title: Liver transplantation for the treatment of homozygous familial hypercholesterolaemia in an era of emerging lipid-lowering therapies.
abstract: Homozygous familial hypercholesterolaemia (FH) causes severe premature coronary artery disease because of very high levels of low density lipoprotein (LDL)-cholesterol. Standard lipid-lowering drugs and LDL-apheresis may not be sufficiently effective. Liver transplantation replaces defective LDL receptors and vastly improves the lipid profile, and we present the first report of an Australian adult to receive this treatment. Emerging drug treatments for FH may be alternatives to LDL-apheresis and transplantation, but long-term safety and efficacy data are lacking for all of these options.
authors.affiliation: Lipid Disorders Clinic, Royal Perth Hospital, Perth, Western Australia, Australia.
authors.forename: M M
authors.initials: MM
authors.lastname: Page
authors.forename: E I
authors.initials: EI
authors.lastname: Ekinci
authors.forename: R M
authors.initials: RM
authors.lastname: Jones
authors.forename: P W
authors.initials: PW
authors.lastname: Angus
authors.forename: P J
authors.initials: PJ
authors.lastname: Gow
authors.forename: R C
authors.initials: RC
authors.lastname: O'Brien
mesh_terms: D000328:Adult; D000069059:Atorvastatin; D001384:Azetidines / Q000008:administration & dosage / Q000627:therapeutic use; D001781:Blood Component Removal; D008078:Cholesterol, LDL / Q000097:blood; D003131:Combined Modality Therapy; D003241:Consanguinity; D001026:Coronary Artery Bypass; D003327:Coronary Disease / Q000235:genetics / Q000601:surgery; D004359:Drug Therapy, Combination; D000069438:Ezetimibe; D011345:Fenofibrate / Q000008:administration & dosage / Q000627:therapeutic use; D006349:Heart Valve Diseases / Q000235:genetics / Q000601:surgery; D019918:Heart Valve Prosthesis Implantation; D006538:Heptanoic Acids / Q000008:administration & dosage / Q000627:therapeutic use; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000178:diet therapy / Q000188:drug therapy* / Q000601:surgery* / Q000628:therapy; D000960:Hypolipidemic Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D008077:Lipoproteins, LDL / Q000097:blood; D016031:Liver Transplantation; D008297:Male; D011758:Pyrroles / Q000008:administration & dosage / Q000627:therapeutic use; D011973:Receptors, LDL / Q000172:deficiency / Q000235:genetics
chemical_list: D001384:Azetidines; D008078:Cholesterol, LDL; D006538:Heptanoic Acids; D000960:Hypolipidemic Agents; D008077:Lipoproteins, LDL; D011758:Pyrroles; D011973:Receptors, LDL; D000069059:Atorvastatin; D000069438:Ezetimibe; D011345:Fenofibrate
keywords: LDL-apheresis; familial hypercholesterolaemia; liver transplantation; lomitapide; mipomersen