Chenodeoxycholic acid

How it works

By replacing the deficient bile acid it restores feedback inhibition of cholesterol 7-alpha-hydroxylase, reducing the abnormal production and accumulation of cholestanol and bile alcohols that characterise the disorder.

Prescribing in practice

• Liver function must be monitored because bile acids can cause hepatotoxicity, and treatment should be reviewed if there is evidence of significant liver injury.
• It is a treatment for the rare metabolic disorder cerebrotendinous xanthomatosis and should be initiated and supervised by specialists experienced in its management.
• Concurrent bile-acid sequestrants and certain aluminium-containing antacids can bind bile acid and reduce its effect, so dosing should be separated.

Monitoring

Monitor liver function regularly during treatment, together with relevant biochemical markers of the underlying metabolic disorder.

Counselling the patient

• This is long-term replacement therapy for a rare inherited condition; take it consistently.
• Attend for the blood tests used to check your liver and treatment response.
• Separate it from any cholesterol-binding or antacid medicines you take.

Evidence & guidelines

Bile acid replacement is the established treatment for cerebrotendinous xanthomatosis, supported by long-term observational data showing biochemical and clinical improvement.