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- Title
Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.
- Authors
Ribeiro, Rodrigo Mariano; Vasconcelos, Sophia Costa; Lima, Pedro Lucas Grangeiro de Sá Barreto; Coelho, Emanuel Ferreira; Oliveira, Anna Melissa Noronha; Gomes, Emanuel de Assis Bertulino Martins; Mota, Luciano de Albuquerque; Radtke, Lucas Soares; Carvalho, Matheus dos Santos; Araújo, David Augusto Batista Sá; Pinheiro, Maria Suelly Nogueira; Gama, Vitor Carneiro de Vasconcelos; Júnior, Renan Magalhães Montenegro; Braga Neto, Pedro; Nóbrega, Paulo Ribeiro
- Abstract
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons and peripheral nerves. We conducted this review to evaluate lipid profile abnormalities in patients with CTX. A search was conducted in PubMed, Embase and the Virtual Health Library in January 2023 to evaluate studies reporting the lipid profiles of CTX patients, including the levels of cholestanol, cholesterol and other lipids. Elevated levels of cholestanol were consistently observed. Most patients presented normal or low serum cholesterol levels. A decrease in chenodeoxycholic acid (CDCA) leads to increased synthesis of cholesterol metabolites, such as bile alcohols 23S-pentol and 25-tetrol 3-glucuronide, which may serve as surrogate follow-up markers in patients with CTX. Lipid abnormalities in CTX have clinical implications. Cholestanol deposition in tissues contributes to clinical manifestations, including neurological symptoms and tendon xanthomas. Dyslipidemia and abnormal cholesterol metabolism may also contribute to the increased risk of atherosclerosis and cardiovascular complications observed in some CTX patients.
- Subjects
BLOOD cholesterol; PATHOLOGICAL physiology; CHOLESTEROL metabolism; LIPIDS; CHENODEOXYCHOLIC acid; DYSLIPIDEMIA
- Publication
Brain Sciences (2076-3425), 2023, Vol 13, Issue 7, p979
- ISSN
2076-3425
- Publication type
Article
- DOI
10.3390/brainsci13070979