Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with a prevalence of 1/200-1/500 in the general population. The aim of the study was to assess the specific features of coronary angiography in young patients with acute coronary syndrome (ACS) and FH diagnosed using Dutch Lipid Clinic Network (I) and Simone Broome Register (II) criteria. 224 pts with early onset of ACS who underwent coronary angiography were selected (≤ 55 years of age for men and ≤ 60 years of age for women). Two, three vessel disease/left coronary artery (LCA) impairment was observed in 12 of 13 (92,3%) pts with definite/possible FH (I, p=0,036) and in 28 of 29 (96,6%) pts with probable FH (II, p=0,001). In patients with family history of cardiovascular disease three ves-sel disease or LCA impairment was observed in 54 of 73 (74%) pts (p=0,024). Comparing two groups of patients with LDL over and below 4,6 mmol/l (the concentration was obtained by ROC analysis) it was shown that 20 of 29 (69%) and 58 of 144 (40,3%) pts (p=0,036) respectively had culprit vessel thrombosis. Thus, we can suppose that in pts with higher LDL level atherosclerotic plaque rupture is observed more frequently in case of ACS. Therefore, it has been shown that multivessel and LCA stem impairment in young patients with ACS and FH is associated with both main factors used for not genetic FH diagnosis: high LDL cholesterol level and family history of cardiovascular disease.

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