717
Views
4
CrossRef citations to date
0
Altmetric
Review

Practical guidelines for familial combined hyperlipidemia diagnosis: an up-date

, , , , &
Pages 877-886 | Published online: 28 Dec 2022

References

  • AbbinkEJDe GraafJDe HaanJHEffects of pioglitazone in familial combined hyperlipidaemiaJ Intern Med20062591071616336518
  • Adult Treatment Panel IIIExpert Panel on detection, evaluation and treatment of high blood cholesterol in adults. Executive summary of the third report of the National Cholesterol Education Program (NCEP) expert panel on detection, evaluation and treatment of high blood cholesterol in adultsJAMA200128524869711368702
  • Aguilar SalinasCAZamoraMGomez-DiazRAFamilial combined hyperlipidemia: controversial aspects of its diagnosis and pathogenesisSemin Vasc Med20044203915478042
  • AllayeeHKrassKLPajukantaPLocus for elevated apolipoprotein B levels on Chromosome 1p31 in families with familial combined hyperlipidemiaCirc Res2002909263111988495
  • American Diabetes AssociationStandards of Medical Care in Diabetes – 2006Diab Care200629S1S4S42
  • AouizeratBEAllayeeHCantorRMLinkage of a candidate gene locus to familial combined hyperlipidemia: lecithin:cholesterol acyltransferase on 16qArterioscler Thromb Vasc Biol1999192730610559018
  • ArcaMNatoliSMichelettaFIncreased plasma levels of oxysterols, in vivo markers of oxidative stress, in patients with familial combined hyperlipidemia: reduction during atorvastatin and fenofibrate therapyFree Radic Biol Med20074269870517291993
  • AustinMABrunzellJFitchWLInheritance of LDL subclass patterns in familial combined hyperlipidemiaArteriosclerosis199010520302369363
  • AustinMAMcKnightBEdwardsKLCardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective studyCirculation200010127778210859281
  • AyyobiAFBrunzellJDLipoprotein distribution in the metabolic syndrome, type 2 diabetes mellitus, and familial combined hyperlipidemiaAm J Cardiol20039227J33J
  • AyyobiAFMcGladderySHMcNeelyMJSmall, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemiaArterioscler Thromb Vasc Biol20032312899412750118
  • BadziochMDIgoRPJrGagnonFLow-density lipoprotein particle size loci in familial combined hyperlipidemia: evidence for multiple loci from a genome scanArterioscler Thromb Vasc Biol20042419425015331429
  • BaysHSteinEAPharmacotherapy for dyslipidaemia – current therapies and future agentsExpert Opin Pharmacother2003419013814596646
  • Blanco-ColioLMMartin-VenturaJLSolJMDecreased circulating Fas ligand in patients with familial combined hyperlipidemia or carotid atherosclerosis: normalization by atorvastatinJ Am Coll Cardiol20044311889415063428
  • BredieSJWesterveldHTKnipscheerHCEffects of gemfibrozil or simvastatin on apolipoprotein-B-containing lipoproteins, apolipoprotein-CIII and lipoprotein(a) in familial combined hyperlipidaemiaNeth J Med19964959678824106
  • CalabresiLVillaBCanavesiMAn omega-3 polyunsaturated fatty acid concentrate increases plasma high-density lipoprotein 2 cholesterol and paraoxonase levels in patients with familial combined hyperlipidemiaMetabolism200453153814767865
  • CampagnaFMontaliABaroniMGCommon variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemiaMetabolism200251129830512370850
  • CiceroAFGMartiniCNativioVAssociation between lipidic phenotype variability and CHD/CVD in a large rural population: the Brisighella StudyAtherosclerosis2000151105
  • CiceroAFGPanourgiaMPLinarelloSSerum lipoprotein(a) levels in a large sample of subjects affected by familial combined hyperlipoproteinemia (FCH) and in general populationJ Cardiovasc Risk2003101495112668913
