Civeira Fernando, Castillo Sergio, Alonso Rodrigo, Meriño-Ibarra Erardo, Cenarro Ana, Artied Marta, Martín-Fuentes Paula, Ros Emilio, Pocoví Miguel, Mata Pedro
Laboratorio de Investigación Molecular, Hospital Universitario Miguel Servet, Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain.
Arterioscler Thromb Vasc Biol. 2005 Sep;25(9):1960-5. doi: 10.1161/01.ATV.0000177811.14176.2b. Epub 2005 Jul 14.
To investigate the significance of tendon xanthomas (TX) in heterozygous subjects with familial hypercholesterolemia (hFH).
951 men and women with genetic diagnosis of hFH were studied, of whom 278 (29.2%) presented TX. TX frequency increased with age from 6.9% in subjects 20 to 30 years to 38.3% at 51 to 60 years, with a decrease in those older than 60 years. Total and low-density lipoprotein (LDL) cholesterol were higher in TX+ than in TX- subjects (439.0+/-78.5 mg/dL and 363.1+/-76.5 mg/dL versus 400.6+/-73.4 and 323.3+/-71.0, respectively; P=0.001). High-density lipoprotein (HDL) cholesterol was lower in TX+ than in TX- subjects (50.4+/-15.0 mg/dL versus 53.1+/-14.8 mg/dL; P=0.005). Lp(a), apolipoprotein E genotype, and type of LDL receptor gene mutation showed no differences between groups. 102 TX+ reported premature cardiovascular disease (CVD) (36.7%) versus 93 TX- (13.8%) (P=0.001). The relative odds for premature CVD were higher in women (4.49 versus 2.26), and increased in hFH younger than 51 years to 3.60 (95% CI, 1.703 to 7.608) in men and to 17.1 (95% CI, 2.697 to 108.920) in women. In the multivariate analysis, age, male sex, LDL cholesterol, and hypertension showed significant positive association with TX, whereas body mass index showed negative association with TX.
TX are associated with cardiovascular risk factors and higher CVD, indicating that their detection indicates the need for more aggressive lipid-lowering intervention.
研究肌腱黄色瘤（TX）在家族性高胆固醇血症（hFH）杂合子患者中的意义。
对951名经基因诊断为hFH的男性和女性进行了研究，其中278人（29.2%）出现TX。TX的发生率随年龄增长而增加，从20至30岁患者中的6.9%增至51至60岁患者中的38.3%，60岁以上患者中则有所下降。TX阳性患者的总胆固醇和低密度脂蛋白（LDL）胆固醇水平高于TX阴性患者（分别为439.0±78.5mg/dL和363.1±76.5mg/dL，而后者分别为400.6±73.4和323.3±71.0；P=0.001）。TX阳性患者的高密度脂蛋白（HDL）胆固醇水平低于TX阴性患者（50.4±15.0mg/dL对53.1±14.8mg/dL；P=0.005）。两组间脂蛋白（a）、载脂蛋白E基因型和LDL受体基因突变类型无差异。102名TX阳性患者报告有早发性心血管疾病（CVD）（36.7%），而TX阴性患者为93人（13.8%）（P=0.001）。早发性CVD的相对比值在女性中更高（4.49对2.26），在51岁以下的hFH男性中增至3.60（95%CI，1.703至7.608），在女性中增至17.1（95%CI，2.697至108.920）。在多变量分析中，年龄、男性性别、LDL胆固醇和高血压与TX呈显著正相关，而体重指数与TX呈负相关。
TX与心血管危险因素及更高的CVD相关，表明其检测提示需要更积极的降脂干预。
