title: Assessment of Subclinical Atherosclerosis Using Computed Tomography Calcium Scores in Patients with Familial and Nonfamilial Hypercholesterolemia.
abstract: OBJECTIVE
  The aim of this study was to compare coronary calcium scores and aortic calcium scores between patients with severe hypercholesterolemia having a DNA-based diagnosis of FH (FH group) versus patients with severe hypercholesterolemia without the FH gene mutation (NFH group).
  
  
  METHODS
  A total of 89 FH and 50 NFH patients underwent CT with coronary and thoracic aorta calcium scoring. Their CCS and TCS in ascending aorta (TCSasc) and descending aorta (TCSdesc) were determined and compared between the two patient groups.
  
  
  RESULTS
  TCSasc was significantly higher in the FH group when compared to the NFH group (30.6± 59 vs 4.7±13.4, p＜0.001. After adjusting for age, sex, smoking, blood pressure, history of diabetes mellitus and LDL cholesterol levels, FH gene mutation was an independent risk factor of having non-zero TCSasc 3.6 (95% CI, 1.4-9.5, p＜0.01), high TCSasc 9.6 (95% CI, 2.4-38.2, p＜0.01) and high CCS of 4.1 (95% CI, 1.2-13.2. p＜0.05).
  
  
  CONCLUSIONS
  We found that when computed tomography calcium scores were used as an assessment, patients with familial hypercholesterolemia displayed an increased burden of ascending aorta atherosclerosis when compared to patients with nonfamilial severe hypercholesterolemia. This phenomenon appears to be more dependent on the presence of FH genotype than hypercholesterolemia itself.
authors.affiliation: 1st Department of Cardiology, Medical University of Gdansk.
authors.forename: Rafal
authors.initials: R
authors.lastname: Galaska
authors.forename: Dorota
authors.initials: D
authors.lastname: Kulawiak-Galaska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Wegrzyn
authors.forename: Bartosz
authors.initials: B
authors.lastname: Wasag
authors.forename: Magdalena
authors.initials: M
authors.lastname: Chmara
authors.forename: Justyna
authors.initials: J
authors.lastname: Borowiec
authors.forename: Michał
authors.initials: M
authors.lastname: Studniarek
authors.forename: Marcin
authors.initials: M
authors.lastname: Fijalkowski
authors.forename: Andrzej
authors.initials: A
authors.lastname: Rynkiewicz
authors.forename: Marcin
authors.initials: M
authors.lastname: Gruchala
mesh_terms: D000328:Adult; D000368:Aged; D001011:Aorta / Q000000981:diagnostic imaging* / Q000378:metabolism / Q000473:pathology; D050197:Atherosclerosis / Q000000981:diagnostic imaging*; D001794:Blood Pressure; D002118:Calcium / Q000032:analysis* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000000981:diagnostic imaging* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D061330:Multidetector Computed Tomography; D009154:Mutation; D000071449:Proprotein Convertase 9 / Q000235:genetics; D012307:Risk Factors
chemical_list: C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D002118:Calcium