Table 7.

Cerebrotendinous Xanthomatosis: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
↑ cholestanol assoc w/neurologic issues & osteoporosis Long-term treatment w/CDCA (See Targeted Therapy.)See Targeted Therapy.
Inhibitors of HMG-CoA reductase (statins such as simvastatin & pravastatin) can be used as alternative treatment alone or in combination w/CDCA.Caution required when using these drugs: may induce muscle damage or even rhabdomyolysis
  • Cholic acid treatment has been used in a few persons 1 & is assoc w/↓ of cholestanol level & improvement of neurologic symptoms.
  • Such therapy may be useful in those who experience side effects w/CDCA treatments.
Cataracts Surgical cataract extractionTypically required in at least 1 eye by age 50 yrs
Epilepsy Symptomatic treatments
Spasticity
Parkinsonism Persons w/CTX & parkinsonism are poorly responsive to levodopa.

CDCA = chenodeoxycholic acid; HMG-CoA = 3-hydroxy-3-methylglutaryl coenzyme A

1.

From: Cerebrotendinous Xanthomatosis

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