Abstract | BACKGROUND: 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.
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Authors | Eric P Brass, Bianca M L Stelten, Aad Verrips |
Journal | JIMD reports
(JIMD Rep)
Vol. 56
Issue 1
Pg. 105-111
(Nov 2020)
ISSN: 2192-8304 [Print] United States |
PMID | 33204601
(Publication Type: Journal Article)
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Copyright | © 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. |