Article
Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study.
Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 Mar 2022
Iannuzzo Gabriella, Buonaiuto Alessio, Calcaterra Ilenia, Gentile Marco, Forte Francesco, Tripaldella Maria, Di Taranto Maria D, Giacobbe Carola, Fortunato Giuliana, Rubba Paolo O, Di Minno Matteo N Dario
Abstract excerpt
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease that leads to cardiovascular (CV) disease. Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9-I) demonstrated efficacy in low-density lipoprotein cholesterol (LDL-C) reduction and in prevention of CV events. The aim of our study is to evaluate the relationship between LDL receptor (LDLR) mutations and response to...
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