Background: Familial hypercholesterolemia (FH) is an inherited disorder characterized by extremely high cholesterol level, accelerated atherosclerosis and premature cardiovascular disease.We need an early risk stratification method for this population. Arisk score formula to estimate the probability of advanced atherosclerosis using coronary heart
disease risk factors was developed for persons 15-34 years of age by the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study. This study’s aim was to investigate the relation between PDAY risk score
and carotid intima-media thickness (IMT) and inflammation markers in asymptomatic young FH subjects.
Methods: We included 23 heterozygous FH patients (mean age 27) and 22 healthy control subjects (mean age 33). We computed the PDAY risk scores and measured the high-sensitive C-reactive protein (hsCRP) and carotid IMT.
Results: In FH subjects, univariate analysis showed PDAY risk score was significant correlated with hsCRP and carotid IMT. Comparing FH subjects with the presence of carotid atheroma plaque (IMT > 1 mm) or without the
plaque (IMT< 1 mm), we found significantly higher PDAY risk score and hsCRP value in the presence group. By receiver operating characteristic curve, both hsCRP and PDAY risk score could predict the presence of carotid plaque. The multivariate analysis showed the correlation between PDAY risk score and carotid plaque (odds ratio for a 1-unit increase in the risk score was 1.161, 95% confidence interval: 1.027-1.312, p = 0.017).
Conclusion: In young heterozygous FH subjects, PDAY risk score is strongly correlated with carotid IMT, and it might be a simple and useful tool for cardiovascular disease risk stratification in this population.