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REVIEW article

Front. Cardiovasc. Med.
Sec. Lipids in Cardiovascular Disease
Volume 11 - 2024 | doi: 10.3389/fcvm.2024.1496442

Cerebrotendinous Xanthomatosis: A Literature Review and Case Study

Provisionally accepted
Anthony Matta Anthony Matta 1*Fabienne Ory Magne Fabienne Ory Magne 2Thierry Levade Thierry Levade 2Fabrice Bonneville Fabrice Bonneville 2Jean FERRIERES Jean FERRIERES 2
  • 1 Department of cardiology, Civilians Hospital of Colmar, Colmar, France
  • 2 Centre Hospitalier Universitaire de Toulouse, Toulouse, Occitanie, France

The final, formatted version of the article will be published soon.

    Cerebrotendinous xanthomatosis (CTX) is a rare treatable inherited neurometabolic disorder that ends with severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment. An early diagnosis is essential to improve patient's outcome. Neurological disturbances, cataract and intractable diarrhea are key features to increase diagnostic suspicion and differentiate CTX from other metabolic disorders in patients with dyslipidemia and xanthomas. The diagnosis depends on a high cholestanol plasma level, undetectable plasma bile acids, neuroradiological findings and CYP27A1 gene analysis. This review provides a stepwise approach to patients' with CTX, improves physician's awareness of CTX, and highlights the effectiveness of chenodeoxycholic acid, the standard of care. Also, we report a unique case of CTX with major premature cardiovascular events initially misdiagnosed as heterozygous familial hypercholesterolemia, and evidence to establish c.470T›C (p.Leu157Pro) variant of CYP27A1 gene as a likely pathologic variant.

    Keywords: Cerebrotendinous xanthomatosis, Cholestanol, Bile acid synthesis, Chenodeoxycholic Acid, review

    Received: 14 Sep 2024; Accepted: 15 Nov 2024.

    Copyright: © 2024 Matta, Ory Magne, Levade, Bonneville and FERRIERES. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Anthony Matta, Department of cardiology, Civilians Hospital of Colmar, Colmar, France

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.