Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives.
CDCA
CTX
CYP27A1
Cerebrotendinous xanthomatosis
Chenodeoxycholic acid
Journal
Advances in therapy
ISSN: 1865-8652
Titre abrégé: Adv Ther
Pays: United States
ID NLM: 8611864
Informations de publication
Date de publication:
19 Dec 2023
19 Dec 2023
Historique:
received:
18
05
2023
accepted:
14
09
2023
medline:
19
12
2023
pubmed:
19
12
2023
entrez:
19
12
2023
Statut:
aheadofprint
Résumé
In this article, patients with cerebrotendinous xanthomatosis (CTX) and caregivers detail their experience with lifelong symptoms, diagnosis, treatment and efficacy, and ongoing disease management. One patient and four caregivers describe the challenges associated with pursuing a correct diagnosis for years before testing confirmed a CTX diagnosis. They also detail their ongoing struggles and desire for greater access to physicians with CTX knowledge and to reliable online resources to continue their education about the disease and strategies for symptom management. The expert perspective is a direct response by three CTX researchers, including physicians who are treating patients with CTX in the United States and experts whose laboratories provide genetic and biochemical testing for CTX. They respond to many of the patient and caregiver concerns, including steps that are being taken to identify CTX earlier and provide access to confirmatory diagnostic testing sooner, and suggest the best online resources for CTX-related information and access to webinars and support groups. While the expert perspective is a direct response to the patient and caregiver authors' CTX journeys, it should be beneficial to any patient with CTX or their caregivers.
Identifiants
pubmed: 38110654
doi: 10.1007/s12325-023-02687-8
pii: 10.1007/s12325-023-02687-8
doi:
Types de publication
Journal Article
Langues
eng
Informations de copyright
© 2023. The Author(s).
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