Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART)

Authors: MATA, NELVA - Madrid Health Authority And Fundacion; ALONSO, RODRIGO - Iis-Fundacion Jimenez Diaz; BADIMON, LINA - Consejo Superior De Investigaciones Cientificas (CSIC); PADRO, TERESA - Consejo Superior De Investigaciones Cientificas (CSIC); FUENTES, FRANCISCO - Reina Sofia University; MUNIZ, OVIDIO - Hospital Virgen Del Rocío; PEREZ-JIMENEZ, FRANCISCO - Cordoba University; LOPEZ-MIRANDA, JOSE - Reina Sofia University; DIAZ, JOSE - Hospital Abente Y Lago; VIDAL, JOSE - Hospital De Lugo; BARBA, A - Hospital General De Albacete; PIEDECAUSA, MAR - Hospital De Elche; SANCHEZ, JUAN - Hospital De Caceres; IRIGOYEN, LUIS - Hospital De Vitoria; GUALLAR, ELISEO - National Center For Cardiovascular Research(CNIC); ORDOVAS, JOSE - Jean Mayer Human Nutrition Research Center On Aging At Tufts University; MATA, PEDRO - Madrid Health Authority And Fundacion

Submitted to: Lipids in Health and Disease
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 6/10/2011
Publication Date: 6/10/2011
Citation: Mata, N., Alonso, R., Badimon, L., Padro, T., Fuentes, F., Muniz, O., Perez-Jimenez, F., Lopez-Miranda, J., Diaz, J.L., Vidal, J.I., Barba, A., Piedecausa, M., Sanchez, J.F., Irigoyen, L., Guallar, E., Ordovas, J.M., Mata, P. 2011. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART). Lipids in Health and Disease. DOI: 10.1186/1476-511X-10-94.

Interpretive Summary: 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, a cross-sectional Spanish FH cohort. Data from 1852 subjects (47.5% males) over 19 years old were analyzed: 1262 (68%, mean age 45.6 years) had genetic diagnosis of FH and 590 (32%, mean age 41.3 years) were non-FH. Cardiovascular disease was present in 14% of FH and in 3.2% of non-FH subjects. Prevalence of current smokers was 28% in FH subjects. Most FH cases (84%) were receiving LLT. Mean LDL-c level in treated FH cases was 187 mg/dl and only 3.4% of patients reached an LDL-c under 100 mg/dl. The best predictor for LDL-c goal attainment was the use of combined therapy with statin and ezetimibe. In summary, although most of this high risk population is receiving LLT, LDL-c levels are still high and far from the optimum LDL-c therapeutic goal. These data suggest that research is needed to determine if dietary intervention will improve efficacy of lipid lowering drugs.

Technical Abstract: 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. 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 less than 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 less than 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. 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.