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.

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.;Piro S.;Rabuazzo A. M.;Purrello F.
2018

Abstract

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.
Cardiovascular risk assessment
Familial hypercholesterolemia
Intima-media thickness
Low-density lipoprotein cholesterol
Screening program
Aged
Biomarkers
Carotid Artery Diseases
Carotid Artery, Common
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Hyperlipoproteinemia Type II
Italy
Lipids
Male
Mass Screening
Middle Aged
Phenotype
Plaque, Atherosclerotic
Predictive Value of Tests
Prevalence
Program Evaluation
Risk Factors
Carotid Intima-Media Thickness
Hospitals
Mutation
File in questo prodotto:
File Dimensione Formato  
j.numecd.2017.07.003.pdf

solo utenti autorizzati

Tipologia: Documento in Pre-print
Dimensione 1.24 MB
Formato Adobe PDF
1.24 MB Adobe PDF   Visualizza/Apri
Detecting familial hypercholesterolemia by serum lipid profile.pdf

non disponibili

Tipologia: Versione Editoriale (PDF)
Dimensione 569.95 kB
Formato Adobe PDF
569.95 kB Adobe PDF   Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/517709
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 16
  • ???jsp.display-item.citation.isi??? 13
social impact