Update on cerebrotendinous xanthomatosis.
Journal
Current opinion in lipidology
ISSN: 1473-6535
Titre abrégé: Curr Opin Lipidol
Pays: England
ID NLM: 9010000
Informations de publication
Date de publication:
01 04 2021
01 04 2021
Historique:
pubmed:
26
2
2021
medline:
23
3
2022
entrez:
25
2
2021
Statut:
ppublish
Résumé
Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphic clinical phenotype. Complications of this disease can be devastating and may include severe cognitive impairment and dementia in later stages. Disease progression can be prevented or stabilized by bile acid replacement therapy, although a subset of patients with advanced disease continue to deteriorate despite therapy. Delayed diagnosis of CTX continues to impede effective treatment. A clinical diagnostic algorithm for CTX was developed that can decrease the age of diagnosis of CTX. The strategy of screening children with bilateral juvenile cataracts for CTX also improved diagnosis, as this group had a 500-fold higher-rate of CTX than the general population. Improved diagnosis of CTX is critical, as patients treated early in the course of the disease have significantly better outcomes compared with those treated later. More sensitive and specific biochemical testing for CTX has been developed that is potentially more informative than blood cholestanol to assess treatment efficacy and medication compliance in CTX. Because we are recognizing more severe presentations of CTX in infants and children, and delayed diagnosis and treatment worsens the prognosis, CTX is an excellent candidate disorder for newborn screening using recently reported methods for newborn dried bloodspot analysis.
Identifiants
pubmed: 33630770
doi: 10.1097/MOL.0000000000000740
pii: 00041433-202104000-00010
doi:
Substances chimiques
Bile Acids and Salts
0
Cholestanol
8M308U816E
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
123-131Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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