Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDH 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.