title: Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART).
abstract: OBJECTIVE
  Familial hypercholesterolemia (FH) patients are at high risk for premature coronary heart disease (CHD). Despite the use of statins, most patients do not achieve an optimal LDL-cholesterol goal. The aims of this study are to describe baseline characteristics and to evaluate Lipid Lowering Therapy (LLT) in FH patients recruited in SAFEHEART.
  
  
  RESULTS
  A cross-sectional analysis of cases recruited in the Spanish FH cohort at inclusion was performed. Demographic, lifestyle, medical and therapeutic data were collected by specific surveys. Blood samples for lipid profile and DNA were obtained. Genetic test for FH was performed through DNA-microarray. Data from 1852 subjects (47.5% males) over 19 years old were analyzed: 1262 (68.1%, mean age 45.6 years) had genetic diagnosis of FH and 590 (31.9%, mean age 41.3 years) were non-FH. Cardiovascular disease was present in 14% of FH and in 3.2% of non-FH subjects (P < 0.001), and was significantly higher in patients carrying a null mutation compared with those carrying a defective mutation (14.87% vs. 10.6%, respectively, P < 0.05). Prevalence of current smokers was 28.4% in FH subjects. Most FH cases were receiving LLT (84%). Although 51.5% were receiving treatment expected to reduce LDL-c levels at least 50%, only 13.6% were on maximum statin dose combined with ezetimibe. Mean LDL-c level in treated FH cases was 186.5 mg/dl (SD: 65.6) and only 3.4% of patients reached and LDL-c under 100 mg/dl. The best predictor for LDL-c goal attainment was the use of combined therapy with statin and ezetimibe.
  
  
  CONCLUSIONS
  Although most of this high risk population is receiving LLT, prevalence of cardiovascular disease and LDL-c levels are still high and far from the optimum LDL-c therapeutic goal. However, LDL-c levels could be reduced by using more intensive LLT such as combined therapy with maximum statin dose and ezetimibe.
authors.affiliation: Department of Epidemiology, Madrid Health Authority and Fundación Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Nelva
authors.initials: N
authors.lastname: Mata
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.forename: Lina
authors.initials: L
authors.lastname: Badimón
authors.forename: Teresa
authors.initials: T
authors.lastname: Padró
authors.forename: Francisco
authors.initials: F
authors.lastname: Fuentes
authors.forename: Ovidio
authors.initials: O
authors.lastname: Muñiz
authors.forename: Francisco
authors.initials: F
authors.lastname: Perez-Jiménez
authors.forename: José
authors.initials: J
authors.lastname: López-Miranda
authors.forename: Jose L
authors.initials: JL
authors.lastname: Díaz
authors.forename: Jose I
authors.initials: JI
authors.lastname: Vidal
authors.forename: A
authors.initials: A
authors.lastname: Barba
authors.forename: Mar
authors.initials: M
authors.lastname: Piedecausa
authors.forename: Juan F
authors.initials: JF
authors.lastname: Sanchez
authors.forename: Luis
authors.initials: L
authors.lastname: Irigoyen
authors.forename: Eliseo
authors.initials: E
authors.lastname: Guallar
authors.forename: José M
authors.initials: JM
authors.lastname: Ordovas
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
mesh_terms: D000328:Adult; D000368:Aged; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D000069059:Atorvastatin; D001384:Azetidines / Q000627:therapeutic use*; D002318:Cardiovascular Diseases / Q000209:etiology; D008078:Cholesterol, LDL / Q000097:blood*; D004359:Drug Therapy, Combination; D000069438:Ezetimibe; D005260:Female; D006305:Health Status Indicators; D006538:Heptanoic Acids / Q000627:therapeutic use*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000188:drug therapy*; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D011758:Pyrroles / Q000627:therapeutic use*; D019821:Simvastatin / Q000627:therapeutic use*; D013030:Spain; D055815:Young Adult
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D008078:Cholesterol, LDL; D006538:Heptanoic Acids; D011758:Pyrroles; D000069059:Atorvastatin; D019821:Simvastatin; D000069438:Ezetimibe