What is the role of medications in the treatment of cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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The treatment of choice in cerebrotendinous xanthomatosis (CTX) is chenodeoxycholic acid (CDCA) replacement therapy. CDCA should be considered the mainstay of therapy. If hypercholesterolemia is not controlled with CDCA treatment alone, 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase inhibitors may be added. HMG-CoA reductase inhibitors (ie, statins) have well-established efficacy and safety in patients with hypercholesterolemia and have also been used alone and in combination with CDCA to treat cerebrotendinous xanthomatosis.

Dotti et al examined treatment with CDCA, simvastatin, and low-density lipoprotein apheresis in several combinations. [74] Although the established treatments performed well, low-density lipoprotein apheresis was not associated with a clinical benefit and possibly put the patient at risk for treatment complications.

Other medical treatment modalities typically used in the treatment of disorders of bile and cholesterol metabolism, specifically hydrophilic 7 beta-hydroxy bile acids and cholestyramine, have been ineffective. [75]

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