The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.
JCEM Case Rep
; 2(2): luae004, 2024 Feb.
Article
in En
| MEDLINE
| ID: mdl-38249444
ABSTRACT
Tendinous xanthomas are usually a sign of genetic dyslipidemias and are said to be pathognomonic for familial hypercholesterolemia. However, the differential diagnosis must also include rarer forms of genetic dyslipidemias such as cerebrotendinous xanthomatosis (CTX). In this report, we present the diagnostic odyssey of a French-Canadian patient presenting with Achilles tendon xanthomas and an unusual mild to moderate hypercholesterolemia. Comprehensive biochemical and genetic investigations confirmed the diagnosis of CTX, 20 years after the onset of her first symptoms. We also describe a new variant in the CYP27A1 gene associated with this atypical case and expand the clinical phenotype of this rare genetic condition. CTX is thought to be underdiagnosed, and early diagnosis and treatment of this disease is essential as it has been shown to greatly improve the patient's symptoms and prognosis.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Language:
En
Journal:
JCEM Case Rep
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: