Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study

Gabriella Iannuzzo, Alessio Buonaiuto,Ilenia Calcaterra, Marco Gentile,Francesco Forte, Maria Tripaldella,Maria D. Di Taranto, Carola Giacobbe,Giuliana Fortunato, Paolo O. Rubba,Matteo N. Dario Di Minno

Nutrition, Metabolism and Cardiovascular Diseases(2022)

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摘要
•After 36 weeks there were no differences in response to PCSK9-I therapy between FH subgroups according to genotype.•Response to PCSK9-I was significantly lower in carriers of compound-He/Ho mutations.•Target achievement rate still represents an issue in FH patients despite high efficacy of available lipid lowering therapy.
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关键词
Familial hypercholesterolemia,Proprotein convertase subtilisin/kexin type 9 inhibitors,Low-density lipoprotein cholesterol,Low-density lipoprotein receptor gene
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