Incidence of cardiovascular events and changes in the estimated risk and treatment of familial hypercholesterolemia: the SAFEHEART registry.

Introduction And Objectives: The SAFEHEART study was designed to analyze the situation of familial heterozygous hypercholesterolemia (FHH) and improve knowledge of this disease in Spain. Our objective was to determine the incidence rate of cardiovascular events, the estimated risk of developing an event and its modification, the use of lipid-lowering treatment, and the achievement of low-density lipoprotein cholesterol targets in patients with FHH.

Methods: SAFEHEART is a prospective, open, multicenter, nationwide cohort study, with long-term protocol-based follow-up in a population of individuals with molecularly-characterized FHH.

Adults with familial hypercholesterolaemia have healthier dietary and lifestyle habits compared with their non-affected relatives: the SAFEHEART study.

Objective: Healthy lifestyle habits are the cornerstone in the management of familial hypercholesterolaemia (FH). Nevertheless, dietary studies on FH-affected populations are scarce. The present study analyses dietary habits, adherence to a Mediterranean diet pattern and physical activity in an adult population with FH and compares them with their non-affected relatives.

Coronary computed tomographic angiography findings and their therapeutic implications in asymptomatic patients with familial hypercholesterolemia. Lessons from the SAFEHEART study.

Background: Familial hypercholesterolemia (FH) confers an increased risk of premature atherosclerotic disease. Coronary computed tomographic angiography (CTA) can assess preclinical coronary atherosclerosis.

Objectives: To describe coronary CTA findings in asymptomatic molecularly defined FH individuals, to identify those factors related to its presence and extension, and to assess the impact of these results in patients' care and estimated risk.

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

Background And Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) registry.

Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia.

Background: Although familial hypercholesterolemia (FH) confers a high risk of coronary artery disease, most patients are undiagnosed, and little is known about the efficiency of genetic cascade screening programs at national level.

Objective: The aim of the study was to estimate the cost-effectiveness of a national genetic cascade screening program in Spain.

Methods: An economic evaluation was performed using a decision tree analysis.

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

Background: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region.

Objective: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.

Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study).

Background: Although risk factors for atherosclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described, models for predicting incident ASCVD have not been reported. Our aim was to use the SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study) to define key risk factors for predicting incident ASCVD in patients with FH.

Methods: SAFEHEART is a multicenter, nationwide, long-term prospective cohort study of a molecularly defined population with FH with or without previous ASCVD.

Attainment of LDL Cholesterol Treatment Goals in Children and Adolescents With Familial Hypercholesterolemia. The SAFEHEART Follow-up Registry.

Introduction And Objectives: Little is known about the characteristics of persons with familial hypercholesterolemia (FH) younger than 18 years, the lipid-lowering therapy used in these patients, and the lipid goals reached in real life. Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry.

Methods: We analyzed patients younger than 18 years enrolled in a large ongoing registry of molecularly-defined patients with FH in Spain.

Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial Hypercholesterolaemia: Insights From the SAFEHEART Registry (Spanish Familial Hypercholesterolaemia Cohort Study).

Objective: Heterozygous familial hypercholesterolemia (FH) is the most common premature atherosclerotic cardiovascular disease (ASCVD)-related monogenic disorder, and it is associated with ischemic heart disease. There is limited information whether FH increases the risk of peripheral arterial and cerebrovascular disease. Our aim was to analyze ASCVD prevalence and characteristics in different arterial territories in a large FH population, to compare them with an unaffected control population and to determine which factors are associated to ASCVD.

Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up.

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.

Statins do not increase the risk of developing type 2 diabetes in familial hypercholesterolemia: The SAFEHEART study.

Background: Familial Hypercholesterolemia (FH) is the most common monogenic disorder that causes premature coronary artery disease (CAD). Our objective was to examine the risk of new onset type 2 diabetes mellitus (T2DM) among FH patients and unaffected relatives in relation to treatment with different statins in the SAFEHEART cohort study.

Methods: This is a cross-sectional and prospective cohort study in 2558 FH and 1265 unaffected relatives with a mean follow-up of 5.

Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation.

Objectives: The aim of this study was to determine the relationship between lipoprotein(a) [Lp(a)] and cardiovascular disease (CVD) in a large cohort of patients with heterozygous familial hypercholesterolemia (FH).

