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1.
Clin Investig Arterioscler ; 36(3): 133-194, 2024.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38490888

RESUMEN

One of the objectives of the Spanish Society of Arteriosclerosis is to contribute to the knowledge, prevention and treatment of vascular diseases, which are the leading cause of death in Spain and entail a high degree of disability and health expenditure. Atherosclerosis is a multifactorial disease and its prevention requires a global approach that takes into account the associated risk factors. This document summarises the current evidence and includes recommendations for patients with established vascular disease or at high vascular risk: it reviews the symptoms and signs to evaluate, the laboratory and imaging procedures to request routinely or in special situations, and includes the estimation of vascular risk, diagnostic criteria for entities that are vascular risk factors, and general and specific recommendations for their treatment. Finally, it presents aspects that are not usually referenced in the literature, such as the organisation of a vascular risk consultation.


Asunto(s)
Aterosclerosis , Enfermedades Vasculares , Humanos , Enfermedades Vasculares/prevención & control , Enfermedades Vasculares/diagnóstico , España , Aterosclerosis/prevención & control , Aterosclerosis/diagnóstico , Salud Global , Factores de Riesgo , Factores de Riesgo de Enfermedad Cardiaca , Enfermedades Cardiovasculares/prevención & control , Enfermedades Cardiovasculares/etiología , Sociedades Médicas/normas
2.
Circ Cardiovasc Imaging ; 17(1): e016206, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38205656

RESUMEN

BACKGROUND: Intensive lipid-lowering therapy may induce coronary atherosclerosis regression. Nevertheless, the factors underlying the effect of lipid-lowering therapy on disease regression remain poorly characterized. Our aim was to determine which characteristics of atherosclerotic plaque are associated with a greater reduction in coronary plaque burden (PB) after treatment with alirocumab in patients with familial hypercholesterolemia. METHODS: The ARCHITECT study (Effect of Alirocumab on Atherosclerotic Plaque Volume, Architecture and Composition) is a phase IV, open-label, multicenter, single-arm clinical trial to assess the effect of the treatment with alirocumab for 78 weeks on the coronary atherosclerotic PB and its characteristics in subjects with familial hypercholesterolemia without clinical atherosclerotic cardiovascular disease. Participants underwent a coronary computed tomographic angiography at baseline and a final one at 78 weeks. Every patient received alirocumab 150 mg subcutaneously every 14 days in addition to high-intensity statin therapy. RESULTS: One hundred and four patients were enrolled. Median age was 53.3 (46.2-59.4) years and 54 were women (51.9%). The global coronary PB changed from 34.6% (32.5%-36.8%) at entry to 30.4% (27.4%-33.4%) at follow-up, which is -4.6% (-7.7% to -1.9%; P<0.001) reduction. A decrease in the percentage of unstable core (fibro-fatty+necrotic plaque; from 14.1 [7.9-22.3] to 8.0 [6.4-10.6]; -6.6%; P<0.001) was found. A greater PB (ß, 0.36 [0.13-0.59]; P=0.002) and a higher proportion of unstable core (ß, 0.15 [0.08-0.22]; P<0.001) were significantly related to PB regression. CONCLUSIONS: Treatment with alirocumab in addition to high-intensity statin therapy might produce a greater PB regression in patients with familial hypercholesterolemia with higher baseline PB and in those with larger unstable core. Further studies are needed to corroborate the hypothesis raised by these results. REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT05465278.


Asunto(s)
Anticuerpos Monoclonales Humanizados , Enfermedad de la Arteria Coronaria , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Hipercolesterolemia , Hiperlipoproteinemia Tipo II , Placa Aterosclerótica , Humanos , Femenino , Persona de Mediana Edad , Masculino , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/tratamiento farmacológico , Enfermedad de la Arteria Coronaria/inducido químicamente , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Placa Aterosclerótica/tratamiento farmacológico , Placa Aterosclerótica/complicaciones , Hipercolesterolemia/inducido químicamente , Hipercolesterolemia/complicaciones , Hipercolesterolemia/tratamiento farmacológico , LDL-Colesterol/uso terapéutico , Hiperlipoproteinemia Tipo II/complicaciones , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Resultado del Tratamiento
3.
Circulation ; 147(19): 1436-1443, 2023 05 09.
Artículo en Inglés | MEDLINE | ID: mdl-37009731

