The level of PCSK9 in patients with familial hypercholesterolemia
Keywords:
PCSK9, familial hypercholesterolemiaAbstract
Aim: Proprotein convertase subtilisin kexin type 9 (PCSK9) is a key regulator of lipids metabolism by its ability to facilitate the degradation of LDL receptor (LDLR). Familial hypercholesterolemia (FH) is an autosomal codominant inherited disorder caused in most cases a mutation in the gene coding for the LDLR and characterized by very high plasma concentrations of low density lipoprotein cholesterol (LDLc). We studied the levels of PCSK9 and its correlation with the lipids, C neactive protein, homocysteine and fibrinogen in untreated FH patients and their first degree and second degree relatives without FH. Materials and Methods: We compared the PCSK9 levels in 60 FH patients (59 patients with heterozygous form FH, one patient with homozygous form FH) and 29 healthy relatives of 1 and 2I degree relatives, without FH. All patients with FH did not take lipid owering therapy 3 months or more. The level of PCSK9 in plasma were determined by ELISA. Data are presented as median (25 - 75 percent). Results: We show that the PCSK9 level was significantly higher in FH patients 258,77 (221,67 299,17) ng / ml compared to their healthy relatives 193.83 (166,44 220,29) ng/ml (p <0.001) and that it correlated with age (r = 0.22, p = 0.049), total cholesterol (r = 0.55, p <0,001), LDLR (r = 0.51, p <0.001), triglycerides ( r = 0.3, p = 0.006) and fibrinogen (r = 0,3, p = 0,01). Conclusion: PCSK9 new, potentially promising plasma marker that reflects the degree of lipid metabolism in FH patients