Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
| Autor: | Margaret R. Diffenderfer, Suman Jayadev, Joseph F. Quinn, Gerald Salen, Patamaporn Lekprasert, Paul Ziajka, Ernst J. Schaefer, Sonja L. Connor, Ritesh A. Ramdhani, Kimmy G. Su, Mary J. Malloy, P. Barton Duell, Yasushi Kisanuki, Lise Casaday, Andrea E. DeBarber, Andrew S. Geller, Florian Eichler |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty medicine.drug_class Endocrinology Diabetes and Metabolism Disease Cerebrotendinous Xanthomatosis Young Adult 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Cataracts Chenodeoxycholic acid Internal Medicine medicine Humans Child Nutrition and Dietetics Bile acid business.industry Cholestanol Xanthomatosis Cerebrotendinous Middle Aged medicine.disease Treatment Outcome 030104 developmental biology chemistry Diagnosis treatment High plasma Female Cardiology and Cardiovascular Medicine business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Clinical Lipidology. 12:1169-1178 |
| ISSN: | 1933-2874 |
| Popis: | 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 (normal5.0 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 of5.0 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 despite long-term efficacy and safety data.Health care providers seeing young patients with tendon xanthomas and relatively normal cholesterol levels, especially those with cataracts and learning problems, should consider the diagnosis of CTX so they can receive treatment. CDCA should receive regulatory approval to facilitate therapy for the prevention of the complications of the disease. |
| Databáze: | OpenAIRE |
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