RESUMEN

BACKGROUND: The effect of alirocumab, a PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitor, on coronary plaque burden in patients with familial hypercholesterolemia has not been addressed. Our aim was to assess changes in coronary plaque burden and its characteristics after treatment with alirocumab by quantification and characterization of atherosclerotic plaque throughout the coronary tree on the basis of a noninvasive analysis of coronary computed tomographic angiography in asymptomatic subjects with familial hypercholesterolemia receiving optimized and stable treatment with maximum tolerated statin dose with or without ezetimibe. METHODS: This study is a phase IV, open-label, multicenter, single-arm clinical trial to assess changes in coronary plaque burden and its characteristics after 78 weeks of treatment with alirocumab in patients with familial hypercholesterolemia without clinical atherosclerotic cardiovascular disease. Participants underwent an initial coronary computed tomographic angiography at baseline and another at 78 weeks. Every patient received 150 mg of alirocumab subcutaneiously every 14 days in addition to high-intensity statin therapy. The main outcome was the change on coronary plaque burden and its characteristics by quantification and characterization of atherosclerotic plaque throughout the coronary tree on the basis of analysis of coronary computed tomographic angiography. RESULTS: The study was completed by 104 patients. The median age was 53.3 (46.2-59.4) years. Of these patients, 54 were women (51.9%). Median low-density lipoprotein cholesterol was 138.9 (117.5-175.3) mg/dL at entry and 45.0 (36.0-65.0) mg/dL at follow-up (P<0.001). Coronary plaque burden changed from 34.6% (32.5%-36.8%) at entry to 30.4% (27.4%-33.4%) at follow-up (P<0.001). A significant change in the characteristics of the coronary atherosclerosis was also found: an increase in the proportion of calcified (+0.3%; P<0.001) and mainly fibrous (+6.2%; P<0.001) plaque, accompanied by a decrease in the percentage of fibro-fatty (-3.9%; P<0.001) and necrotic plaque (-0.6%; P<0.001). CONCLUSIONS: Treatment with alirocumab in addition to high-intensity statin therapy resulted in significant regression of coronary plaque burden and plaque stabilization on coronary computed tomographic angiography over 78 weeks in these groups of patients with familial hypercholesterolemia without clinical atherosclerotic cardiovascular disease. ARCHITECT (Effect of Alirocumab on Atherosclerotic Plaque Volume, Architecture and Composition) could link and explain ODYSSEY OUTCOMES (Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab) results. REGISTRATION: URL: https://www. CLINICALTRIALS: gov; Unique identifier: NCT05465278.


Asunto(s)
Síndrome Coronario Agudo , Aterosclerosis , Enfermedad de la Arteria Coronaria , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Hipercolesterolemia , Hiperlipoproteinemia Tipo II , Placa Aterosclerótica , Humanos , Femenino , Persona de Mediana Edad , Masculino , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Proproteína Convertasa 9 , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/tratamiento farmacológico , Hipercolesterolemia/tratamiento farmacológico , Placa Aterosclerótica/tratamiento farmacológico , Hiperlipoproteinemia Tipo II/complicaciones , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Aterosclerosis/tratamiento farmacológico , Síndrome Coronario Agudo/tratamiento farmacológico , Resultado del Tratamiento
4.
JACC Cardiovasc Imaging ; 14(12): 2414-2424, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34274263

RESUMEN

OBJECTIVES: This study aimed at investigating the additional contribution of coronary artery calcium (CAC) score to SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) risk equation (SAFEHEART-RE) for cardiovascular risk prediction in heterozygous familial hypercholesterolemia (HeFH). BACKGROUND: Common cardiovascular risk equations are imprecise for HeFH. Because of the high phenotype variability of HeFH, CAC score could help to better stratify the risk of atherosclerotic cardiovascular disease (ASCVD). METHODS: REFERCHOL (French Registry of Familial Hypercholesterolemia) and SAFEHEART are 2 ongoing national registries on HeFH. We analyzed data from primary prevention HeFH patients undergoing CAC quantification. We used probability-weighted Cox proportional hazards models to estimate HRs. Area under the receiver-operating characteristic curve (AUC) and net reclassification improvement (NRI) were used to compare the incremental contribution of CAC score when added to the SAFEHEART-RE for ASCVD prediction. ASCVD was defined as coronary heart disease, stroke or transient ischemic attack, peripheral artery disease, resuscitated sudden death, and cardiovascular death. RESULTS: We included 1,624 patients (mean age: 48.5 ± 12.8 years; men: 45.7%) from both registries. After a median follow-up of 2.7 years (interquartile range: 0.4-5.0 years), ASCVD occurred in 81 subjects. The presence of a CAC score of >100 was associated with an HR of 32.05 (95% CI: 10.08-101.94) of developing ASCVD as compared to a CAC score of 0. Receiving-operating curve analysis showed a good performance of CAC score alone in ASCVD prediction (AUC: 0.860 [95% CI: 0.853-0.869]). The addition of log(CAC + 1) to SAFEHEART-RE resulted in a significantly improved prediction of ASCVD (AUC: 0.884 [95% CI: 0.871-0.894] for SAFEHEART-RE + log(CAC + 1) vs AUC: 0.793 [95% CI: 0.779-0.818] for SAFEHEART-RE; P < 0.001). These results were confirmed also when considering only hard cardiovascular endpoints. The addition of CAC score was associated with an estimated overall net reclassification improvement of 45.4%. CONCLUSIONS: CAC score proved its use in improving cardiovascular risk stratification and ASCVD prediction in statin-treated HeFH.


