title: [Two forms of familial hypercholesterolemia: differences in cardiovascular risk factors, cardiac and extracardiac atherosclerosis].
abstract: OBJECTIVE
  The monogenetic hypercholesterolemias (HC) are associated with a very high risk of premature coronary heart disease (CHD). We sought to assess the influence of the genetic defect and the cardiovascular risk factors on the manifestation of atherosclerotic complications in two forms of genetic HC.
  
  
  METHODS
  Data of patients with genetically defined HC (54 LDL-receptor defective familial hypercholesterolemia (FH) and 54 familial defective apolipoprotein B (FDB)) were analysed retrospectively for cardiac and extracardiac atherosclerosis.
  
  
  RESULTS
  Total and LDL-cholesterol were significantly higher in FH men than in FDB men, but not so in women. 41.8% of FH patients had CHD (mean age 41 years), 5.6% of FDB (mean age 52 years). Stenoses (>50% narrowing) of the internal carotid artery were verified in 15% of FH and 4% of FDB patients. Peripheral arterial disease was found in 3 FH and 2 FDB patients. Hypertension and active smoking were allotted almost equally, body weight was normal in most of the patients (BMI ≤ 25 kg/m(2)). Conlusion: Patients with genetic HC suffer from early manifestation of cardiac disease. Patients with FH seem to be affected more often than patients with FDB. Early diagnosis and early and lifelong treatment are essential and, according to the literature, lead to a delay of disease manifestation.
authors.affiliation: Medizinische Klinik und Poliklinik IV, Klinikum der Universität München.
authors.forename: A
authors.initials: A
authors.lastname: Vogt
authors.affiliation: Medizinische Klinik und Poliklinik IV, Klinikum der Universität München.
authors.forename: C
authors.initials: C
authors.lastname: Keller
authors.affiliation: Fakultät für Zahnmedizin Ludwig-Maximilians-Universität München.
authors.forename: C
authors.initials: C
authors.lastname: Heigl
authors.affiliation: Universitäts GefäßCentrum, Medizinische Klinik und Poliklinik III, Universitätsklinikum Carl Gustav Carus der Technischen Universität Dresden.
authors.forename: N
authors.initials: N
authors.lastname: Weiss
authors.affiliation: Medizinische Klinik und Poliklinik IV, Klinikum der Universität München.
authors.forename: N
authors.initials: N
authors.lastname: Zöllner
mesh_terms: D000328:Adult; D000368:Aged; D053299:Apolipoprotein B-100 / Q000235:genetics; D050197:Atherosclerosis / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood; D003324:Coronary Artery Disease / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D003430:Cross-Sectional Studies; D005260:Female; D006580:Genetic Carrier Screening; D005858:Germany; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D054643:INDEL Mutation; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics; D012307:Risk Factors; D012737:Sex Factors; D020521:Stroke / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics
chemical_list: D053299:Apolipoprotein B-100; D008078:Cholesterol, LDL; D011973:Receptors, LDL