) for children, <2.5 mmol/L(<100 mg/dL) for adults, and <1.8 mmol/L(<70 mg/dL) for adults with known CHD or diabetes. In addition to lifestyle and dietary counselling, treatment priorities are (i) in children, statins, ezetimibe, and bile acid binding resins, and (ii) in adults, maximal potent statin dose, ezetimibe, and bile acid binding resins. Lipoprotein apheresis can be offered in homozygotes and in treatment-resistant heterozygotes with CHD.
  
  
  CONCLUSIONS
  Owing to severe underdiagnosis and undertreatment of FH, there is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition.
authors: Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, DK-2730 Herlev, Copenhagen, Denmark.
authors: Børge G
authors: BG
authors: Nordestgaard
authors: M John
authors: MJ
authors: Chapman
authors: Steve E
authors: SE
authors: Humphries
authors: Henry N
authors: HN
authors: Ginsberg
authors: Luis
authors: L
authors: Masana
authors: Olivier S
authors: OS
authors: Descamps
authors: Olov
authors: O
authors: Wiklund
authors: Robert A
authors: RA
authors: Hegele
authors: Frederick J
authors: FJ
authors: Raal
authors: Joep C
authors: JC
authors: Defesche
authors: Albert
authors: A
authors: Wiegman
authors: Raul D
authors: RD
authors: Santos
authors: Gerald F
authors: GF
authors: Watts
authors: Klaus G
authors: KG
authors: Parhofer
authors: G Kees
authors: GK
authors: Hovingh
authors: Petri T
authors: PT
authors: Kovanen
authors: Catherine
authors: C
authors: Boileau
authors: Maurizio
authors: M
authors: Averna
authors: Jan
authors: J
authors: Borén
authors: Eric
authors: E
authors: Bruckert
authors: Alberico L
authors: AL
authors: Catapano
authors: Jan Albert
authors: JA
authors: Kuivenhoven
authors: Päivi
authors: P
authors: Pajukanta
authors: Kausik
authors: K
authors: Ray
authors: Anton F H
authors: AF
authors: Stalenhoef
authors: Erik
authors: E
authors: Stroes
authors: Marja-Riitta
authors: MR
authors: Taskinen
authors: Anne
authors: A
authors: Tybjærg-Hansen
mesh_terms: D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D050197:Atherosclerosis / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D008078:Cholesterol, LDL / Q000097:blood; D003327:Coronary Disease / Q000517:prevention & control*; D003362:Cost-Benefit Analysis; D003695:Delivery of Health Care; D042241:Early Diagnosis; D005260:Female; D005544:Forecasting; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D018570:Risk Assessment; D016896:Treatment Outcome
chemical_list: D000924:Anticholesteremic Agents; D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors
keywords: Atherosclerosis; Cardiovascular disease; Cholesterol; Coronary heart disease; Low-density lipoprotein
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