Asunto(s)
Aterosclerosis , Enfermedad de la Arteria Coronaria , Hiperlipoproteinemia Tipo II , Calcificación Vascular , Adulto , Calcio , Estudios de Cohortes , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico por imagen , Hiperlipoproteinemia Tipo II/genética , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Medición de Riesgo , Factores de Riesgo , Calcificación Vascular/diagnóstico por imagen
5.
Nutr Metab Cardiovasc Dis ; 31(7): 2014-2022, 2021 06 30.
Artículo en Inglés | MEDLINE | ID: mdl-34039501

RESUMEN

BACKGROUND AND AIMS: Familial Hypercholesterolemia (FH) is characterized by elevated LDL-cholesterol (LDL-C) and high atherosclerosis risk. The impact of different dietary patterns on atherosclerosis biomarkers has been poorly studied in FH. This study verified the association of adherence to a Mediterranean diet with biomarkers of dyslipidemia and low-grade inflammation in molecularly proven FH adults from Brazil (BR) and Spain (SP). METHODS AND RESULTS: In this cross-sectional study adherence to the Mediterranean diet was assessed by a validated score and generalized estimating equations were used to evaluate its association with plasma LDL-C, apolipoprotein-B (ApoB) and high sensitivity C-reactive protein (hs-CRP) concentrations. We included 92 (mean age 45 years, 58.7% females) and 98 FH individuals (mean age 46.8 years, 60.2% females) respectively from BR and SP. FH causing variants did not differ between countries. LDL-C, ApoB and hs-CRP concentrations were higher in BR than in SP: 179 (135-250) and 161 (133-193) mg/dL; 141 (109-181) and 103 (88-134) mg/dL; and 1.6 (0.8-4.0) and 0.8 (0.4-1.5) mg/L respectively (all p < 0.001). Most of BR had low adherence (n = 77, 83.7%), while the majority of SP were divided into moderate (n = 35, 35.7%) and strong adherence to the Mediterranean diet (n = 37, 37.8%), p < 0.001. There was a significant inverse association of adherence to the Mediterranean diet score with higher LDL-C, ApoB, and hs-CRP after adjusting for socio economic parameters, caloric and fatty acid intakes as well as pharmacological lipid lowering therapies. CONCLUSIONS: Higher adherence to a Mediterranean diet was associated with better dyslipidemia and low-grade inflammation profiles in FH.


Asunto(s)
Enfermedades Cardiovasculares/prevención & control , Dieta Saludable , Dieta Mediterránea , Hiperlipoproteinemia Tipo II/dietoterapia , Mediadores de Inflamación/sangre , Inflamación/prevención & control , Lípidos/sangre , Cooperación del Paciente , Conducta de Reducción del Riesgo , Adulto , Biomarcadores/sangre , Brasil/epidemiología , Enfermedades Cardiovasculares/sangre , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/epidemiología , Estudios Transversales , Conducta Alimentaria , Femenino , Factores de Riesgo de Enfermedad Cardiaca , Humanos , Hiperlipoproteinemia Tipo II/sangre , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/epidemiología , Inflamación/sangre , Inflamación/diagnóstico , Inflamación/epidemiología , Masculino , Persona de Mediana Edad , Valor Nutritivo , Factores Protectores , Medición de Riesgo , España/epidemiología , Factores de Tiempo , Resultado del Tratamiento
6.
Public Health Nutr ; 22(8): 1433-1443, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30732662

RESUMEN

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. DESIGN: Cross-sectional study. SETTING: Data came from SAFEHEART, a nationwide study in Spain.ParticipantsIndividuals (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.


Asunto(s)
Dieta Mediterránea/psicología , Familia/psicología , Conducta Alimentaria/psicología , Estilo de Vida Saludable , Hiperlipoproteinemia Tipo II/psicología , Adulto , Estudios Transversales , Encuestas sobre Dietas , Ejercicio Físico/psicología , Femenino , Humanos , Hiperlipoproteinemia Tipo II/terapia , Masculino , Persona de Mediana Edad , Cooperación del Paciente/psicología , Cooperación del Paciente/estadística & datos numéricos
7.
Arterioscler Thromb Vasc Biol ; 36(9): 2004-10, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27444203

RESUMEN

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. APPROACH AND RESULTS: SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) is an ongoing registry of molecularly defined patients with heterozygous FH in Spain. ASCVD in the different arterial territories was analyzed, as well as individual characteristics, genetic variables, and lipid-lowering therapies. The study recruited 4132 subjects (3745 ≥18 years); 2,752 of those enrolled were molecularly diagnosed FH cases. Median age was 44.0 years (45.9% men) and 40 years (46.6% men) in FH patients and unaffected relatives (P<0.001). ASCVD was present in 358 (13.0%) and 47 (4.7%) FH patients and unaffected relatives, respectively (P<0.001). History of premature ASCVD was more prevalent in FH patients (9.4% and 2.4% in FH patients and unaffected relatives, respectively; P<0.001). Coronary artery-related manifestations and peripheral artery disease were more prevalent in FH patients than in controls, but no significant differences were found for cerebrovascular events. Age, body mass index, type 2 diabetes mellitus, high blood pressure, previous use of tobacco, and lipoprotein(a) >50 mg/dL were independently associated with ASCVD. CONCLUSIONS: The prevalence of ASCVD is higher, and the involvement of the arterial territories is different in FH patients when compared with their unaffected relatives. Age, male sex, increased body mass index, hypertension, type 2 diabetes mellitus, smoking habit, and lipoprotein(a) >50 mg/dL were independently associated to ASCVD. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov. Unique identifier: NCT02693548.


