RESUMEN
Therapeutic intervention should be determined by the risk of developing atheromatous cardiovascular disease (CVD). The higher the risk, the more intense the action should be. This is the reason for the stratification of patient risk. In primary prevention, the two main guidelines used, the American Heart Association and the American College of Cardiology (ACC/AHA) use the Pooled cohort equations (PCE) and the guidelines of the European societies use the SCORE tables. The PCE calculates the risk of fatal and non-fatal CVD, and the SCORE calculates risk of fatal CVD only. In young people, it is useful to consider the lifetime risk calculation. The Spanish Society of Arteriosclerosis (SEA) recommends the SCORE system in Spain. SCORE and PCE calculate the risk for people up to 70 and 75 years of age. Prediction and potentials are available for 80 years of age and above, with the data available being much more scarce. Risk stratification in secondary prevention may be useful to identify the subgroup of patients who may benefit from more intensive treatment. Imaging tests, especially coronary calcium scans and vascular ultrasound, can help to better the profile risk. European guidelines identify LDL cholesterol as a therapeutic target. They recommend initiating treatment with statins, and increasing dose and potency until targets are achieved, and then to treatment with potent statins at a maximum tolerated dose, and ezetimibe if targets are not achieved. As a third step, PCSK9 inhibitors are indicated. They set very ambitious targets, as low as 40 mg/dL in those subjects with recurrences before two years of CVD despite high-intensity statin therapy, and below 55 mg/dL for all very high-risk subjects.
Asunto(s)
Enfermedades Cardiovasculares/prevención & control , Guías de Práctica Clínica como Asunto , Anciano , Anciano de 80 o más Años , Anticolesterolemiantes/farmacología , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , LDL-Colesterol/sangre , Factores de Riesgo de Enfermedad Cardiaca , Humanos , Prevención Primaria/métodos , Prevención Secundaria/métodosRESUMEN
El síndrome metabólico (SM) y la hiperlipidemia familiar combinada (HLFC) comparten una parte importante de sus rasgos clínicos, y se ha postulado para ambos una etiología parcialmente coincidente. Se considera que su expresión está afectada por múltiples loci genéticos, existiendo adicionalmente interacción genambiente. En este trabajo se explora la posible implicación en el desarrollo de SM de USF1, un gen previamente asociado con HLFC. Métodos Se desarrolló un estudio caso-control en el que se analizó la variabilidad genética en USF1 mediante genotipado por pirosecuenciación de los SNP rs2516837, rs2516838, rs6686076, rs2516839, rs2073653, rs2774276, rs2073656, rs2073658 y rs3737787. Se estudiaron 192 sujetos con SM según los criterios ATPIII y 197 sujetos control. Se analizaron las frecuencias alélicas y genotípicas y se estimaron los haplotipos compuestos por los citados polimorfismos. Se analizó estadísticamente la asociación de SNP aislados y haplotipos estimados con el desarrollo de SM. Resultados Las frecuencias de los 9 SNP estudiados mostraron que se encontraban en equilibrio de Hardy-Weinberg tanto en casos como en controles. Se apreció un importante grado de desequilibrio de unión entre ellos, pero las diferencias en su distribución entre casos y controles no alcanzaron significación estadística. La estimación de haplotipos de los SNP analizados en los grupos estudiados detectó 6 haplotipos principales, pero ninguno de ellos mostró una asociación estadísticamente significativa con la condición de SM. Conclusiones En la muestra de pacientes estudiados no se ha observado una asociación de la variabilidad genética en el locus USF1 con el desarrollo de SM definido según los criterios ATPIII (AU)
Introduction: Metabolic syndrome (MS) and familial combined hyperlipidemia (FCHL) sharemany clinical features and a partially overlapping etiology for these two entities has been postulated. The expression of these disorders may be affected by multiple genetic loci in additionto gene-environment interaction. This study explored the possible involvement of the USF1gene, which has previously been associated with FCHL, in the development of MS. Methods: A case-control study was performed to analyze genetic variation in USF1 defined bySNPs rs2516837, rs2516838, rs6686076, rs2516839, rs2073653, rs2774276, rs2073656, rs2073658,and rs3737787. SNP genotypes were determined by pyrosequencing in 192 subjects with MS according to the Adult Treatment Panel (ATP)-III criteria and 197 control subjects. Allelic andgenotypic frequencies were analyzed for each SNP isolated, and haplotypes were estimated for the combined polymorphisms. A statistical analysis was performed of the association of the SNPs and haplotypes with the development of MS. Results: The frequencies of the nine SNPs studied showed that they were in (..) (AU)
