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Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile.
Scicali, R; Di Pino, A; Platania, R; Purrazzo, G; Ferrara, V; Giannone, A; Urbano, F; Filippello, A; Rapisarda, V; Farruggia, E; Piro, S; Rabuazzo, A M; Purrello, F.
Afiliação
  • Scicali R; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Di Pino A; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Platania R; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Purrazzo G; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Ferrara V; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Giannone A; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Urbano F; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Filippello A; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Rapisarda V; Department of Clinical and Experimental Medicine, Section of Occupational Medicine, University of Catania, Italy.
  • Farruggia E; Occupational Medicine Division, Garibaldi Hospital of Catania, Catania, Italy.
  • Piro S; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Rabuazzo AM; Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Purrello F; Department of Clinical and Experimental Medicine, University of Catania, Italy. Electronic address: fpurrell@unict.it.
Nutr Metab Cardiovasc Dis ; 28(1): 35-43, 2018 01.
Article em En | MEDLINE | ID: mdl-28958694
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is underdiagnosed and public cholesterol screening may be useful to find new subjects. In this study, we aim to investigate the prevalence of FH patients in a hospital screening program and evaluate their atherosclerotic burden using intima-media thickness (IMT). METHODS AND RESULTS: We screened 1575 lipid profiles and included for genetic analysis adults with a low-density lipoprotein (LDL) cholesterol >190 mg/dL and triglycerides <200 mg/dL and first-degree child relatives with LDL cholesterol >160 mg/dL and triglycerides <200 mg/dL. The diagnosis of FH was presumed by Dutch Lipid Clinic Network (DLCN) criteria and confirmed by the presence of the genetic variant. Mean common carotid intima-media thickness (IMT) was assessed using consensus criteria. After confirming LDL cholesterol value and excluding secondary hypercholesterolemia, 56 subjects with a DLCN ≥4 performed genetic analysis. Of these, 26 had an FH genetic variant. The proportion of patients with a mutation having a DLCN score of 6-8 was 75%; in individuals with a DLCN score >8 it was 100%. Mean IMT was higher in FH patients compared to non FH (0.73 [0.61-0.83] vs 0.71 [0.60-0.75] mm, p < 0.01). Moreover, we detected two mutations not previously described. Finally, simple regression analysis showed a correlation of IMT with LDL cholesterol >190 mg/dL and corneal arcus (p < 0.01 and p < 0.001, respectively). CONCLUSIONS: A hospital screening was useful to detect FH subjects with increased atherosclerosis. Also, next-generation sequencing was able to detect new FH mutations.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Doenças das Artérias Carótidas / Programas de Rastreamento / Artéria Carótida Primitiva / Espessura Intima-Media Carotídea / Hospitais / Hiperlipoproteinemia Tipo II / Lipídeos / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Evaluation_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Doenças das Artérias Carótidas / Programas de Rastreamento / Artéria Carótida Primitiva / Espessura Intima-Media Carotídea / Hospitais / Hiperlipoproteinemia Tipo II / Lipídeos / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Evaluation_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2018 Tipo de documento: Article