title: Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia.
abstract: BACKGROUND
  Intima-media thickness (IMT) is a well-described marker of cardiovascular disease. In this study we aim to determine whether low-density lipoprotein (LDL) levels and disease-related mutation status can predict IMT in patients with severe familial hypercholesterolemia (FH) referred for or on LDL apheresis.
  
  
  METHODS
  Genetic screening, lipid profile testing, and IMT measurements were performed on a series of 33 severe FH patients (19 homozygous) on LDL apheresis treatments (LDL 447 ± 151 mg/dL, age range 6-60 years). Data were then compared with literature IMT-LDL data for normal subjects, mild FH patients, and severe FH patients (18, 41, and 6 studies, respectively).
  
  
  RESULTS
  Age-adjusted IMT was linearly related to LDL levels over a wide range of values (<500 mg/dL), except for the severe FH no-apheresis cohort. Alternatively, our severe FH population (mostly on apheresis) did follow the mild FH/control age-adjusted IMT-LDL relation.
  
  
  CONCLUSIONS
  In severe FH, measuring LDL levels is more predictive of increased IMT than genetic screening.
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
authors.forename: Akl C
authors.initials: AC
authors.lastname: Fahed
authors.affiliation: Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Robert H
authors.initials: RH
authors.lastname: Habib
authors.affiliation: Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
authors.forename: Georges M
authors.initials: GM
authors.lastname: Nemer
authors.affiliation: Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Sami T
authors.initials: ST
authors.lastname: Azar
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Rabih R
authors.initials: RR
authors.lastname: Andary
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Mariam T
authors.initials: MT
authors.lastname: Arabi
authors.affiliation: National LDL Apheresis Center, Dahr El Bashek Governmental University Hospital, Dahr el Bashek, Lebanon.
authors.forename: Elie M
authors.initials: EM
authors.lastname: Moubarak
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
authors.forename: Fadi F
authors.initials: FF
authors.lastname: Bitar
authors.affiliation: Department of Surgery, American University of Beirut, Beirut, Lebanon. Electronic address: fh16@aub.edu.lb.
authors.forename: Fady F
authors.initials: FF
authors.lastname: Haddad
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001057:Apolipoproteins E / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D001781:Blood Component Removal; D002340:Carotid Artery Diseases / Q000097:blood / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D059168:Carotid Intima-Media Thickness; D016022:Case-Control Studies; D002648:Child; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008077:Lipoproteins, LDL / Q000097:blood*; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D011973:Receptors, LDL / Q000235:genetics; D012307:Risk Factors; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D001057:Apolipoproteins E; D015415:Biomarkers; C573412:LDLR protein, human; D008077:Lipoproteins, LDL; D011973:Receptors, LDL