  • CiceroFGGalettiCMartiniCVariability of the lipidic plasmatic phenotypes prevalence in a population and diagnosis of FCH: The Brisighella Heart StudyAtherosclerosis1999144S1139
  • CiveiraFFor the International Panel on Management of Familial HypercholesterolemiaGuidelines for the diagnosis and management of heterozygous familial hypercholesterolemiaAtherosclerosis2004173556815177124
  • CoonHMyersRHBoreckiIBReplication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus: the NHLBI family heart studyArterioscler Thromb Vasc Biol20002022758011031215
  • CorellaDOrdovasJMSingle nucleotide polymorphisms that influence lipid metabolism: Interaction with dietary factorsAnnu Rev Nutr253419016011471
  • de BruinTWGeorgievaAMBrouwersMCRadiological evidence of nonalcoholic fatty liver disease in familial combined hyperlipidemiaAm J Med2004116847915178501
  • De BruinTWACastro CabezasMDallinga-YhieGBetteridgeDJFamilial Combined Hyperlipidaemia – do we understand the pathophysiology and genetics?Lipids: current perspectives1996LondonMartin Dunitzp1019
  • de GraafJvan der VleutenGStalenhoefAFDiagnostic criteria in relation to the pathogenesis of familial combined hyperlipidemiaSemin Vasc Med200442294015630632
  • de GraafJvan der VleutenGMter AvestEHigh plasma level of remnant-like particles cholesterol in familial combined hyperlipidemiaJ Clin Endocrinol Metab20079212697517227806
  • del Rincon JareroJPAguilar-SalinasCAGuillen-PinedaLELack of agreement between the plasma lipid-based criteria and apoprotein B for the diagnosis of familial combined hyperlipidemia in members of familial combined hyperlipidemia kindredsMetabolism2002512182411833052
  • DelawiDMeijssenSCastro CabezasMIntra-individual variations of fasting plasma lipids, apolipoproteins and postprandial lipemia in familial combined hyperlipidemia compared to controlsClin Chim Acta20033281394512559610
  • DemackerPNVeerkampMJBredieSJComparison of the measurement of lipids and lipoproteins versus assay of apolipoprotein B for estimation of coronary heart disease risk: a study in familial combined hyperlipidemiaAtherosclerosis20001534839011164438
  • DurringtonPDyslipidaemiaLancet20033627173112957096
  • Eichenbaum-VolineSOlivierMJonesELLinkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemiaArterioscler Thromb Vasc Biol2004241677414551155
  • ElamMBHunninghakeDBDavisKBEffect of niacin on lipid and lipoprotein levels and glycemic control in patients with diabetes and peripheral arterial disease: the ADMIT trial – a randomized trialJAMA200028412637010979113
  • ElbeinSCHoffmanMDTengKA genome-wide search for type 2 diabetes susceptibility genes in Utah CaucasiansDiabetes19994811758210331426
  • EvansKBurdgeGCWoottonSATissue-specific stable isotope measurements of postprandial lipid metabolism in familial combined hyperlipidaemiaAtherosclerosis2007 Epub ahead of print
  • ForsterLFStewartGBedfordDInfluence of atorvastatin and simvastatin on apolipoprotein B metabolism in moderate combined hyperlipidemic subjects with the low VLDL and LDL fractional clearance ratesAtherosclerosis20021641294512119202
  • GaddiACiceroAFGNascettiSOn behalf of the Italian Study Group for the study of Dysmetabolic Diseases and AtherosclerosisCerebrovascular disease in Italy and Europe: it is necessary to prevent a “pandemia”Gerontology200349697912574667
  • GaddiAGalettiCPauciulloPOn behalf of the Committee of experts of the Atherosclerosis and Dysmetabolic Disorders Study GroupFamilial combined hyperlipoproteinemia: expert panel position on diagnostic criteria for clinical practiceNutr Metab Cardiovasc Dis199993041110765523
