134
Views
33
CrossRef citations to date
0
Altmetric
Review

The genetics of familial hypercholesterolemia and emerging therapies

Pages 27-36 | Published online: 28 Jan 2015

References

  • NordestgaardBGChapmanMJHumphriesSEEuropean Atherosclerosis Society Consensus PanelFamilial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis SocietyEur Heart J2013344534783490a23956253
  • Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register GroupAtherosclerosis199914211051129920511
  • National Institute for Health and Care Excellence [webpage on the Internet]Identification and management of familial hypercholesterolaemiaLondon, UKNational Institute for Health Care and Excellence2008 Available from: http://www.nice.org.uk/CG071. Accessed
  • BennMWattsGFTybjaerg-HansenANordestgaardBGFamilial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medicationJ Clin Endocrinol Metab201297113956396422893714
  • GoldbergACHopkinsPNTothPPNational Lipid Association Expert Panel on Familial HypercholesterolemiaFamilial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial HypercholesterolemiaJ Clin Lipidol20115Suppl 3S1S821600525
  • CatapanoALChapmanJWiklundOTaskinenMRThe new joint EAS/ESC guidelines for the management of dyslipidaemiasAtherosclerosis20112171121722901
  • WattsGFGiddingSWierzbickiASIntegrated guidance on the care of familial hypercholesterolemia from the International FH FoundationJ Clin Lipidol20148214817224636175
  • GoldsteinJLBrownMSMolecular medicine. The cholesterol quartetScience200129255201310131211360986
  • SjoukeBKustersDMKindtIHomozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcomeEur Heart J EpubFeburary282014
  • StoneNJRobinsonJGLichtensteinAH2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice GuidelinesCirculation201412925 Suppl 2S1S4524222016
  • GoldsteinJLBrownMSFamilial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterolProc Natl Acad Sci U S A19737010280428084355366
  • BrownMSGoldsteinJLFamilial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activityProc Natl Acad Sci U S A19747137887924362634
  • UsifoELeighSEWhittallRALow-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessmentAnn Hum Genet201276538740122881376
  • InnerarityTLMahleyRWWeisgraberKHFamilial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemiaJ Lipid Res1990318133713492280177
  • SoufiMSattlerAMMaerzWA new but frequent mutation of apoB-100-apoB His3543TyrAtherosclerosis20041741111615135245
  • CohenJCBoerwinkleEMosleyTHJrHobbsHHSequence variations in PCSK9, low LDL, and protection against coronary heart diseaseN Engl J Med2006354121264127216554528
  • GarutiRJonesCLiWPThe modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pitsJ Biol Chem200528049409964100416179341
  • CuchelMBruckertEGinsbergHNEuropean Atherosclerosis Society Consensus Panel on Familial HypercholesterolaemiaHomozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis SocietyEur Heart J201435322146215725053660
  • VogtAKellerCHeiglCWeissNZöllnerNTwo forms of familial hypercholesterolemia: differences in cardiovascular risk factors, cardiac and extracardiac atherosclerosisDtsch Med Wochenschr Epub8152014 German
  • WangJJoyTMyminDFrohlichJHegeleRAPhenotypic heterogeneity of sitosterolemiaJ Lipid Res200445122361236715375183
  • AllenJMThompsonGRMyantNBSteinerROakleyCMCadiovascular complications of homozygous familial hypercholesterolaemiaBr Heart J19804443613687426196
  • NenseterMSLindvigHWUelandTLipoprotein(a) levels in coronary heart disease-susceptible and -resistant patients with familial hypercholesterolemiaAtherosclerosis2011216242643221376325
  • JansenACvan Aalst-CohenESTanckMWThe contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patientsJ Intern Med2004256648249015554949
  • WilliamsRRHuntSCSchumacherMCDiagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular geneticsAm J Cardiol19937221711768328379
  • SprecherDLSchaeferEJKentKMCardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patientsAm J Cardiol198454120306331147
  • RafeiyianSMojtahedzadehSHekmatMSupravalvular and valvular aortic stenosis in heterozygous familial hypercholesterolemiaMed Princ Pract200716431531717541299
  • WiegmanAde GrootEHuttenBAArterial intima-media thickness in children heterozygous for familial hypercholesterolaemiaLancet2004363940636937015070569
  • GyllingHPlatJTurleySEuropean Atherosclerosis Society Consensus Panel on PhytosterolsPlant sterols and plant stanols in the management of dyslipidaemia and prevention of cardiovascular diseaseAtherosclerosis2014232234636024468148
  • BaigentCKeechAKearneyPMCholesterol Treatment Trialists’ (CTT) CollaboratorsEfficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statinsLancet200536694931267127816214597
  • VersmissenJOosterveerDMYazdanpanahMEfficacy of statins in familial hypercholesterolemia: a long term cohort studyBMJ2008337a242319001495
  • van der GraafACuffie-JacksonCVissersMNEfficacy and safety of coadministration of ezetimibe and simvastatin in adolescents with heterozygous familial hypercholesterolemiaJ Am Coll Cardiol200852171421142918940534
  • ElisAZhouRSteinEATreatment of familial hypercholesterolaemia in children and adolescents in the last three decadesCardiol Young201424343744123659280
  • TonstadSSivertsenMAksnesLOseLLow dose colestipol in adolescents with familial hypercholesterolaemiaArch Dis Child19967421571608660081
  • HuijgenRAbbinkEJBruckertETriple Study GroupColesevelam added to combination therapy with a statin and ezetimibe in patients with familial hypercholesterolemia: a 12-week, multicenter, randomized, double-blind, controlled trialClin Ther201032461562520435231
  • NordestgaardBGChapmanMJRayKEuropean Atherosclerosis Society Consensus PanelLipoprotein(a) as a cardiovascular risk factor: current statusEur Heart J201031232844285320965889
  • PijlmanAHHuijgenRVerhagenSNEvaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The NetherlandsAtherosclerosis2010209118919419818960
  • ThompsonGRLipoprotein apheresisCurr Opin Lipidol201021648749121206339
  • KroonAAAengevaerenWRvan der WerfTLDL-Apheresis Atherosclerosis Regression Study (LAARS). Effect of aggressive versus conventional lipid lowering treatment on coronary atherosclerosisCirculation19969310182618358635262
  • WintersJLLipid apheresis, indications, and principlesJ Clin Apher201126526927521834078
  • Gemeinsamer BundesausschussRichtlinie des Gemeinsamen Bundesausschusses zu Untersuchungs- und Behandlungsmethoden der vertragsärztlichen VersorgungBerlin, Germany:Bundesanzeiger2014 German
  • ThompsonGRLowenthalRMyantNBPlasma exchange in the management of homozygous familial hypercholesterolaemiaLancet1975179181208121148833
  • ThompsonGRHEART-UK LDL Apheresis Working GroupRecommendations for the use of LDL apheresisAtherosclerosis2008198224725518371971
  • GræsdalABogsrudMPHolvenKBApheresis in homozygous familial hypercholesterolemia: the results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemiaJ Clin Lipidol20126433133922836070
  • KellerCLDL-apheresis in homozygous LDL-receptor-defective familial hypercholesterolemia: the Munich experienceAtheroscler Suppl2009105212620129369
  • MabuchiHKoizumiJShimizuMLong-term efficacy of low-density lipoprotein apheresis on coronary heart disease in familial hypercholesterolemia. Hokuriku-FH-LDL-Apheresis Study GroupAm J Cardiol19988212148914959874053
  • NorataGDBallantyneCMCatapanoALNew therapeutic principles in dyslipidaemia: focus on LDL and Lp(a) lowering drugsEur Heart J201334241783178923509227
  • KramerWNovel drug approaches in development for the treatment of lipid disordersExp Clin Endocrinol Diabetes20131211056758024002899
  • RaderDJKasteleinJJLomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemiaCirculation201412991022103224589695
