Tendon Xanthomas in Familial Hypercholesterolemia Are Associated With Cardiovascular Risk Independently of the Low-Density Lipoprotein Receptor Gene Mutation

摘要: Objective— To investigate the significance of tendon xanthomas (TX) in heterozygous subjects with familial hypercholesterolemia (hFH). Methods and Results— 951 men women genetic diagnosis hFH were studied, whom 278 (29.2%) presented TX. TX frequency increased age from 6.9% 20 to 30 years 38.3% at 51 60 years, a decrease those older than years. Total low-density lipoprotein (LDL) cholesterol higher TX+ TX− (439.0±78.5 mg/dL 363.1±76.5 versus 400.6±73.4 323.3±71.0, respectively; P =0.001). High-density (HDL) was lower (50.4±15.0 53.1±14.8 mg/dL; =0.005). Lp(a), apolipoprotein E genotype, type LDL receptor gene mutation showed no differences between groups. 102 reported premature cardiovascular disease (CVD) (36.7%) 93 (13.8%) ( The relative odds for CVD (4.49 2.26), younger 3.60 (95% CI, 1.703 7.608) 17.1 2.697 108.920) women. In multivariate analysis, age, male sex, cholesterol, hypertension significant positive association TX, whereas body mass index negative TX. Conclusions— are associated risk factors CVD, indicating that their detection indicates need more aggressive lipid-lowering intervention.