Combined treatment with LDL-apheresis, chenodeoxycholic acid and HMG-CoA reductase inhibitor for cerebrotendinous xanthomatosis

J Neurol Sci. 2003 Dec 15;216(1):179-82. doi: 10.1016/j.jns.2003.07.005.

Abstract

The effects of combined treatment with low-density lipoprotein (LDL)-apheresis, chenodeoxycholic acid (CDCA) and 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase inhibitor were studied in 2 patients with cerebrotendinous xanthomatosis. Patient 1 was initially treated with LDL-apheresis alone: serum cholestanol levels decreased by 50% after each apheresis, but returned to their initial levels within 2 weeks. After an addition of CDCA administration, the serum cholestanol levels steadily decreased, resulting in slight improvement of neurological symptoms. Patient 2 received a combined treatment with LDL-apheresis, CDCA and HMG-CoA reductase inhibitor. This combination showed less LDL-apheresis-dependent fluctuation and more rapid decrease of serum cholestanol levels than those in Patient 1, resulting in improvement and stabilization of the symptoms. Our results suggest that LDL-apheresis in combination with CDCA and HMG-CoA reductase inhibitor may have beneficial effects and can be one of the treatment options.

Publication types

  • Case Reports
  • Clinical Trial

MeSH terms

  • Adult
  • Blood Component Removal*
  • Chenodeoxycholic Acid / pharmacology*
  • Cholestanol / antagonists & inhibitors
  • Cholestanol / blood*
  • Cholesterol / metabolism
  • Combined Modality Therapy
  • Drug Therapy, Combination
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / pharmacology*
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Lipoproteins, LDL / blood*
  • Lipoproteins, LDL / drug effects
  • Male
  • Treatment Outcome
  • Xanthomatosis, Cerebrotendinous / blood
  • Xanthomatosis, Cerebrotendinous / physiopathology
  • Xanthomatosis, Cerebrotendinous / therapy*

Substances

  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Lipoproteins, LDL
  • Chenodeoxycholic Acid
  • Cholestanol
  • Cholesterol