Abstract

Introduction Familial hypercholesterolemia (FH) is characterized by exposure to severely elevated LDL-cholesterol from birth, which produces lipid deposits, which can be measured by means of intima-media thickness (IMT). Subjects and methods The IMT and concentrations of cholesterol and its fractions, triglycerides, alipoproteins Apo-A1, Apo-B and endothelial risk factors (homocysteine and high sensitivity protein C ) were determined in 89 patients (44 males) from 2 to 19 years (9.54±3.91 years). IMT was measured by ultrasound using a 12 MHz linear array transducer in both carotids to 1 cm of the bulb. The IMT mean was compared with age, sex and analytical parameters using multiple regression analysis. Results The mean values were: IMT 0.334±0.088 mm, total cholesterol 273.62±91.93 mg/dl, LDL-cholesterol 204.21±86.16 mg/dl, LDL/HDL 3.83±1.45, apoprotein A1 134.61±26.49 mg/dl, apoprotein B 130.59±40.59 mg/dl, homocysteine (median) 7.16 mmol/dl, Protein C (median) 0.3 mg/l. Using multiple regression analysis, only age was associated with IMT ( P=0.049), a mean 0.005 mm (95% CI: 0.000–0.010) being the annual increase: up to 12 years the increase in IMT was 0.002 mm/year on (95% CI: −0.007–0,010) and then from that age it was 0.013 mm/year (95% CI: −0.023–0.049). Conclusions The measurement of the carotid IMT could become an objective parameter in the evaluation of the FH in childhood. In our study, it is only associated with age, the increase being most marked from 12 years onwards.

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