  • GaddiAVCiceroAFGMetabolic syndromes: diagnosis, prognosis, therapyBologna2006ItalyEsculapio Ed14552
  • GeorgievaAMvan GreevenbroekMMKraussRMSubclasses of low-density lipoprotein and very low-density lipoprotein in familial combined hyperlipidemia: relationship to multiple lipoprotein phenotypeArterioscler Thromb Vasc Biol200424744914751815
  • GoldsteinJLSchrottHGHazzardWRHyperlipidemia in coronary artery disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemiaJ Clin Invest1973521544684718953
  • GreenRMNASH – hepatic metabolism and not simply the metabolic syndromeHepatology200338141712829980
  • GrundySMVegaGLYuanZEffectiveness and tolerability of simvastatin plus fenofibrate for combined hyperlipidemia (the SAFARI trial)Am J Cardiol200595462815695129
  • GrundySMVegaGLYuanZEffectiveness and tolerability of simvastatin plus fenofibrate for combined hyperlipidemia (the SAFARI trial)Am J Cardiol200595462815695129
  • HashemAChiMTFriedmanCPMedical errors as a result of specializationJ Biomed Inform20033661914552847
  • HokansonJEAustinMAZambonAPlasma triglyceride and LDL heterogeneity in familial combined HyperlipidemiaArterioscler Thromb199313427348443147
  • HopkinsPNHeissGEllisonRCCoronary Artery Disease Risk in Familial Combined Hyperlipidemia and Familial Hypertriglyceridemia. A Case-Control Comparison From the National Heart, Lung, and Blood Institute Family Heart StudyCirculation20031085192312847072
  • [IAS] International Atherosclerosis SocietyHarmonized Clinical Guidelines on Prevention of Atherosclerotic Vascular DiseaseIAS2003
  • InsuaAMassariFRodriguez MoncalvoJJFenofibrate of gemfibrozil for treatment of types IIa and IIb primary hyperlipoproteinemia: a randomized, double-blind, crossover studyEndocr Pract200289610111942772
  • IwataFOkadaTKuromoriYScreening for familial combined hyperlipidemia in children using lipid phenotypesJ Atheroscler Thromb20031029930314718747
  • JeuLChengJWPharmacology and therapeutics of ezetimibe (SCH 58235:a cholesterol-absorption inhibitorClin Ther20032523528714604738
  • KaneJPHavelRJScriverCRBeaudetALSlyWValleDDisorders of biogenesis and secretion of lipoproteins containing the B apolipoproteinsThe metabolic basis of inherited disease1989New YorkMcGraw-Hill Inc.112964
  • KarasekDVaverkovaHHalenkaMBrachial endothelial function in subjects with familial combined hyperlipidemia and its relationships to carotid artery intima-media thicknessInt Angiol2006254182617164751
  • KeulenETKruijshoopMSchaperNCIncreased intima-media thickness in familial combined hyperlipidemia associated with apolipoprotein BArterioscler Thromb Vasc Biol200222283811834529
  • KissebahAHAlfarsiSEvansDJLDL metabolism in familial combined hyperlipidemia. Mechanism of the multiple lipoprotein phenotypic expressionArteriosclerosis19844614246508636
  • KohKKQuonMJHanSHAdditive beneficial effects of fenofibrate combined with atorvastatin in the treatment of combined hyperlipidemiaJ Am Coll Cardiol20054516495315893182
  • KoprovicovaJKollarJPetrasovaDNutrition, body weight and deterioration of familial combined hyperlipidemiaColl Antropol2006307778217243549
  • KuromoriYOkadaTIwataFFamilial combined hyperlipidemia (FCH) in children: the significance of early development of hyperapoB lipoproteinemia, obesity and agingJ Atheroscler Thromb200293142012560593
  • KwiterovichPOHyperapoB: a pleiotropic phenotype characterized by dense low density lipoproteins and associated coronary artery diseaseClin Chem199834B71B73042202
  • LenziSBucciACrepaldiGThe CNR program of preventive medicine – SP4 Objective 44. Non-invasive techniques for the evaluation of atherosclerotic plaque progression or regressionMonogr Atheroscler19861483903526133
