Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab.

doi:10.1161/ATVBAHA.117.310217

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Article

Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab.

Arteriosclerosis, thrombosis, and vascular biology - 1 Mar 2018

Thedrez Aurélie, Blom Dirk J, Ramin-Mangata Stéphane, Blanchard Valentin, Croyal Mikaël, Chemello Kévin, Nativel Brice, Pichelin Matthieu, Cariou Bertrand, Bourane Steeve, Tang Lihua, Farnier Michel, Raal Frederick J, Lambert Gilles

Abstract excerpt

OBJECTIVE: Evolocumab, a PCSK9 (proprotein convertase subtilisin kexin type 9)-neutralizing antibody, lowers low-density lipoprotein cholesterol (LDL-C) in homozygous familial hypercholesterolemic (HoFH) patients with reduced LDLR (low-density lipoprotein receptor) function. However, their individual responses are highly variable, even among carriers of identical LDLR genetic defects. We aimed to elucidate why...

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PMID: 29284604
DOI: 10.1161/ATVBAHA.117.310217
PMCID: PMC5823753

Genes

LDLR
PCSK9

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