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)

SUBMITTER: Brass EP 

PROVIDER: S-EPMC7653248 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature