Cerebrotendinous xanthomatosis‐associated diarrhea and response to chenodeoxycholic acid treatment

Abstract

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.

Movement Disorders and the Gut: A Review

“…Early recognition of CTX as a syndrome is important because supplementation with chenodeoxycholic acid may alleviate, and in some cases resolve GI symptoms and stabilize neurologic symptoms. 79,80,81…”

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

“…24 Moreover, it can be the only clinical manifestation for many years. 202 While some studies describe the incidence of chronic diarrhea in 76% of cases, other reviews report a 20% (5/25). 32,202 However after checking the ethnicity of the cohort, one can see that 12/25 of patients were Asian.…”

“…202 While some studies describe the incidence of chronic diarrhea in 76% of cases, other reviews report a 20% (5/25). 32,202 However after checking the ethnicity of the cohort, one can see that 12/25 of patients were Asian. That is important in light of reports comparing the incidence of chronic diarrhea in Chinese and Caucasian populations with results of 3.8% and 92%, respectably.…”

“…35 With treatment started early, the improvement in patients can be remarkable. 35,202 Unfortunately, treatment initiated too late can bring no favorable effects. Another nine cases did not improve but symptoms were stabilized.…”

Taurochenodeoxycholic acid inhibits the proliferation and invasion of gastric cancer and induces its apoptosis

“…It has a molecular formula of C 23 (OH) 2 H 37 CONHCH 2 CH 2 SO 3 H as an acidic compound combined with taurine and chenodeoxycholic acid. Previous studies of chenodeoxycholic acid have demonstrated that TCDCA is anti‐inflammatory, antipyretic, analgesic, and bacteriostatic and can regulate immune cells (Brass et al., 2020; Fan et al., 2019; Fiorucci & Distrutti, 2019; Nakhi et al., 2019). TCDCA also can promote apoptosis of mouse peritoneal macrophages (Fukumoto et al., 2002; Zan et al., 2020).…”