Abstract

Introduction. Familial hypercholesterolemia is a congenital disorder of lipid metabolism. The Dutch Lipid Clinic Network score is used for early diagnosis of familial hypercholesterolemia. The aim of the study was to examine correlation between the above score and the first measured lipid values in patients who had not used lipid-lowering therapy. Material and Methods. 390 patients identified as familial hypercholesterolemia+ (n=247) and familial hypercholesterolemia-(n=143) according to the Dutch Lipid Clinic Network score. Family and personal history, physical examination, demographic and anthropometric characteristics and lipid status were analyzed. Results. The familial hypercholesterolemia+group had all Dutch Lipid Clinic Network score components significantly higher than the familial hyper?cholesterolemia-group. The highest average number of points in familial hypercholesterolemia+ group carries low-density lipoprotein level and family history data. Significantly higher levels of total cholesterol, low-density lipoprotein and apolipoprotein B were found in the familial hypercholesterolemia+ group, while high-density lipo?protein was lower in the familial hypercholesterolemia-group. The Dutch Lipid Clinic Network score correlates best with level of low-density lipoprotein and apolipoprotein B (p<0.001). The cut-off point for low-density lipoprotein is 4.9 mmol/L (sensitivity 56%; specificity 8%), while the cut-off point for apolipoprotein B is 1.52 g/L (sensitivity 42%; specificity 12.5%) for diagnosis of familial hypercholesterolemia. Conclusion. Low-density lipoprotein and apolipoprotein B values significantly correlate with Dutch Lipid Clinic Network score values. Elevated values of low-density lipoprotein (>4.9 mmol/L) significantly affect the total value of the Dutch Lipid Clinic Network score and are considered components that carry large number of points for the diagnosis of familial hypercholesterolemia.

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