Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors

Abstract

Key Clinical Message Recent data reveal phenotypic HoFH patients may be responsive to PCSK9 inhibitors, challenging prior assumptions. Genetic testing advancements now more accurately forecast patient responses to these therapies, improving treatment strategies.

Keywords

• genetic testing
• homozygous familial hypercholesterolemia
• pediatric familial hypercholesterolemia
• proprotein convertase subtilisin/kexin type 9 inhibitors