Enfermedad cardiovascular y calidad de vida en la hipercolesterolemia familiar

Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Medicina Preventiva y Salud Pública y Microbiología. Fecha de lectura: 23/06/201

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

<p>Abstract</p> <p>Aim</p> <p>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.</p> <p>Methods and Results</p> <p>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.</p> <p>Conclusion</p> <p>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.</p

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

<p>Abstract</p> <p>Aim</p> <p>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.</p> <p>Methods and Results</p> <p>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.</p> <p>Conclusion</p> <p>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.</p

Characteristics of COVID-19 cases and contacts reported in an area of Madrid during beginning of de-escalation

[ES] Fundamentos: La desescalada iniciada en mayo de 2020 aumenta las interacciones sociales, lo que influye en la vigilancia epidemiológica de la COVID-19. Este estudio tuvo como objetivo caracterizar los casos identificados durante este periodo. Métodos: Se analizaron parámetros de interés de las encuestas epidemiológicas realizadas en un área de Madrid durante mayo de 2020, estratificando los resultados según su relación temporal con la desescalada. Para las distintas opciones de respuesta, se calculó la prevalencia, y para la duración de la encuesta, la media en minutos. Los intervalos de confianza se estimaron al 95%. Resultados: Se incluyeron 167 casos, siendo un 30,5% incidentes y un 49,1% prevalentes. El principal lugar de contagio fue el domicilio (38,8%; IC 95% 31,4- 46,2). En el caso de los trabajadores sanitarios y sociosanitarios fue el centro de trabajo (93,0%; 85,4-100). El número medio de contactos por caso fue 2,0 (1,8-2,2), siendo 1,5 (1,0-2,0) en los casos incidentes predesescalada y 2,4 (1,8-3,0) en los postdesescalada. El tiempo medio por encuesta fue de 35,9 minutos (32,2-38,9), siendo 32,1 (24,4-39,8) en los incidentes predesescalada y 37,0 (29,6-44,4) en los postdesescalada. El principal ámbito de contacto fue el domicilio, tanto antes como después del inicio de la desescalada. Conclusiones: Los contagios se producen principalmente en el domicilio en el caso de la población general y en el centro de trabajo en cuanto a los profesionales sanitarios y sociosanitarios. La fase inicial de la desescalada no supone un cambio en las fuentes de exposición, pero sí podría haber aumentado el número de contactos a investigar. [EN] Background: Deescalation began in May 2020 increases social interaction, which has an influence on COVID-19 epidemiological surveillance. The aim of this study was the characterization of COVID-19 cases detected during this period. Methods: We analyzed certain variables of interest coming from the epidemiological surveys carried out in an area of Madrid during May 2020, and stratified the results depending on its temporal relation with the deescalation. Prevalence for each category of response and average duration in minutes of the telephonic call were calculated. Confidence intervals were estimated at 95%. Results: We included 167 cases, being 30.5% of them incident and 49.1% prevalent. The main source of infection was home (38.0%; CI 95% 31.4-46.2). Regarding healthcare and social care workers, the main source of infection was workplace (93.0%; 85.4-100). Average number of close contacts per case was 2.0 (1.8-2.2), being 1.5 (1.0-2.0) among pre-deescalation incident cases and 2.4 (1.8-3.0) among those post-deescalation. Average duration of each survey was 35.9 minutes (32.2-38.9), being 32.1 (24.4-39.8) among pre-deescalation incident cases and 37.0 (29.6-44.4) among those post-deescalation. Most of the contacts were household, both before and after beginning of deescalation. Conclusions: Home is the most prevalent place for the acquisition of the infection among general population, while workplace is the most prevalent among healthcare and social care workers. The initial phase of deescalation do not represents a change regarding sources of infection, but it may increase the number of close contacts.S

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

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>Cross-sectional, population-based study. The self-reported exposure to environmental tobacco smoke at home, at work, in bars and restaurants of the population aged 18 to 64 years in the Madrid Region during a period prior to the law (October and November 2005; n = 1750) was compared to that of the period immediately after the law came into force (January-July 2006; n = 1252). Adjusted odds ratios (OR) were calculated using logistic regression models.</p> <p>Results</p> <p>Passive exposure to tobacco smoke at home has hardly changed. However, at indoor workplaces there has been a considerable reduction: after the law came into force the OR for daily exposure > 0–3 hours versus non-exposure was 0.11 (95% CI: 0.07 to 0.17) and for more than 3 hours, 0.12 (95% CI: 0.09 to 0.18). For fairly high exposure in bars and restaurants versus non-exposure, the OR in the former was 0.30 (95% CI: 0.20 to 0.44) and in the latter was 0.24 (95% CI: 0.18 to 0.32); for very high exposure versus non-exposure they were 0.16 (95% CI: 0.10 to 0.24) and 0.11 (95% CI: 0.07 to 0.19), respectively. These results were similar for the smoking and non-smoking populations.</p> <p>Conclusion</p> <p>A considerable reduction in exposure to environmental tobacco smoke in the workplace and, to a lesser extent, in bars and restaurants, is related to the implementation of the "Tobacco control law". Although only initial figures, these results already demonstrate the effectiveness of strategies that establish control measures to guarantee smoke-free places.</p

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 offamilial hypercholesterolaemia (FH). Nevertheless, dietary studies on FH-affectedpopulations are scarce. The present study analyses dietary habits, adherence to aMediterranean diet pattern and physical activity in an adult population with FHand compares them with their non-affected relatives.[Design] Cross-sectional study.[Setting] Data came from SAFEHEART, a nationwide study in Spain.[Participants] Individuals (n 3714) aged ≥18 years with a genetic diagnosis of FH (n2736) and their non-affected relatives (n 978). Food consumption was evaluated using a validated FFQ.[Results] Total energy intake was lower in FH patients v. non-affected relatives (P<0·005). Percentage of energy from fats was also lower in the FH population (35 % in men, 36 % in women) v. those non-affected (38 % in both sexes, P<0·005), due to the lower consumption of saturated fats (12·1 % in FH patients, 13·2 % in non-affected, P<0·005). Consumption of sugars was lower in FH patients v. non-affected relatives (P<0·05). Consumption of vegetables, fish and skimmed milk was higher in the FH population (P<0·005). Patients with FH showed greater adherence to a Mediterranean diet pattern v. non-affected relatives (P<0·005). Active smoking was lower and moderate physical activity was higher in people with FH, especially women (P<0·005).[Conclusions] Adult patients with FH report healthier lifestyles than their non-affected family members. They eat a healthier diet, perform more physical activity and smoke less. However, this patient group’s consumption of saturated fats and sugars still exceeds guidelines.This work was supported by Fundación Hipercolesterolemia Familiar; the Instituto de Salud Carlos III (ISCIII; grant numbers G03/181 and FIS PI12/01289); and Centro Nacional de Investigación Cardiovascular (CNIC; grant number 08-2008)

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

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. DNA samples of patients with clinically diagnosed FH were analyzed for mutations by application of the Lipochip platform. Results obtained were confirmed by DNA sequencing and MLPA analysis by two other, independent laboratories. Of 808 patients tested, Lipochip detected a mutation in 66% of the cases and of these 78% were detected by the micro array. A specificity of 99.5% at a sensitivity of 99.8% was reached. A positive test result could be reported within 22 days after start of analysis. The total average screening costs of $350 per case were significantly lower compared to other existing screening programs. Lipochip provides a reliable, fast and cheap alternative for the genetic testing of patients with clinically diagnosed F