Asunto(s)
Enfermedad Coronaria/epidemiología , Hiperlipoproteinemia Tipo II/epidemiología , Enfermedad Arterial Periférica/epidemiología , Accidente Cerebrovascular/epidemiología , Adulto , Edad de Inicio , Anciano , Apolipoproteína B-100/genética , Estudios de Casos y Controles , Comorbilidad , Enfermedad Coronaria/diagnóstico , Enfermedad Coronaria/genética , Femenino , Predisposición Genética a la Enfermedad , Herencia , Heterocigoto , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/genética , Masculino , Persona de Mediana Edad , Epidemiología Molecular , Mutación , Linaje , Enfermedad Arterial Periférica/diagnóstico , Enfermedad Arterial Periférica/genética , Fenotipo , Prevalencia , Estudios Prospectivos , Receptores de LDL/genética , Sistema de Registros , Medición de Riesgo , Factores de Riesgo , Factores Sexuales , Fumar/efectos adversos , Fumar/epidemiología , España/epidemiología , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/genética
8.
Int J Cardiol ; 201: 79-84, 2015 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-26296047

RESUMEN

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 5.9 years. Several pertinent data, such as age, gender, metabolic syndrome, lipid profile, body mass index (BMI), waist circumference, HOMA-IR, dose, duration and type of statins, were obtained and examined as predictors of incident diabetes. RESULTS: The new onset diabetes was 1.7% in FH and 0.2% in non FH patients (p=0.001). In multivariate logistic regression, age (OR 1.02, CI 95%: 1.02-1.08), HOMA-IR (OR 1.17, CI 95%: 1.03-1.33), metabolic syndrome (OR 3.3, CI 95%: 1.32-8.28) and specifically plasma glucose, as a component of metabolic syndrome (OR 15.7, CI 95%: 4.70-52.53) were significant predictors of new onset T2DM in the FH group alone. In the adjusted Cox regression model in FH group, age (HR 1.03, CI 95% 1.00-1.06, p=0.031) and metabolic syndrome (HR 4.16, CI 95% 1.58-10.92, p=0.004) remained significant predictors of new onset T2DM. CONCLUSIONS: Our data do not support the postulated diabetogenic effect associated with high-dose statins use in our cohort of FH patients.


Asunto(s)
Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiología , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Hiperlipoproteinemia Tipo II/epidemiología , Adulto , Anciano , Estudios de Cohortes , Estudios Transversales , Diabetes Mellitus Tipo 2/inducido químicamente , Femenino , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/efectos adversos , Hiperlipoproteinemia Tipo II/diagnóstico , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Riesgo
9.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. impr.) ; 41(1): 24-33, ene.-mar. 2015. tab, ilus
Artículo en Español | IBECS | ID: ibc-132663

RESUMEN

La hipercolesterolemia familiar (HF) es un trastorno genético frecuente que se manifiesta desde el nacimiento y que causa un aumento en los niveles plasmáticos de colesterol-LDL (cLDL), xantomas y enfermedad coronaria prematura. Su detección y tratamiento precoz reduce la morbimortalidad coronaria. A pesar de la disponibilidad de un tratamiento eficaz, la HF está poco diagnosticada y tratada. La identificación de los casos índices y la posterior detección en cascada familiar utilizando los niveles de cLDL y la detección genética es la estrategia más coste-efectiva para la detección de nuevos casos. El tratamiento crónico con estatinas ha disminuido el riesgo cardiovascular a los niveles de la población general. Los objetivos en cLDL son < 130 mg/dl en los niños y adultos jóvenes, < 100 mg/dl en los adultos y < 70 mg/dl en los adultos con enfermedad coronaria conocida o diabetes. En la mayoría de los pacientes es difícil conseguir estos objetivos, por lo que puede ser necesario el tratamiento combinado con ezetimiba u otros fármacos. Cuando no se alcanzan los objetivos con el máximo tratamiento farmacológico tolerado, una reducción de cLDL ≥ 50% puede ser aceptable. La LDL-aféresis es útil en los pacientes homocigotos y en los heterocigotos graves resistentes al tratamiento. Este documento proporciona recomendaciones para el diagnóstico, cribado y tratamiento de la HF en niños y adultos, así como consejos específicos para los especialistas clínicos y médicos de atención primaria con el objetivo de mejorar el cuidado de los pacientes y reducir su carga de enfermedad cardiovascular (AU)