  • ParhoferKGMipomersen: evidence-based review of its potential in the treatment of homozygous and severe heterozygous familial hypercholesterolemiaCore Evid20127293822701100
  • YuRZGearyRSFlaimJDLack of pharmacokinetic interaction of mipomersen sodium (ISIS 301012), a 2′-O-methoxyethyl modified antisense oligonucleotide targeting apolipoprotein B-100 messenger RNA, with simvastatin and ezetimibeClin Pharmacokinet2009481395019071883
  • AkdimFVisserMETribbleDLEffect of mipomersen, an apolipoprotein B synthesis inhibitor, on low-density lipoprotein cholesterol in patients with familial hypercholesterolemiaAm J Cardiol2010105101413141920451687
  • AkdimFTribbleDLFlaimJDEfficacy of apolipoprotein B synthesis inhibition in subjects with mild-to-moderate hyperlipidaemiaEur Heart J201132212650265921593041
  • AkdimFStroesESSijbrandsEJEfficacy and safety of mipomersen, an antisense inhibitor of apolipoprotein B, in hypercholesterolemic subjects receiving stable statin therapyJ Am Coll Cardiol201055151611161820378080
  • RaalFJSantosRDBlomDJMipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trialLancet20103759719998100620227758
  • SteinEADufourRGagneCApolipoprotein B synthesis inhibition with mipomersen in heterozygous familial hypercholesterolemia: results of a randomized, double-blind, placebo-controlled trial to assess efficacy and safety as add-on therapy in patients with coronary artery diseaseCirculation2012126192283229223060426
  • Sanofi (Genzyme, a Sanofi Company)A study of the safety and efficacy of two different regimens of mipomersen in patients with familial hypercholesterolemia and inadequately controlled low-density lipoprotein cholesterol (FOCUS FH) Available from: http://clinicaltrials.gov/show/NCT01475825. NLM identifier: NCT01475825Accessed October 20, 2014
  • VogtAParhoferKGThe potential of mipomersen, an ApoB synthesis inhibitor, to reduce necessity for LDL-apheresis in patients with heterozygous familial hypercholesterolemia and coronary artery diseaseExpert Opin Pharmacother201314669169723477485
  • Ludwig-Maximilians – University of MunichEffect of mipomersen on LDL-cholesterol in patients treated by regular apheresis (MICA) Available from: http://clinicaltrials.gov/ct2/show/NCT01598948. NLM identifier: NCT01598948Accessed October 20, 2014
  • Genzyme, A Sanofi Company [webpage on the Internet]KYNAMRO risk evaluation and mitigation strategy (REMS)Cambridge, MAGenzyme Corporation2013 Available from: http://www.kynamrorems.comAccessed October 20, 2014
  • CuchelMMeagherEAdu Toit TheronHPhase 3 HoFH Lomitapide Study investigatorsEfficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 studyLancet20133819860404623122768
  • Aegerion Pharmaceuticals, Inc. [webpage on the Internet]JUXTAPID REMS ProgramCambridge, MAAegerion Pharmaceuticals2012 Available from: http://www.juxtapidremsprogram.com. Accessed
  • RodenburgJVissersMNWiegmanAStatin treatment in children with familial hypercholesterolemia: the younger, the betterCirculation2007116666466817664376
  • VuorioAKuoppalaJKovanenPTStatins for children with familial hypercholesterolemiaCochrane Database Syst Rev20147CD00640125054950
  • TonstadSNøvikTSVandvikIHPsychosocial function during treatment for familial hypercholesterolemiaPediatrics1996982 Pt 12492558692626
  • TonstadSFamilial hypercholesterolaemia: a pilot study of parents’ and children’s concernsActa Paediatr19968511130713138955457
  • HyttinenLKekäläinenPVuorioAFSintonenHStrandbergTEHealth-related quality of life in elderly patients with familial hypercholesterolemiaInt J Technol Assess Health Care200824222823418400127
  • VogtADiagnostik und Therapie. Schwere, asymptotische Hypercholesterinämie im jungen Lebensalter [Diagnosis and therapy. Severity, asymptotic hypercholesterolemia at a young age]CardioVasc20131363943 German
  • VogtASchwere, asymptotische Hypercholesterinämie im jungen Lebensalter. Diagnostik und TherapieCardiovasc20131363944