title: Management of a patient with a null low-density lipoprotein receptor mutation: a case report.
abstract: A 13-year-old Greek boy with severe dyslipidemia, large tuberous xanthomas over the knees and elbows, Achilles' tendon xanthomas, and a bilateral corneal arcus was referred to the Lipid Clinic. He had a supravalvular aortic stenosis, 50% to 60% stenosis of both carotid arteries, and normal coronary arteries. Familial hypercholesterolemia was clinically diagnosed. A V408M null low-density lipoprotein receptor (LDLR) mutation was identified in homozygosity. He responded to lipid-lowering drugs by decreasing total cholesterol by 32%, low-density lipoprotein cholesterol by 33%, and triglyceride levels by 30%. Additional treatment with low-density lipoprotein-apheresis further decreased total cholesterol by 52%, low-density lipoprotein cholesterol by 55%, and triglycerides by 43%. Low-density lipoprotein cholesterol levels between apheresis sessions showed a declining pattern. A significant regression of tuberous xanthomas was noted. A suitable combination of lipid-lowering drugs is effective even in this case of homozygosity for a null LDLR mutation. Furthermore, the coadministration of statins, cholestyramine, and ezetimibe during low-density lipoprotein-apheresis tends to counterbalance the postapheresis relapse in low-density lipoprotein cholesterol levels.
authors.affiliation: 1st Cardiology Department, Onassis Cardiac Surgery Center, Athens, Greece. genkolovou@mail.gr
authors.forename: Genovefa D
authors.initials: GD
authors.lastname: Kolovou
authors.forename: George V Z
authors.initials: GV
authors.lastname: Dedoussis
authors.forename: Katherine K
authors.initials: KK
authors.lastname: Anagnostopoulou
authors.forename: George Ch
authors.initials: GCh
authors.lastname: Hatzigeorgiou
authors.forename: Klelia D
authors.initials: KD
authors.lastname: Salpea
authors.forename: Despoina M
authors.initials: DM
authors.lastname: Choumerianou
authors.forename: Spyridon
authors.initials: S
authors.lastname: Rammos
authors.forename: Dimitri P
authors.initials: DP
authors.lastname: Mikhailidis
authors.forename: Dennis V
authors.initials: DV
authors.lastname: Cokkinos
mesh_terms: D000293:Adolescent; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001384:Azetidines / Q000627:therapeutic use; D001781:Blood Component Removal; D002784:Cholesterol / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D002792:Cholestyramine Resin / Q000627:therapeutic use; D000069438:Ezetimibe; D006720:Homozygote; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006937:Hypercholesterolemia / Q000188:drug therapy* / Q000235:genetics; D000960:Hypolipidemic Agents / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics*; D014280:Triglycerides / Q000097:blood
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D000960:Hypolipidemic Agents; D011973:Receptors, LDL; D014280:Triglycerides; D002792:Cholestyramine Resin; D002784:Cholesterol; D000069438:Ezetimibe