Cerebrotendinous xanthomatosis‐associated diarrhea and response to chenodeoxycholic acid treatment

BACKGROUND: In patients with cerebrotendinous xanthomatosis (CTX), chronic diarrhea is one of the earliest and main symptoms of the disease. In the current study, we evaluated the characteristics of the diarrhea and its response to chenodeoxycholic acid (CDCA) therapy in a cohort of Dutch CTX patients. METHODS: We performed a retrospective review of medical records for 33 genetically confirmed CTX patients, and abstracted the characteristics of the diarrhea and the response to CDCA therapy (15 mg/kg/day up to 750 mg/day). The Bristol Stool Scale (BSS) was used for qualitative characterization of the stool. RESULTS: Twenty‐five patients had diarrhea documented at baseline (76%). Of these patients, 10 had diarrhea rated as 6 (fluffy pieces with ragged edges, a mushy stool), and 6 had diarrhea rated as 7 (watery, no solid pieces, entirely liquid) using the BSS. In 10 patients for whom data were recorded, the median stool frequency at baseline was 3 per day (range 2‐6 per day). The response rate with CDCA for diarrhea resolution was 100% based on at least one post‐baseline visit without diarrhea and 95% as assessed at the first post‐baseline visit. In 68% of cases resolution was complete and sustained as no episodes of diarrhea were documented for follow‐up periods as long as 25 years. CONCLUSIONS: Chronic diarrhea persisting for years without spontaneous remission is a common feature of CTX at diagnosis. Chenodeoxycholic acid is an effective treatment for symptomatic relief of diarrhea in patients with CTX.