Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia

摘要: Background and objectives: Defects in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a highly atherogenic condition. The effect of different LDLR mutations on coronary heart disease (CHD) risk is insufficiently defined. We assessed carotid intima-media thickness (IMT), surrogate marker CHD, relation to mutational class FH. Methods: In 436 Spanish FH patients (223 men 213 women, age 44 ± 14 years) with known mutations, alleles were classified by standard criteria as null (n = 269), defective 162), or undetermined 5). defects detected using microarray (Lipochip ® ) designed uncover prevalent Spain sequencing when no detected. Carotid IMT plaque 268 healthy subjects. Results: All measurements increased versus controls (p < 0.05), irrespective genotype. After adjustment for gender age, compared had similar mean maximum common artery (CCA) IMT, but higher at any segment, median values (95% confidence interval) 1.25 mm (1.19–1.31) 1.11 (1.05–1.18), respectively. Multivariate analysis showed that independently associated CCA-IMT (ˇ 0.09, p 0.033) an impact 0.10, 0.035). Conclusions: show advanced atherosclerosis class. findings support utility genetic testing beyond providing secure diagnosis.