6533b86ffe1ef96bd12cdcc9
RESEARCH PRODUCT
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)
Maurizio AvernaAngelo B. Cefalã¹Manuela CasulaDavide NotoMarcello ArcaStefano BertoliniSebastiano CalandraAlberico L. CatapanoPatrizia TarugiMarcello ArcaMaurizio AvernaStefano BertoliniSebastiano CalandraAlberico Luigi CatapanoPatrizia TarugiFabio PellegattaFrancesco AngelicoMarcello ArcaMaurizio AvernaAndrea BartuliGiacomo BiasucciGianni BioloLuca BonanniKatia BonomoClaudio BorghiAntonio Carlo BossiAdriana BranchiFrancesca CarubbiFrancesco CipolloneNadia CitroniMassimo FedericiClaudio FerriAnna Maria FiorenzaAndrea GiaccariFrancesco GiorginoOrnella GuardamagnaArcangelo IannuzziLorenzo IughettiGraziana LupattelliGiuseppe MandraffinoRossella MarcucciGiuliana MombelliSandro MuntoniValerio PecchioliCristina PederivaAntonio PipoloLivia PisciottaArturo PujiaFrancesco PurrelloElena RepettiPaolo RubbaSabbã Carlo Tiziana SampietroRiccardo SarzaniMilena Paola TagliabueChiara TrentiGiovanni Battista VignaJosã Pablo WerbaSabina ZambonMaria Grazia ZentiAnna MontaliDavide NotoStefano BertoliniSebastiano CalandraGiuliana FortunatoLiliana GrigoreMaria Del BenMarianna MaranghiAngelo B. Cefalã¹Carlo M. BarbagalloPaola Sabrina BuonuomoMaria Elena CapraPierandrea VinciSergio D'addatoStella GalbiatiFabio NascimbeniMarco BucciWalter SpagnoliIris CardoliniNazzareno CervelliColombo EmanuelaA. Sun VinsinLuigi LaviolaFrancesca BelloGiuseppe ChiarielloBarbara PredieriDonatella SiepiAntonino SaittaBetti GiustiChiara PavanelloMilena LussuLucia PratiGiuseppe BanderaliGiulia BalleariTiziana MontalciniRoberto ScicaliLuigi GentileMarco GentilePatrizia SuppressaFrancesco SbranaGuido CocciAndrea BensoEmanuele Alberto NegriOmar GhirardelloVigo LorenzoAlberto ZambonBonora EnzoIlenia MinicocciRossella SpinaCamilla OrlandoPatrizia TarugiMaria Donata Di TarantoAlberico Luigi CatapanoManuela CasulaLorenzo ChiodoKatia GarlaschelliEnzo ManzatoElena Tragnisubject
0301 basic medicineCandidate geneGenetic testingSettore MED/09 - Medicina InternaDatabases FactualDNA Mutational AnalysisDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematology0302 clinical medicineDyslipidemias; Genetic testing; National network; Internal Medicine; Cardiology and Cardiovascular MedicineRisk FactorsProspective StudiesProgram DevelopmentProspective cohort studymedicine.diagnostic_testGeneral MedicinePrognosisCholesterolPhenotypeItalyCardiology and Cardiovascular MedicineGenetic Markersmedicine.medical_specialtyNational networkDyslipidemias; Genetic testing; National networkMEDLINEHyperlipoproteinemia Type II03 medical and health sciencesDatabasesInternal medicinemedicineInternal MedicineHumansGenetic Predisposition to DiseaseFactualGenetic testingRetrospective StudiesDyslipidemiasbusiness.industrySettore MED/13 - ENDOCRINOLOGIARetrospective cohort studymedicine.diseaseAtherosclerosisDyslipidemias; Genetic testing; National network; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Prognosis; Program Development; Prospective Studies; Retrospective Studies; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine030104 developmental biologyEndocrinologyDyslipidemiaGenetic markerMutationbusinessdescription
Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >= 6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2017-01-01 |