0000000001226344

AUTHOR

Angelo B. Cefalã¹

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Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

2017

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 nationw…

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 markerMutationbusiness
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