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

Nelva Mata1, Rodrigo Alonso2, Lina Badimón3, Teresa Padró3, Francisco Fuentes4, Ovidio Muñiz5, Francisco Perez-Jiménez4, José López-Miranda4, Jose L Díaz6, Jose I Vidal7, A Barba8, Mar Piedecausa9, Juan F Sanchez10, Luis Irigoyen11, Eliseo Guallar1213, José M Ordovas1314 and Pedro Mata2*

Author Affiliations

1 Department of Epidemiology, Madrid Health Authority and Fundación Hipercolesterolemia Familiar, Madrid, Spain

2 Lipid, Clinic, Internal Medicine Department. IIS-Fundación Jiménez Díaz, Madrid

3 Centro de Investigación Cardiovascular CSIC-ICCC, Hospital Sant Pau and IIB-Sant Pau, and CIBEROBN, ISC III, Barcelona, Spain

4 Lipid Unit, IMIBIC/Hospital Reina Sofía and CIBEROBN, ISC III, Cordoba

5 Internal Medicine Department. Hospital Virgen del Rocío, Sevilla, Spain

6 Internal Medicine Department. Hospital Abente y Lago, A Coruña, Spain

7 Endocrinology Department, Hospital de Lugo, Spain

8 Internal Medicine Department. Hospital General de Albacete, Spain

9 Internal Medicine Department. Hospital de Elche, Spain

10 Internal Medicine Department. Hospital de Cáceres, Spain

11 Endocrinology Department. Hospital de Vitoria, Spain

12 Departments of Epidemiology and Medicine. Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA

13 Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain

14 Nutrition and Genomics Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging, Tufts University, Boston, MA, USA

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Lipids in Health and Disease 2011, 10:94  doi:10.1186/1476-511X-10-94

Published: 10 June 2011



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.

Methods and 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.


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.

Familial hypercholesterolemia; Coronary artery disease; LDL-receptor mutations; LDL-c goal; combined therapy