Table 6.

Cerebrotendinous Xanthomatosis: Targeted Therapy

Manifestation/ConcernTreatmentConsiderations/Other
↑ cholestanol assoc w/neurologic issues & osteoporosis
  • Long-term treatment w/CDCA 1: 750 mg/day in adults; 10-20 mg/kg/day in children
  • Should be started early as effect of therapy depends largely on extent of irreversible structural damage to axons
  • Normalizes plasma & CSF concentration of cholestanol by suppressing cholestanol biosynthesis
  • Improves neurophysiologic findings (normalization of NCVs & stabilization; slow & continuous improvement of MEPs & SEPs)
  • Also improves osteoporosis
  • See Table 7 for alternative/combination treatments.

CDCA = chenodeoxycholic acid; CSF = cerebrospinal fluid; MEP = motor evoked potential; NCV = nerve conduction velocity, SEP = sensory evoked potential

1.

Verrips et al [2020] highlighted the efficacy and safety of therapeutic treatment with CDCA through two retrospective studies.

From: Cerebrotendinous Xanthomatosis

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