Leopoldo Perez de Isla1, Rodrigo Alonso2, Gerald F Watts3, Nelva Mata4, Adriana Saltijeral Cerezo5, Ovidio Muñiz6, Francisco Fuentes7, José Luís Diaz-Diaz8, Raimundo de Andrés9, Daniel Zambón10, Patricia Rubio-Marin11, Miguel A Barba-Romero12, Pedro Saenz13, Juan F Sanchez Muñoz-Torrero14, Ceferino Martinez-Faedo15, José P Miramontes-Gonzalez16, Lina Badimón17, Pedro Mata18. 1. Cardiology Department. Hospital Clínico San Carlos, IDISSC, Madrid, Spain; Fundación Hipercolesterolemia Familiar, Madrid, Spain. Electronic address: leopisla@hotmail.com. 2. Fundación Hipercolesterolemia Familiar, Madrid, Spain; Clínica las Condes, Santiago de Chile, Chile. 3. Lipid Disorders Clinic, Centre for Cardiovascular Medicine, Royal Perth Hospital, Perth, Australia; School of Medicine and Pharmacology, University of Western Australia, Perth, Australia. 4. Fundación Hipercolesterolemia Familiar, Madrid, Spain; Department of Epidemiology, Madrid Health Authority, Madrid, Spain. 5. Fundación Hipercolesterolemia Familiar, Madrid, Spain; Cardiology Department, Hospital del Tajo, Aranjuez, Madrid, Spain. 6. Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain. 7. Department of Internal Medicine, Hospital Universitario, Reina Sofía, Córdoba, Spain. 8. Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain. 9. Department of Internal Medicine, Fundación Jiménez Díaz, Madrid, Spain. 10. Department of Endocrinology, Hospital Clinic, Barcelona, Spain. 11. Department of Internal Medicine, Hospital SAS de Jerez de la Frontera, Cádiz, Spain. 12. Department of Internal Medicine, Complejo Hospitalario Universitario, Albacete, Spain. 13. Department of Internal Medicine, Hospital de Mérida, Extremadura, Spain. 14. Department of Internal Medicine, Hospital San Pedro de Alcántara, Cáceres, Spain. 15. Department of Endocrinology, Hospital Central, Asturias, Spain. 16. Department of Internal Medicine, Hospital Univeritario, Salamanca, Spain. 17. Instituto Catalán Ciencias Cardiovasculares, IIB-Sant Pau, Barcelona, Spain. 18. Fundación Hipercolesterolemia Familiar, Madrid, Spain. Electronic address: pmata@colesterolfamiliar.org.
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. 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.
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 FHpatients 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 FHpatients 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: Gerald F Watts; Samuel S Gidding; Pedro Mata; Jing Pang; David R Sullivan; Shizuya Yamashita; Frederick J Raal; Raul D Santos; Kausik K Ray Journal: Nat Rev Cardiol Date: 2020-01-23 Impact factor: 32.419
Authors: Anne C Goldberg; Lawrence A Leiter; Erik S G Stroes; Seth J Baum; Jeffrey C Hanselman; LeAnne T Bloedon; Narendra D Lalwani; Pragna M Patel; Xin Zhao; P Barton Duell Journal: JAMA Date: 2019-11-12 Impact factor: 56.272