title: [Influence of FH Valencia 1 and 2 mutations of the LDL receptor gene on the response to simvastatin in subjects with molecularly defined heterozygous familial hypercholesterolemia in Spain].
abstract: BACKGROUND
  To analyse whether the molecular diagnosis in FH patients is useful to predict the response to treatment with simvastatin in a south European population.
  
  
  METHODS
  A randomised clinical trial with no control group, with 20 mg/day of simvastatin was conducted in 27 genetically diagnosed FH subjects (11 male) from 8 FH families, randomly selected from 30 FH families with a molecular diagnosis. Clinical features and lipid parameters at baseline and after simvastatin treatment were compared between subjects classified as null mutations (FH Valencia 1 and 2; n = 11) and defective mutations (n = 16).
  
  
  RESULTS
  FH with null mutations (FH Valencia 1 and 2) have a poor response to simvastatin treatment. The mean reduction of plasma LDLc levels in subjects with null mutations were significantly lower (32.6% [9.5] vs 42.8% [12.2]; p = 0.03) than in subjects with defective mutations. Baseline and after treatment plasma HDLc values were also significantly lower in FH group with null mutations. No statistically significant differences were found at baseline, after treatment and in the response to treatment between males and females.
  
  
  CONCLUSIONS
  FH subjects with null alleles (FH Valencia 1 and 2) showed a poor response to simvastatin treatment. The type of LDL receptor gene mutation could predict the response to simvastatin in our south European FH population.
authors.affiliation: Servicio de Endocrinología y Nutrición. Hospital Clínico Universitario. Departamento de Medicina. Universidad de Valencia.
authors.forename: J T
authors.initials: JT
authors.lastname: Real
authors.forename: F J
authors.initials: FJ
authors.lastname: Chaves
authors.forename: M
authors.initials: M
authors.lastname: Civera
authors.forename: A B
authors.initials: AB
authors.lastname: García-García
authors.forename: J F
authors.initials: JF
authors.lastname: Ascaso
authors.forename: M E
authors.initials: ME
authors.lastname: Armengod
authors.forename: R
authors.initials: R
authors.lastname: Carmena
mesh_terms: D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D001053:Apolipoproteins / Q000097:blood; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000188:drug therapy* / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*; D019821:Simvastatin / Q000627:therapeutic use*; D013030:Spain
chemical_list: D000924:Anticholesteremic Agents; D001053:Apolipoproteins; D008074:Lipoproteins; D011973:Receptors, LDL; D019821:Simvastatin