Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia.
A boy with a total plasma cholesterol concentration of 20.9 mmol/l which fell significantly with a low fat diet, cholestyramine and simvastatin, was shown to have two different mutations in the low density lipoprotein receptor gene, demonstrating that some patients with homozygous familial hypercholesterolaemia show a good lipid lowering response to treatment.
Department of Medicine, Rayne Institute, University College of London Medical School.
V
V
Gudnason
D P
DP
Muller
J K
JK
Lloyd
S E
SE
Humphries
D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D002792:Cholestyramine Resin / Q000627:therapeutic use; D003131:Combined Modality Therapy; D018752:Diet, Fat-Restricted; D004041:Dietary Fats / Q000008:administration & dosage; D004359:Drug Therapy, Combination; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000628:therapy*; D008148:Lovastatin / Q000031:analogs & derivatives / Q000627:therapeutic use; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics; D019821:Simvastatin
D004041:Dietary Fats; D011973:Receptors, LDL; D002792:Cholestyramine Resin; D008148:Lovastatin; D019821:Simvastatin