Homozygous hypercholesterolaemia and ezetimibe: a case report.
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.
Hendriksz
C J
CJ
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK. chris.hendriksz@cmmc.nhs.uk
Norbury
G
G
Tabrah
S
S
Taylor
A
A
Humphries
S E
SE
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*
D000924:Anticholesteremic Agents; D001384:Azetidines; D008078:Cholesterol, LDL; D026502:LDL-Receptor Related Proteins; C116415:Lrp4 protein, mouse; D011973:Receptors, LDL; D000069438:Ezetimibe