Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with Familial Hypercholesterolemia: a single center real-world study

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 PCSK9-I therapy.

Source: Nutrition, Metabolism, and Cardiovascular Diseases : NMCD - November 10, 2021 Category: Nutrition Authors: Gabriella Iannuzzo, Alessio Buonaiuto, Ilenia Calcaterra, Marco Gentile, Francesco Forte, Maria Tripaldella, Maria Donata Di Taranto, Carola Giacobbe, Giuliana Fortunato, Paolo Osvaldo Rubba, Matteo Nicola Dario Di Minno Source Type: research