Editorial Expression of LDLRs (Low-Density Lipoprotein Receptors), Dyslipidemia Severity, and Response to PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Inhibition in Homozygous Familial Hypercholesterolemia Connecting the Dots Raul D. Santos omozygous familial hypercholesterolemia (HoFH) is LDL-C in HoFH, it is uncertain whether this is affected by 4–7 Hcharacterized by extremely elevated low-density lipo- LDLR expression. In theory, LDLR expression and func- protein cholesterol (LDL-C) levels (usually 4–5-fold normal) tion should not influence LDL-C lowering by mipomersen and appearance of xanthomas, aggressive atherosclerotic car- (an apoB synthesis inhibitor) or lomitapide (a microsomal diovascular as well as aortic and supra-aortic valve diseases, triglyceride transfer protein inhibitor) that reduce production before the age of 20 years. The severity of the HoFH phe- of LDL precursors (Figure), and this seems to be the case from notype and its ominous consequences correlate with LDL-C small numbers of patients in clinical trials treated with these levels. The latter are influenced primarily by the type of famil- newer agents. ial hypercholesterolemia (FH)-causing molecular defect. The Monoclonal antibodies against PCSK9, like alirocumab gravest phenotypes result from homozygous or compound and evolocumab, reduce PCSK9-mediated LDLR degrada- heterozygous mutations in the LDLR gene (low-density lipo- tion and consequently lower
Arteriosclerosis, Thrombosis, and Vascular Biology – Wolters Kluwer Health
Published: Mar 1, 2018
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