title: Homozygous hypercholesterolaemia and ezetimibe: a case report.
abstract: A girl of Indian origin presented with unusual nodules on her hands, and total cholesterol was found to be > 25 mmol/L. The girl had "mild" P664L mutation and total cholesterol levels fell by 38% when she was on a diet and statin therapy. A further reduction of 26% in total cholesterol and 37% in low-density lipoprotein (LDL) was achieved by adding ezetimibe to the treatment.
  
  
  CONCLUSIONS
  A case of homozygous hypercholesterolaemia is reported in order to highlight treatment options such as liver transplantation, LDL-aphaeresis and treatment with ezetimibe.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK. chris.hendriksz@cmmc.nhs.uk
authors.forename: C J
authors.initials: CJ
authors.lastname: Hendriksz
authors.forename: G
authors.initials: G
authors.lastname: Norbury
authors.forename: S
authors.initials: S
authors.lastname: Tabrah
authors.forename: A
authors.initials: A
authors.lastname: Taylor
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
mesh_terms: D000924:Anticholesteremic Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D001384:Azetidines / Q000008:administration & dosage / Q000627:therapeutic use*; D002648:Child; D008078:Cholesterol, LDL / Q000097:blood; D000069438:Ezetimibe; D005260:Female; D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000188:drug therapy* / Q000235:genetics*; D026502:LDL-Receptor Related Proteins; D017354:Point Mutation / Q000235:genetics; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D008078:Cholesterol, LDL; D026502:LDL-Receptor Related Proteins; C116415:Lrp4 protein, mouse; D011973:Receptors, LDL; D000069438:Ezetimibe