Author + information
- Received October 21, 2015
- Revision received December 17, 2015
- Accepted January 5, 2016
- Published online March 22, 2016.
- Leopoldo Perez de Isla, MDa,b,∗∗ (, )
- Rodrigo Alonso, MDb,c,
- Gerald F. Watts, MDd,e,
- Nelva Mata, MDb,f,
- Adriana Saltijeral Cerezo, MDb,g,
- Ovidio Muñiz, MDh,
- Francisco Fuentes, MDi,
- José Luís Diaz-Diaz, MDj,
- Raimundo de Andrés, MDk,
- Daniel Zambón, MDl,
- Patricia Rubio-Marin, MDm,
- Miguel A. Barba-Romero, MDn,
- Pedro Saenz, MDo,
- Juan F. Sanchez Muñoz-Torrero, MDp,
- Ceferino Martinez-Faedo, MDq,
- José P. Miramontes-Gonzalez, MDr,
- Lina Badimón, MDs,
- Pedro Mata, MDb,∗ (, )
- SAFEHEART Investigators
- aCardiology Department. Hospital Clínico San Carlos, IDISSC, Madrid, Spain
- bFundación Hipercolesterolemia Familiar, Madrid, Spain
- cClínica las Condes, Santiago de Chile, Chile
- dLipid Disorders Clinic, Centre for Cardiovascular Medicine, Royal Perth Hospital, Perth, Australia
- eSchool of Medicine and Pharmacology, University of Western Australia, Perth, Australia
- fDepartment of Epidemiology, Madrid Health Authority, Madrid, Spain
- gCardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain
- hDepartment of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain
- iDepartment of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain
- jDepartment of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain
- kDepartment of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain
- lDepartment of Endocrinology, Hospital Clinic, Barcelona, Spain
- mDepartment of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain
- nDepartment of Internal Medicine, Complejo Hospitalario Universitario, Albacete, Spain
- oDepartment of Internal Medicine, Hospital de Mérida, Extremadura, Spain
- pDepartment of Internal Medicine, Hospital San Pedro de Alcántara, Cáceres, Spain
- qDepartment of Endocrinology, Hospital Central, Asturias, Spain
- rDepartment of Internal Medicine, Hospital Univeritario, Salamanca, Spain
- sInstituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain
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.
Objectives 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.
- cardiovascular disease
- LDL-receptor mutations
- lipid-lowering therapy
- low-density lipoprotein cholesterol
This work was supported by Fundación Hipercolesterolemia Familiar; grant G03/181 and FIS PI12/01289 from Instituto de Salud Carlos III (ISCIII), grant 08-2008 Centro Nacional de Investigación Cardiovascular (CNIC). Dr. Perez de Isla has received speaker fees from Merck Sharp & Dohme, and AstraZeneca. Dr. Alonso has received speaker fees from AMGEN, AEGERION, and ISIS. Drs. Watts and P. Mata have received honoraria for participation on advisory boards for Amgen and Sanofi; and have received research grants from Amgen and Sanofi. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Received October 21, 2015.
- Revision received December 17, 2015.
- Accepted January 5, 2016.
- American College of Cardiology Foundation