title: Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up.
abstract: BACKGROUND
  Familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data on attainment of treatment targets; large registries that reflect real-life clinical practice can uniquely provide this information.
  
  
  OBJECTIVE
  We sought to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients enrolled in a large national registry.
  
  
  METHODS
  The SAFEHEART study (Spanish Familial Hypercholesterolemia Cohort Study) is a large, ongoing registry of molecularly defined patients with heterozygous FH treated in Spain. The attainment of guideline-recommended plasma LDL-C goals at entry and follow-up was investigated in relation to use of lipid-lowering therapy (LLT).
  
  
  RESULTS
  The study recruited 4,132 individuals (3,745 of whom were ≥18 years of age); 2,752 of those enrolled were molecularly diagnosed FH cases. Mean follow-up was 5.1 ± 3.1 years; 71.8% of FH cases were on maximal LLT, and an LDL-C treatment target <100 mg/dl was reached by only 11.2% of patients. At follow-up, there was a significant increase in the use of ezetimibe, drug combinations with statins, and maximal LLT. The presence of type 2 diabetes mellitus, a defective allele mutation, ezetimibe use, and the absence of previous ASCVD were predictors of the attainment of LDL-C goals.
  
  
  CONCLUSIONS
  Despite the use of intensified LLT, many FH patients continue to experience high plasma LDL-C levels and, consequently, do not achieve recommended treatment targets. Type of LDL-receptor mutation, use of ezetimibe, coexistent diabetes, and ASCVD status can bear significantly on the likelihood of attaining LDL-C treatment goals.
authors.affiliation: Cardiology Department. Hospital Clínico San Carlos, IDISSC, Madrid, Spain; Fundación Hipercolesterolemia Familiar, Madrid, Spain. Electronic address: leopisla@hotmail.com.
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Perez de Isla
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain; Clínica las Condes, Santiago de Chile, Chile.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.affiliation: Lipid Disorders Clinic, Centre for Cardiovascular Medicine, Royal Perth Hospital, Perth, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, Australia.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain; Department of Epidemiology, Madrid Health Authority, Madrid, Spain.
authors.forename: Nelva
authors.initials: N
authors.lastname: Mata
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain; Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain.
authors.forename: Adriana
authors.initials: A
authors.lastname: Saltijeral Cerezo
authors.affiliation: Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain.
authors.forename: Ovidio
authors.initials: O
authors.lastname: Muñiz
authors.affiliation: Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Fuentes
authors.affiliation: Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain.
authors.forename: José Luís
authors.initials: JL
authors.lastname: Diaz-Diaz
authors.affiliation: Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Raimundo
authors.initials: R
authors.lastname: de Andrés
authors.affiliation: Department of Endocrinology, Hospital Clinic, Barcelona, Spain.
authors.forename: Daniel
authors.initials: D
authors.lastname: Zambón
authors.affiliation: Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Rubio-Marin
authors.affiliation: Department of Internal Medicine, Complejo Hospitalario Universitario, Albacete, Spain.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Barba-Romero
authors.affiliation: Department of Internal Medicine, Hospital de Mérida, Extremadura, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Saenz
authors.affiliation: Department of Internal Medicine, Hospital San Pedro de Alcántara, Cáceres, Spain.
authors.forename: Juan F
authors.initials: JF
authors.lastname: Sanchez Muñoz-Torrero
authors.affiliation: Department of Endocrinology, Hospital Central, Asturias, Spain.
authors.forename: Ceferino
authors.initials: C
authors.lastname: Martinez-Faedo
authors.affiliation: Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain.
authors.forename: José P
authors.initials: JP
authors.lastname: Miramontes-Gonzalez
authors.affiliation: Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain.
authors.forename: Lina
authors.initials: L
authors.lastname: Badimón
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain. Electronic address: pmata@colesterolfamiliar.org.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
mesh_terms: D000293:Adolescent; D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D000069059:Atorvastatin / Q000008:administration & dosage*; D015415:Biomarkers / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood*; D004305:Dose-Response Relationship, Drug; D004359:Drug Therapy, Combination; D000069438:Ezetimibe / Q000008:administration & dosage*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000188:drug therapy* / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D012042:Registries; D000068718:Rosuvastatin Calcium / Q000008:administration & dosage*; D013030:Spain / Q000453:epidemiology; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000924:Anticholesteremic Agents; D015415:Biomarkers; D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D000068718:Rosuvastatin Calcium; D000069059:Atorvastatin; D000069438:Ezetimibe
keywords: LDL-receptor mutations; cardiovascular disease; lipid-lowering therapy; low-density lipoprotein cholesterol