Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis

Journal of Clinical Lipidology
P Barton DuellErnst J Schaefer

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high plasma cholestanol levels. Our objective was to review the diagnosis and treatment results in 43 CTX cases. We conducted a careful review of the diagnosis, laboratory values, treatment, and clinical course in 43 CTX cases. The mean age at diagnosis was 32 years; the average follow-up was 8 years. Cases had the following conditions: 53% chronic diarrhea, 74% cognitive impairment, 70% premature cataracts, 77% tendon xanthomas, 81% neurologic disease, and 7% premature cardiovascular disease. The mean serum cholesterol concentration was 190 mg/dL; the mean plasma cholestanol level was 32 mg/L (normal <5.0 mg/L), which decreased to 6.0 mg/L (-81%) with CDCA therapy generally given as 250 mg orally 3 times daily. Of those tested on treatment, 63% achieved cholestanol levels of <5.0 mg/L; 91% had normal liver enzyme levels; none had significant liver problems after dose adjustment. Treatment improved symptoms in 57% at follow-up, but 20% with advanced disease continued to deteriorate. In the United States, CDCA has been approved for gallstone dissolution, but not for CTX desp...Continue Reading

Citations

Nov 6, 2018·Genome Biology and Evolution·Virag Sharma, Michael Hiller
Feb 6, 2019·Current Opinion in Lipidology·Ernst J SchaeferGregory Endress
May 23, 2019·Journal of Neurology·Daniele MandiaYann Nadjar
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