  • LiuMLYlitaloKNuotioIAssociation between carotid intima-media thickness and low-density lipoprotein size and susceptibility of low-density lipoprotein to oxidation in asymptomatic members of familial combined hyperlipidemia familiesStroke20023312556011988600
  • LiuMLYlitaloKVakkilainenJSusceptibility of LDL to oxidation in vitro and antioxidant capacity in familial combined hyperlipidemia: comparison of patients with different lipid phenotypesAnn Med200234485412014434
  • MancusoGLa ReginaGBagnoliM“Normolipemic” tendinous and tuberous xanthomatosisDermatology199619327328864614
  • MeijssenSDerksenRJBilecenSIn vivo modulation of plasma free fatty acids in patients with Familial Combined Hyperlipidemia using lipid-lowering medicationJ Clin Endocrinol Metab2002a8715768011932285
  • MeijssenSvan DijkHVerseydenCDelayed and exaggerated postprandial complement component 3 response in familial combined hyperlipidemiaArterioscler Thromb Vasc Biol2002b228111612006395
  • NHANES GroupPlan and Operation of the Third National Health and Nutrition Examination Survey, 1988–94. Series 1: programs and collection proceduresVital Health Stat1994321407
  • O’LearyDHPolakJFIntima-media thickness: a tool for atherosclerosis imaging and event predictionAm J Cardiol20029018L21L
  • PajukantaPLiljaHESingheimerJSFamilial Combined hyperlipidemia is associated with upstream transcription factor 1 (USF 1)Nat Gen2004363716
  • PajukantaPNuotioITerwilligerJDLinkage of familial combined hyperlipidaemia to chromosome 1q21q23Nat Genet199818369739537421
  • PeiWBaronHMuller-MyhsokBSupport for the linkage of familial combined hyperlipidemia to chromosome 1q21–q23 in Chinese and German familiesClin Genet200057293410733233
  • PihlajamakiJKarjalainenLKarhapaaPG-250A substitution in promoter of hepatic lipase gene is associated with dyslipidemia and insulin resistance in healthy control subjects and in members of families with familial combined hyperlipidemiaArterioscler Thromb Vasc Biol20002017899510894818
  • PitkanenOPNuutilaPRaitakariOTCoronary flow reserve in young men with familial combined hyperlipidemiaCirculation19999916788410190876
  • RizzoMBerneisKLow-density lipoprotein size and cardiovascular risk assessmentQJM20069911416371404
  • SirtoriCRCalabresiLPisciottaLEffect of statins on LDL particle size in patients with familial combined hyperlipidemia: a comparison between atorvastatin and pravastatinNutr Metab Cardiovasc Dis200515475515871851
  • SkoumasIMasouraCPitsavosCEvidence that non-lipid cardiovascular risk factors are associated with high prevalence of coronary artery disease in patients with heterozygous familial hypercholesterolemia or familial combined hyperlipidemiaInt J Cardiol2006 Epub ahead of print
  • SnidermanADCastro CabezasMRibaltaJA proposal to redefine familial combined hyperlipidaemia – Third workshop on FCH held in Barcelona from 3 to 5 May 2001, during the Scientific Sessions of the European Society for Clinical InvestigationEur J Clin Invest20023271311895451
  • SnidermanADRibaltaJCastro CabezasMHow should FCH be defined and how should we think about its metabolic bases?Nutr Metab Cardiovasc Dis2001112597311831111
  • SoroAJauhiainenMEhnholmCDeterminants of low HDL levels in familial combined hyperlipidemiaJ Lipid Res20034415364412777471
  • StalenhoefAFInteraction between genes and environment in inherited lipid disorders determines clinical presentationCardiovasc Drugs Ther200216271212659084
  • SvegerTNordborgKApolipoprotein B as a marker of familial hyperlipoproteinemiaJ Atheroscler Thromb2004112869215557711
