0000000000182323

AUTHOR

Federica Brucato

showing 2 related works from this author

Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients

2022

Background and aims: Familial hypercholesterolemia (FH) is the most relevant genetic cause of early cardiovascular disease (CVD). FH is suspected when low density lipoprotein cholesterol (LDL-C) levels exceed the 95th percentile of the population distribution. Different diagnostic scoring systems have been developed, as the Dutch Lipid Clinic Network (DLCN) score, used worldwide. The aim of the study is to describe the characteristics of FH patients of a large cohort of more than eight hundred genotyped subjects enrolled in an Italian Lipid Clinic, and evaluate the DLCN score performance applied retrospectively to the case study. Methods: 836 hypercholesterolemic patients with LDL-C > 4.…

Cohort StudiesHyperlipoproteinemia Type IIHeterozygoteSettore MED/09 - Medicina InternaSettore BIO/12 - Biochimica Clinica E Biologia Molecolare ClinicaGeneticPredictive scoresFamilial hypercholesterolemiaHumansCholesterol LDLLipidCardiology and Cardiovascular MedicineRetrospective StudiesAtherosclerosis
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GENETIC MARKERS OF DEVELOPMENT AND PROGRESSION OF THE ATHEROSCLEROSIS. POSSIBLE ROLE OF VARIANTS THAT CHANGE THE INTERACTIONS WITH THE PROTEOGLYCANS …

2021

Polygenic diseaseFamilial HypercholesterolemiaMonogenic diseaseCoronary artery diseaseFamilial Hypobetalipoproteinemia
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