Familial hypercholesterolemia (FH) is a common genetic disorder, clinically manifested since birth, and associated with very high levels of plasma LDL-cholesterol (LDL-c), xanthomas, and premature coronary heart disease. Its early detection and treatment reduces coronary morbidity and mortality. Despite effective treatment being available, FH is under-diagnosed and under-treated. Identification of index cases and cascade screening using LDL-c levels and genetic testing are the most cost-effective strategies for detecting new cases and starting early treatment. Long-term treatment with statins has decreased the vascular risk to the levels of the general population. LDL-c targets are < 130 mg/dL for children and young adults, < 100 mg/dL for adults, and < 70 mg/dL for adults with known coronary heart disease or diabetes. Most patients do not to reach these goals, and combined treatments with ezetimibe or other drugs may be necessary. When the goals are not achieved with the maximum tolerated drug treatment, a reduction ≥ 50% in LDL-c levels can be acceptable. Lipoprotein apheresis can be useful in homozygous, and in treatment-resistant severe heterozygous, cases. This Consensus Paper gives recommendations on the diagnosis, screening, and treatment of FH in children and adults, and specific advice to specialists and general practitioners with the objective of improving the clinical management of these patients, in order to reduce the high burden of coronary heart disease (AU)


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Hipercolesterolemia/epidemiología , Hipercolesterolemia/prevención & control , Hipercolesterolemia/genética , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/genética , Hiperlipoproteinemia Tipo II/terapia , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/prevención & control , Hipercolesterolemia/diagnóstico , Hipercolesterolemia/terapia , España/epidemiología , Tamizaje Masivo/métodos
10.
Aten. prim. (Barc., Ed. impr.) ; 47(1): 56-65, ene. 2015. tab, ilus
Artículo en Español | IBECS | ID: ibc-131741

RESUMEN

La hipercolesterolemia familiar (HF) es un trastorno genético frecuente que se manifiesta desde el nacimiento y que causa un aumento en los niveles plasmáticos de colesterol-LDL (cLDL), xantomas y enfermedad coronaria prematura. Su detección y tratamiento precoz reduce la morbimortalidad coronaria. A pesar de la disponibilidad de un tratamiento eficaz, la HF está poco diagnosticada y tratada. La identificación de los casos índices y la posterior detección en cascada familiar utilizando los niveles de cLDL y la detección genética es la estrategia más coste-efectiva para la detección de nuevos casos. El tratamiento crónico con estatinas ha disminuido el riesgo cardiovascular a los niveles de la población general. Los objetivos en cLDL son < 130 mg/dl en los niños y adultos jóvenes, < 100 mg/dl en los adultos y < 70 mg/dl en los adultos con enfermedad coronaria conocida o diabetes. En la mayoría de los pacientes es difícil conseguir estos objetivos, por lo que puede ser necesario el tratamiento combinado con ezetimiba u otros fármacos. Cuando no se alcanzan los objetivos con el máximo tratamiento farmacológico tolerado, una reducción de cLDL ≥ 50% puede ser aceptable. La LDL-aféresis es útil en los pacientes homocigotos y en los heterocigotos graves resistentes al tratamiento. Este documento proporciona recomendaciones para el diagnóstico, cribado y tratamiento de la HF en niños y adultos, así como consejos específicos para los especialistas clínicos y médicos de atención primaria con el objetivo de mejorar el cuidado de los pacientes y reducir su carga de enfermedad cardiovascular


Familial hypercholesterolemia (FH) is a common genetic disorder, clinically manifested since birth, and associated with very high levels of plasma LDL-cholesterol (LDL-c), xanthomas, and premature coronary heart disease. Its early detection and treatment reduces coronary morbidity and mortality. Despite effective treatment being available, FH is under-diagnosed and under-treated. Identification of index cases and cascade screening using LDL-c levels and genetic testing are the most cost-effective strategies for detecting new cases and starting early treatment. Long-term treatment with statins has decreased the vascular risk to the levels of the general population. LDL-c targets are < 130 mg/dL for children and young adults, < 100 mg/dL for adults, and < 70 mg/dL for adults with known coronary heart disease or diabetes. Most patients do not to reach these goals, and combined treatments with ezetimibe or other drugs may be necessary. When the goals are not achieved with the maximum tolerated drug treatment, a reduction ≥ 50% in LDL-c levels can be acceptable. Lipoprotein apheresis can be useful in homozygous, and in treatment-resistant severe heterozygous, cases. This Consensus Paper gives recommendations on the diagnosis, screening, and treatment of FH in children and adults, and specific advice to specialists and general practitioners with the objective of improving the clinical management of these patients, in order to reduce the high burden of coronary heart disease


Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Adulto Joven , Adulto , Hipercolesterolemia/diagnóstico , Hipercolesterolemia/terapia , Medicina Familiar y Comunitaria/métodos , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/prevención & control , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , España/epidemiología , Tamizaje Masivo/métodos , Diagnóstico Precoz , Terapia Combinada , Hipercolesterolemia/tratamiento farmacológico , Hipercolesterolemia/genética , Hipercolesterolemia/fisiopatología
11.
Semergen ; 41(1): 24-33, 2015.
Artículo en Español | MEDLINE | ID: mdl-25042971

RESUMEN

Familial hypercholesterolemia (FH) is a common genetic disorder, clinically manifested since birth, and associated with very high levels of plasma LDL-cholesterol (LDL-c), xanthomas, and premature coronary heart disease. Its early detection and treatment reduces coronary morbidity and mortality. Despite effective treatment being available, FH is under-diagnosed and under-treated. Identification of index cases and cascade screening using LDL-c levels and genetic testing are the most cost-effective strategies for detecting new cases and starting early treatment. Long-term treatment with statins has decreased the vascular risk to the levels of the general population. LDL-c targets are <130mg/dL for children and young adults, <100mg/dL for adults, and <70mg/dL for adults with known coronary heart disease or diabetes. Most patients do not to reach these goals, and combined treatments with ezetimibe or other drugs may be necessary. When the goals are not achieved with the maximum tolerated drug treatment, a reduction ≥50% in LDL-c levels can be acceptable. Lipoprotein apheresis can be useful in homozygous, and in treatment-resistant severe heterozygous, cases. This Consensus Paper gives recommendations on the diagnosis, screening, and treatment of FH in children and adults, and specific advice to specialists and general practitioners with the objective of improving the clinical management of these patients, in order to reduce the high burden of coronary heart disease.


Asunto(s)
LDL-Colesterol/sangre , Hiperlipoproteinemia Tipo II/terapia , Tamizaje Masivo/métodos , Adulto , Factores de Edad , Niño , Consenso , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hiperlipoproteinemia Tipo II/diagnóstico , España , Adulto Joven
12.
Aten Primaria ; 47(1): 56-65, 2015 Jan.
Artículo en Español | MEDLINE | ID: mdl-24704195

RESUMEN

Familial hypercholesterolemia (FH) is a common genetic disorder, clinically manifested since birth, and associated with very high levels of plasma LDL-cholesterol (LDL-c), xanthomas, and premature coronary heart disease. Its early detection and treatment reduces coronary morbidity and mortality. Despite effective treatment being available, FH is under-diagnosed and under-treated. Identification of index cases and cascade screening using LDL-c levels and genetic testing are the most cost-effective strategies for detecting new cases and starting early treatment. Long-term treatment with statins has decreased the vascular risk to the levels of the general population. LDL-c targets are < 130 mg/dL for children and young adults, <100mg/dL for adults, and < 70 mg/dL for adults with known coronary heart disease or diabetes. Most patients do not to reach these goals, and combined treatments with ezetimibe or other drugs may be necessary. When the goals are not achieved with the maximum tolerated drug treatment, a reduction ≥ 50% in LDL-c levels can be acceptable. Lipoprotein apheresis can be useful in homozygous, and in treatment-resistant severe heterozygous, cases. This Consensus Paper gives recommendations on the diagnosis, screening, and treatment of FH in children and adults, and specific advice to specialists and general practitioners with the objective of improving the clinical management of these patients, in order to reduce the high burden of coronary heart disease.


Asunto(s)
Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/terapia , Algoritmos , Humanos , Guías de Práctica Clínica como Asunto , España
13.
Artículo en Español | IBECS | ID: ibc-127637

RESUMEN

La hiperlipidemia familiar combinada (HFC) es un trastorno muy frecuente asociado a enfermedad coronaria prematura. Se transmite de forma autosómica dominante, aunque no existe un gen único asociado al trastorno. El diagnóstico se realiza mediante criterios clínicos, y son importantes la variabilidad del fenotipo lipídico y la historia familiar de hiperlipidemia. Es frecuente la asociación con diabetes mellitus tipo 2, hipertensión arterial y obesidad central. Los pacientes con HFC se consideran de riesgo cardiovascular alto y el objetivo terapéutico es un colesterol-LDL < 100 mg/dl, y < 70 mg/dl en presencia de enfermedad cardiovascular establecida o diabetes mellitus. Los pacientes con HFC requieren tratamiento con estatinas potentes y, a veces, tratamiento combinado. La identificación y el manejo de otros factores de riesgo cardiovascular, como la diabetes y la hipertensión, son fundamentales para reducir la carga de enfermedad cardiovascular. Este documento proporciona recomendaciones para el diagnóstico y el tratamiento integral de los pacientes con HFC especialmente dirigidas a médicos de atención primaria (AU)


Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type 2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol < 100 mg/dL, and < 70 mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners (AU)


Asunto(s)
Humanos , Masculino , Femenino , Hiperlipidemia Familiar Combinada/epidemiología , Hiperlipidemia Familiar Combinada/prevención & control , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/prevención & control , Hipolipemiantes/uso terapéutico , Diagnóstico Diferencial , Trastornos del Metabolismo de los Lípidos/prevención & control , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/prevención & control , Trastornos del Metabolismo de los Lípidos/epidemiología
14.
Aten. prim. (Barc., Ed. impr.) ; 46(8): 440-446, oct. 2014. tab, graf
Artículo en Español | IBECS | ID: ibc-129450

