title: Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal.
abstract: BACKGROUND
  The risk of premature cardiovascular disease in patients with familial hypercholesterolemia (FH) can be profoundly reduced by cholesterol-lowering therapy, and current guidelines for FH advocate ambitious low-density lipoprotein cholesterol (LDL-C) goals. In the present study, we determined whether these goals are reflected in current clinical practice once FH has been diagnosed.
  
  
  RESULTS
  In 2008, we sent questionnaires to all subjects (aged 18-65 years) who were molecularly diagnosed with FH in the year 2006 through the screening program in The Netherlands. Of these 1062 subjects, 781 completed the questionnaire (46% males; mean age: 42+/-12 years; mean LDL-C at molecular diagnosis (baseline): 4.1+/-1.3 mmol/L). The number of persons that used cholesterol-lowering therapy increased from 397 (51%) at baseline to 636 (81%) after diagnosis. Mean treated LDL-C levels decreased significantly to 3.2+/-1.1 mmol/L two years after diagnosis. Only 22% achieved the LDL-C target level of < or = 2.5 mmol/L.
  
  
  CONCLUSIONS
  The proportion of patients using cholesterol-lowering medication was significantly increased after FH diagnosis through genetic cascade screening. The attained LDL-C levels were lower than those reported in previous surveys on medication use in FH, which could reflect the effect of more stringent lipid target levels. However, only a minority of the medication users reached the LDL-C target.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands. r.huijgen@amc.uva.nl
authors.forename: Roeland
authors.initials: R
authors.lastname: Huijgen
authors.forename: Iris
authors.initials: I
authors.lastname: Kindt
authors.forename: Sjoerd B J
authors.initials: SB
authors.lastname: Verhoeven
authors.forename: Eric J G
authors.initials: EJ
authors.lastname: Sijbrands
authors.forename: Maud N
authors.initials: MN
authors.lastname: Vissers
authors.forename: John J P
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Hutten
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D001055:Apolipoproteins B / Q000235:genetics; D008078:Cholesterol, LDL / Q000097:blood*; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009426:Netherlands; D017063:Outcome Assessment, Health Care / Q000379:methods / Q000706:statistics & numerical data; D011973:Receptors, LDL / Q000235:genetics; D011795:Surveys and Questionnaires; D013997:Time Factors; D055815:Young Adult
chemical_list: D000924:Anticholesteremic Agents; D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D011973:Receptors, LDL