title: A case of autosomal recessive hypercholesterolemia responsive to proprotein convertase subtilisin/kexin 9 inhibition.
abstract: We report the first case of hypercholesterolemia due to autosomal recessive hyperlipidemia caused by LDLRAP1 mutation responding favorably to PCSK9 inhibition.
authors.affiliation: Department of Cardiology, Mercy University Hospital, Cork, Ireland. Electronic address: eoinfahy84@gmail.com.
authors.forename: Eoin Francis
authors.initials: EF
authors.lastname: Fahy
authors.affiliation: Department of Cardiology, Mercy University Hospital, Cork, Ireland.
authors.forename: Elaine
authors.initials: E
authors.lastname: McCarthy
authors.affiliation: Department of Internal Medicine, Lipid Clinic and Lipid Apheresis, Charité-Universitätsmedizin, Berlin, Germany.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Steinhagen-Thiessen
authors.affiliation: Department of Cardiology, Mercy University Hospital, Cork, Ireland.
authors.forename: Carl J
authors.initials: CJ
authors.lastname: Vaughan
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D004791:Enzyme Inhibitors / Q000494:pharmacology* / Q000627:therapeutic use; D005260:Female; D006801:Humans; D006937:Hypercholesterolemia / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D000091362:PCSK9 Inhibitors; D016896:Treatment Outcome; D000071449:Proprotein Convertase 9
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004791:Enzyme Inhibitors; D000091362:PCSK9 Inhibitors; C469745:LDLRAP1 protein, human; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9
keywords: ARH; Autosomal recessive hypercholesterolemia; Evolocumab; LDLRAP1; PCSK9; PCSK9 inhibitors