RESUMEN

La hiperlipidemia familiar combinada (HFC) es un trastorno muy frecuente asociado a enfermedad coronaria prematura. Se transmite de forma autosómica dominante, aunque no existe un gen único asociado al trastorno. El diagnóstico se realiza mediante criterios clínicos, y son importantes la variabilidad del fenotipo lipídico y la historia familiar de hiperlipidemia. Es frecuente la asociación con diabetes mellitus tipo 2, hipertensión arterial y obesidad central. Los pacientes con HFC se consideran de riesgo cardiovascular alto y el objetivo terapéutico es un colesterol-LDL < 100 mg/dl, y < 70 mg/dl en presencia de enfermedad cardiovascular establecida o diabetes mellitus. Los pacientes con HFC requieren tratamiento con estatinas potentes y, a veces, tratamiento combinado. La identificación y el manejo de otros factores de riesgo cardiovascular, como la diabetes y la hipertensión, son fundamentales para reducir la carga de enfermedad cardiovascular. Este documento proporciona recomendaciones para el diagnóstico y el tratamiento integral de los pacientes con HFC especialmente dirigidas a médicos de atención primaria


Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type 2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol < 100 mg/dL, and < 70 mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners


Asunto(s)
Humanos , Masculino , Femenino , Hiperlipidemia Familiar Combinada/diagnóstico , Hiperlipidemia Familiar Combinada/genética , Hiperlipidemia Familiar Combinada/metabolismo , Hiperlipidemia Familiar Combinada/patología , Enfermedad Coronaria/complicaciones , Enfermedad Coronaria/patología , Fenotipo , Complicaciones de la Diabetes/complicaciones , Complicaciones de la Diabetes/diagnóstico , Obesidad Abdominal/patología , Hipertensión/patología
15.
Semergen ; 40(7): 374-80, 2014 Oct.
Artículo en Español | MEDLINE | ID: mdl-25131181

RESUMEN

Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol <100mg/dL, and <70mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners.


Asunto(s)
Anticolesterolemiantes/uso terapéutico , Enfermedades Cardiovasculares/prevención & control , Hiperlipidemia Familiar Combinada/terapia , Anticolesterolemiantes/administración & dosificación , Consenso , Diabetes Mellitus Tipo 2/epidemiología , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/administración & dosificación , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hiperlipidemia Familiar Combinada/complicaciones , Hiperlipidemia Familiar Combinada/diagnóstico , Hipertensión/epidemiología , Obesidad/epidemiología , Factores de Riesgo
16.
Aten Primaria ; 46(8): 440-6, 2014 Oct.
Artículo en Español | MEDLINE | ID: mdl-25034722

RESUMEN

Familial combined hyperlipidemia (FCH) is a frequent disorder associated with premature coronary artery disease. It is transmitted in an autosomal dominant manner, although there is not a unique gene involved. The diagnosis is performed using clinical criteria, and variability in lipid phenotype and family history of hyperlipidemia are necessaries. Frequently, the disorder is associated with type2 diabetes mellitus, arterial hypertension and central obesity. Patients with FCH are considered as high cardiovascular risk and the lipid target is an LDL-cholesterol <100mg/dL, and <70mg/dL if cardiovascular disease or type 2 diabetes are present. Patients with FCH require lipid lowering treatment using potent statins and sometimes, combined lipid-lowering treatment. Identification and management of other cardiovascular risk factors as type 2 diabetes and hypertension are fundamental to reduce cardiovascular disease burden. This document gives recommendations for the diagnosis and global treatment of patients with FCH directed to specialists and general practitioners.


Asunto(s)
Hiperlipidemia Familiar Combinada/diagnóstico , Hiperlipidemia Familiar Combinada/terapia , Algoritmos , Humanos , Guías de Práctica Clínica como Asunto
17.
Rev Esp Cardiol ; 60(9): 914-22, 2007 Sep.
Artículo en Español | MEDLINE | ID: mdl-17915147