  • TatoFKellerCWolframGEffects of fish oil concentrate on lipoproteins and apolipoproteins in familial combined hyperlipidemiaClin Investig19937131418
  • ter AvestEAbbinkEJHolewijnSEffects of rosuvastatin on endothelial function in patients with familial combined hyperlipidaemia (FCH)Curr Med Res Opin20052114697616197666
  • ter AvestESnidermanADBredieSJEffect of aging and obesity on the expression of dyslipidaemia in children from families with familial combined hyperlipidaemiaClin Sci2007a112131917054424
  • ter AvestEHolewijnSvan TitsLJEndothelial function in familial combined hyperlipidaemiaEur J Clin Invest2007b37381917461984
  • ter AvestEHolewijnSBredieSJPulse wave velocity in familial combined hyperlipidemiaAm J Hypertens2007c20263917324737
  • ThomasELPotterETosiIPioglitazone added to conventional lipid-lowering treatment in familial combined hyperlipidaemia improves parameters of metabolic control: Relation to liver, muscle and regional body fat contentAtherosclerosis2007 Epub ahead of print
  • VakkilainenJPajukantaPCantorRMGenetic influences contributing to LDL particle size in familial combined hyperlipidaemiaEur J Hum Genet2002105475212173032
  • van der KallenCJVoors-PetteCde BruinTWAbdominal obesity and expression of familial combined hyperlipidemiaObes Res20041220546115687407
  • van der VleutenGMvan TitsLJden HeijerMDecreased adiponectin levels in familial combined hyperlipidemia patients contribute to the atherogenic lipid profileJ Lipid Res2005a46239840416106049
  • van der VleutenGMVeerkampMJvan TitsLJElevated leptin levels in subjects with familial combined hyperlipidemia are associated with the increased risk for CVDAtherosclerosis2005b1833556016285998
  • VeerkampMJde GraafJBredieSJHDiagnosis of familial combined hyperlipidemia based on lipid phenotype expression in 32 families. Results of a 5-Year Follow-Up StudyArterioscler Thromb Vasc Biol2002222748211834528
  • VeerkampMJde GraafJHendriksJCMNormogram to diagnose Familial Combined Hyperlipidemia on the basis of results of a 5-year follow-up studyCirculation2004109298792
  • VeerkampMJde GraafJStalenhoefAFRole of insulin resistance in familial combined hyperlipidemiaArterioscler Thromb Vasc Biol20052510263115731490
  • VenkatesanSCullenPPacyPStable isotopes show a direct relation between VLDL Apo B overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemiaArterioscler Thromb1983131110188318511
  • VerseydenCMeijssenSCabezasMCEffects of atorvastatin on fasting plasma and marginated apolipoproteins B48 and B100 in large, triglyceride-rich lipoproteins in familial combined hyperlipidemiaJ Clin Endocrinol Metab2004895021915472200
  • VerseydenCMeijssenSCastro CabezasMPostprandial changes of apoB-100 and apoB-48 in TG rich lipoproteins in familial combined hyperlipidemiaJ Lipid Res2002432748011861669
  • WangTDChenWJLinJWEfficacy of fenofibrate and simvastatin on endothelial function and inflammatory markers in patients with combined hyperlipidemia: relations with baseline lipid profilesAtherosclerosis20031703152314612213
  • WilliamsKJPetrieABrociaRWLipoprotein lipase modulates net secretory output of apolipoprotein B in vitro: a possible pathophysiologic explanation for familial combined HyperlipidemiaJ Clin Invest199188130061918380
  • WiltshireSHattersleyATHitmanGAA genomewide scan for loci predisposing to type 2 diabetes in a UK population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1qAm J Hum Genet2001695536911484155
  • YlitaloKSyvanneMSalonenRCarotid artery intima-media thickness in Finnish families with familial combined hyperlipidemiaAtherosclerosis2002162171811947911