Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.
Background 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. Objectives Our objective was to review the diagnosis and treatment results in 43 CTX cases. Methods...
| Publicado en: | Journal of Clinical Lipidology Vol. 12; no. 5; pp. 1169 - 1179 |
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| Autores principales: | , , , , , , , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Elsevier B.V.
Sep2018
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=132240891&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 132240891 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 19332874 54Y0 jtl: Journal of Clinical Lipidology issn: 19332874 maglogo: N pubinfo: dt: Sep2018 vid: 12 iid: 5 pid: 467 pub: Elsevier B.V. place: New York, New York artinfo: ui: 132240891 132240891 132240891 10.1016/j.jacl.2018.06.008 132240891 ppf: 1169 ppct: 10 formats: tig: atl: Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. aug: au: Duell, P. Barton Salen, Gerald Eichler, Florian S. DeBarber, Andrea E. Connor, Sonja L. Casaday, Lise Jayadev, Suman Kisanuki, Yasushi Lekprasert, Patamaporn Malloy, Mary J. Ramdhani, Ritesh A. Ziajka, Paul E. Quinn, Joseph F. Su, Kimmy G. Geller, Andrew S. Diffenderfer, Margaret R. Schaefer, Ernst J. affil: Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR, USA sug: subj: Lipid Metabolism, Inborn Errors Diagnosis Lipid Metabolism, Inborn Errors Drug Therapy Human Treatment Outcomes Adult Diarrhea Chronic Disease Cognition Disorders Cataract Tendons Pathology Nervous System Diseases Cardiovascular Diseases Cholesterol Blood Steroids Blood Bile Acids and Salts Therapeutic Use Bile Acids and Salts Administration and Dosage Administration, Oral Adult: 19-44 years ab: Background 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. Objectives Our objective was to review the diagnosis and treatment results in 43 CTX cases. Methods We conducted a careful review of the diagnosis, laboratory values, treatment, and clinical course in 43 CTX cases. Results 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 despite long-term efficacy and safety data. Conclusions 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. Highlights • CTX should be considered in patients with premature cataracts and/or xanthomas. • The diagnosis of CTX is made by finding plasma cholestanol levels >10.0 mg/L. • Familial hypercholesterolemia and sitosterolemia can cause high cholestanol levels. • The diagnosis of CTX can be confirmed by CYP27A1 gene analysis. • The complications of CTX can be prevented by treatment with chenodeoxycholate. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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