RESUMEN

INTRODUCTION AND OBJECTIVES: To determine the effectiveness of a primarily educational intervention in heart failure (HF) patients implemented in a home care unit. METHODS: This randomized controlled clinical trial involved 279 HF patients who were discharged from a tertiary-care hospital between February 2001 and June 2002. Patients with dementia, terminal non-cardiac disease, or chronic obstructive pulmonary disease were excluded. Data collected included the cause of cardiac decompensation. A primarily educational intervention was implemented in the patient's home for up to 15 days after hospital discharge. Treatment was adjusted during the first week if necessary. The primary outcome measure was the 1-year cumulative incidence of readmission or death. Secondary measures were the incidence of readmission, mortality, and emergency department admission. Telephone interviews were carried out 3, 6 and 12 months after discharge, and clinical records were updated when necessary. Emergency department admission in the first 6 months was monitored. RESULTS: At 1-year follow-up, 62 of the 137 patients (45.3%) in the intervention group had been readmitted or died, compared with 75 of the 142 (52.8%) in the control group, (relative risk=0.86, P=.232). Among patients who suffered decompensation because failure to adhere to treatment, 16 of the 45 (35.6%) in the intervention group were readmitted or died, compared with 34 of the 56 (60.7%) control group patients (relative risk=0.59, P=.016). CONCLUSIONS: This intervention is feasible but, when applied indiscriminately to every discharged heart failure patient, the best that can be expected is only a modest reduction in readmission and death rates, which, in this study in particular, did not achieve statistical significance.


Asunto(s)
Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/terapia , Servicios de Atención de Salud a Domicilio , Readmisión del Paciente/estadística & datos numéricos , Anciano , Femenino , Humanos , Masculino , Alta del Paciente
18.
Rev. esp. cardiol. (Ed. impr.) ; 60(9): 914-922, sept. 2007. ilus, tab
Artículo en Es | IBECS | ID: ibc-058092

RESUMEN

Introducción y objetivos. Evaluar la eficacia de una intervención de educación en pacientes con insuficiencia cardiaca (IC) realizada por hospitalización a domicilio. Métodos. Ensayo clínico aleatorizado y controlado. Se incluyó a 279 pacientes con diagnóstico clínico de IC dados de alta de un hospital terciario entre febrero de 2001 y junio de 2002. Se excluyó a los pacientes con demencias, enfermedad terminal no cardiológica o enfermedad pulmonar obstructiva crónica. La información recogida incluyó las causas de la descompensación. La intervención fue fundamentalmente de tipo educativo, en el domicilio del participante, y se extendió hasta 15 días después del alta. Se realizaron ajustes de tratamiento durante la primera semana cuando fue necesario. El objetivo principal fue determinar la incidencia acumulada de reingreso o muerte. Los objetivos secundarios fueron la incidencia de reingreso y la mortalidad, así como la utilización de los servicios de urgencia. Se llevó a cabo un seguimiento telefónico a los 3, 6 y 12 meses, y una revisión de las historias clínicas si era necesario. Asimismo, se valoró la utilización de servicios de urgencias los primeros 6 meses. Resultados. Al año, 62 pacientes de 137 (45,3%) ingresaron o murieron en el grupo de intervención, en comparación con 75 de 142 (52,8%) en el grupo control (p = 0,232; riesgo relativo [RR] = 0,86). En los pacientes que se descompensaron por incumplimiento terapéutico, 16 de 45 (35,6%) ingresaron o murieron en el grupo de intervención, en comparación con 34 de 56 (60,7%) en el grupo control (p = 0,016; RR = 0,59). Conclusiones. Esta intervención es factible pero, administrada de manera indiscriminada a todo paciente dado de alta por IC, en el mejor de los casos sólo podemos esperar un beneficio modesto, que en este estudio en particular no llegó a alcanzar significación estadística (AU)


Introduction and objectives. To determine the effectiveness of a primarily educational intervention in heart failure (HF) patients implemented in a home care unit. Methods. This randomized controlled clinical trial involved 279 HF patients who were discharged from a tertiary-care hospital between February 2001 and June 2002. Patients with dementia, terminal non-cardiac disease, or chronic obstructive pulmonary disease were excluded. Data collected included the cause of cardiac decompensation. A primarily educational intervention was implemented in the patient's home for up to 15 days after hospital discharge. Treatment was adjusted during the first week if necessary. The primary outcome measure was the 1-year cumulative incidence of readmission or death. Secondary measures were the incidence of readmission, mortality, and emergency department admission. Telephone interviews were carried out 3, 6 and 12 months after discharge, and clinical records were updated when necessary. Emergency department admission in the first 6 months was monitored. Results. At 1-year follow-up, 62 of the 137 patients (45.3%) in the intervention group had been readmitted or died, compared with 75 of the 142 (52.8%) in the control group, (relative risk=0.86, P=.232). Among patients who suffered decompensation because failure to adhere to treatment, 16 of the 45 (35.6%) in the intervention group were readmitted or died, compared with 34 of the 56 (60.7%) control group patients (relative risk=0.59, P=.016). Conclusions. This intervention is feasible but, when applied indiscriminately to every discharged heart failure patient, the best that can be expected is only a modest reduction in readmission and death rates, which, in this study in particular, did not achieve statistical significance (AU)


Asunto(s)
Humanos , Evaluación de Resultados de Intervenciones Terapéuticas/métodos , Servicios de Atención a Domicilio Provisto por Hospital/organización & administración , Insuficiencia Cardíaca/terapia , Alta del Paciente/estadística & datos numéricos , Cuidados a Largo Plazo/métodos , Cooperación del Paciente/estadística & datos numéricos , Ensayos Clínicos Controlados Aleatorios como Asunto
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