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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

Børge G. NordestgaardDepartment of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, DK-2730 Herlev, Copenhagen, DenmarkM. John ChapmanINSERM U939, Pitie -Salpetriere University Hospital, Paris, France;Steve E. HumphriesUniversity College London, London, UK;Henry N. GinsbergColumbia University, New York, NY, USA;L. MasanaUniversitat Rovira & Virgili, Reus, Spain;Olivier DescampsHopital de Jolimont, Haine-Saint-Paul, Belgium;Olov WiklundSahlgrenska University Hospital, Gothenburg, Sweden;Robert A. HegeleUniversity of Western Ontario, London, Canada;Frederick J. RaalUniversity of the Witwatersrand, Johannesburg, South Africa;Joep C. DefescheAcademic Medical Center, Amsterdam, the Netherlands;Albert WiegmanAcademic Medical Center, Amsterdam, the Netherlands;Rodrigo da Silva SantosUniversity of Sao Paulo, Sao Paulo, Brazil;Gerald F. WattsUniversity of Western Australia, Perth, Australia;KG ParhoferUniversity of Munich, Munich, Germany;G. Kees HovinghAcademic Medical Center, Amsterdam, the Netherlands;Petri T. KovanenWihuri Research Institute, Helsinki, Finland;Cathérine BoileauINSERM U698, Paris, France;Maurizio AvernaUniversity of Palermo, Palermo, Italy;Jan BorénUniversity of Gothenburg, Gothenburg, SwedenE. BruckertPitie -Salpetriere University Hospital, Paris, France;Alberico L. CatapanoUniversity of Milan and Multimedica IRCSS Milano, Milan, Italy;Jan Albert KuivenhovenUniversity of Groningen, University Medical Center, Groningen, the Netherlands;P. PajukantaUniversity of California, Los Angeles, CA, USA;Kausik K. RaySt. George's University of London, London, UK;A.F.H. StalenhoefRadboud University Medical Center, Nijmegen, the Netherlands;Erik S.G. StroesAcademic Medical Center, Amsterdam, the Netherlands;Marja‐Riitta TaskinenBiomedicum, Helsinki, Finland; andAnne Tybjærg‐HansenRigshospitalet, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmarkfor the European Atherosclerosis Society Consensus Panel

2013en

ABI

Annotatsiya

AIMS: 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). METHODS AND 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. CONCLUSION: 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.

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DOI: 10.1093/eurheartj/eht273

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