Background: Lp(a) is considered a cardiovascular risk factor. Nevertheless, the role of Lp(a) as a predictor of CVD in patients with FH has been a controversial issue.

Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes.

Familial hypercholesterolemia (FH) is the most frequent inherited disorder associated with premature coronary artery disease. Early identification and treatment of patients will reduce cardiovascular outcomes. Identification of index cases and then cascade testing in first-degree relatives using lipid levels and genetic test is the most cost-effective strategy implemented in some countries.

Quality of life in a cohort of familial hypercholesterolemia patients from the south of Europe.

Objectives: This study describes health-related quality of life (HRQL) in a large sample of molecularly defined familial hypercholesterolemia (FH) patients compared with unaffected relatives.

Study Design And Setting: Cross-sectional study of cases recruited in the Spanish FH cohort study. A total of 1947 subjects ≥18 years were included-1321 FH and 626 unaffected relatives.

Effect of a smoking ban and school-based prevention and control policies on adolescent smoking in Spain: a multilevel analysis.

We evaluated the impact of a smoking ban in schools and of school-based smoking prevention and control policies on adolescent smoking. Annual surveys carried out between 2001 and 2005 that were representative of students in the 4th year of secondary education in the Madrid region, with 203 schools and 9127 students participating. The student questionnaire gathered information about personal and family variables.

Detection of subclinical atherosclerosis in familial hypercholesterolemia using non-invasive imaging modalities.

Objectives: To investigate the extent of subclinical atherosclerosis in asymptomatic familial hypercholesterolemia (FH) patients using non-invasive images techniques.

Patients, Methods And Results: The atherosclerotic burden of 36 molecularly defined FH patients (18 males, 45.7±10.

Individual and contextual factors associated to smoking on school premises.

Introduction: Despite regulations, tobacco consumption in schools is still very common. The objective was to evaluate the relationship of personal, family, and school-level contextual factors with smoking on school premises.

Methods: A representative survey was undertaken of students in the 4th year of secondary education in the Madrid region (Spain), including 79 schools and 3,622 individuals.

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

Aim: 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.

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Objectives: The aim of this study was to validate the Lipochip genetic diagnostic platform by assessing effectiveness, sensitivity, specificity and costs for the identification of patients with familial hypercholesterolemia (FH) in Spain. This platform includes the use of a DNA micro array, the detection of large gene rearrangements and the complete resequencing of the low-density lipoprotein receptor gene.

Design And Methods: DNA samples of patients with clinically diagnosed FH were analyzed for mutations by application of the Lipochip platform.

[Cost-effectiveness of managing familial hypercholesterolemia using atorvastatin-based preventive therapy].

Introduction And Objectives: A cost-effectiveness model was developed to evaluate the efficiency of different preventive strategies in familial hypercholesterolemia (FH) in comparison with routine clinical practice (CP): atorvastatin monotherapy, 40 mg (A40) or 80 mg (A80, and atorvastatin combined with ezetimibe, 10 mg (A40+E10 or A80+E10).

Methods: A longitudinal population model with a time horizon for life-expectancy was developed within the context of the Spanish public healthcare system. Life tables for the Spanish population (2002) were modified using the standardized mortality rate for individuals with FH.

Impact of the "Tobacco control law" on exposure to environmental tobacco smoke in Spain.

Background: The initial evaluations of the introduction of legislation that regulates smoking in enclosed public places in European countries, describe an important effect in the control of exposure to environmental tobacco smoke. However, the evidence is still limited. The objective of this study is to estimate the short-term effects of the comprehensive "Tobacco control law" introduced in Spain on January 2006, which includes a total ban of smoking in workplaces and a partial limitation of smoking in bars and restaurants.

Benefits and risks assessment of simvastatin in familial hypercholesterolaemia.

Familial hypercholesterolaemia (FH) is a frequent inherited monogenic disorder, associated with premature coronary artery disease. Life expectancy of FH patients is reduced by 15 - 30 years unless they are adequately treated with lipid-lowering therapy. Patients with this disorder need long-term drug therapy and the selection of treatment should be strongly based on its long-term safety and tolerability.