title: Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis.
abstract: The concentrations of serum cholesterol, cholestanol and non-cholesterol sterols were measured in a patient with cerebrotendinous xanthomatosis under different therapeutic regimens. During treatment with chenodeoxycholic acid (CDCA) (750 mg/day) plus simvastatin (20 mg/day) for two years cholesterol and cholestanol concentrations averaged 188+/-10 mg/dl and 0.54+/-0.03 mg/dl. Thereafter treatment with simvastatin was discontinued. During treatment with low-density lipoprotein (LDL)-apheresis plus CDCA for 33 weeks, cholestanol concentrations reached almost normal levels (0.48+/-0.03 mg/dl immediately before and 0.32+/-0.02 mg/dl directly after LDL-apheresis, n=6). A further reduction of cholesterol and cholestanol was achieved by addition of simvastatin (20 mg/day). Cholesterol and cholestanol concentrations before and after LDL-apheresis during this treatment period averaged 122+/-4 mg/dl and 55+/-10 mg/dl, and 0.42+/-0.02 mg/dl and 0.18+/-0.06 mg/dl, respectively. Despite the consistent reduction of cholestanol to normal or even subnormal levels, a definite improvement of clinical symptoms was not noted. Our results suggest caution in the recourse to an aggressive cholestanol lowering therapy.
authors.affiliation: Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: D
authors.initials: D
authors.lastname: Lütjohann
authors.forename: K
authors.initials: K
authors.lastname: von Bergmann
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D001781:Blood Component Removal / Q000379:methods*; D002635:Chenodeoxycholic Acid / Q000008:administration & dosage*; D004083:Cholestanol / Q000097:blood*; D002784:Cholesterol / Q000097:blood; D004359:Drug Therapy, Combination; D005765:Gastrointestinal Agents / Q000008:administration & dosage; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000008:administration & dosage; D008077:Lipoproteins, LDL / Q000097:blood* / Q000502:physiology; D008297:Male; D008875:Middle Aged; D012016:Reference Values; D019821:Simvastatin / Q000008:administration & dosage*; D016896:Treatment Outcome; D019294:Xanthomatosis, Cerebrotendinous / Q000097:blood / Q000503:physiopathology / Q000628:therapy*
chemical_list: D005765:Gastrointestinal Agents; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D008077:Lipoproteins, LDL; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D002784:Cholesterol; D019821:Simvastatin