CEREBROTENDINOUS XANTHOMATOSIS CAN BE CHALLENGING TO DIAGNOSE1
CTX: Rare and Underdiagnosed2
CTX is a rare autosomal-recessive lipid storage disease, caused by a mutation in the CYP27A1 gene, resulting in deficiency of sterol-27-hydroxylase.1-3
CTX causes an array of manifestations, each with variable onset and severity.1,3
The key signs and symptoms of CTX include1,2,4-6:
Idiopathic Bilateral Cataracts
Neurological Deterioration/ Movement Disorders
Tendon Xanthomas
Neonatal Cholestasis/ Prolonged Jaundice
Chronic Diarrhea
EARLIER DIAGNOSIS MAY IMPROVE PATIENT OUTCOMES1
Because clinical manifestations affect different organ systems, patients are likely to present to different specialists, potentially leading to delayed diagnosis and underdiagnosis.1,7
Refer to the figure for average age of onset for each of these signs and symptoms.
Potential Signs and Symptoms1,2,4-6
**A small number of genetic disorders affect lipoproteins and can lead to xanthomas: cerebrotendinous xanthomatosis (CTX), familial hypercholesterolemia, and sitosterolemia.7
If you suspect a patient has CTX, or may have been misdiagnosed with a different disorder, genetic testing can help confirm a CTX diagnosis.
Mirum Offers 2 No-Cost Genetic Testing Options*
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References:
1.
Mignarri A, Gallus GN, Dotti MT, Federico A. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2014;37(3):421-429. doi:10.1007/s10545-013-9674-3
2.
Lorincz MT, Rainier S, Thomas D, Fink JK. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Arch Neurol. 2005;62(9):1459-1463. doi:10.1001/archneur.62.9.1459
3.
Stelten BML, Huidekoper HH, van de Warrenburg BPC, et al. Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. Neurology. 2019;92(2):e83-e95. doi:10.1212/WNL.0000000000006731
4.
Verrips A, Hoefsloot LH, Steenbergen GC, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain. 2000;123(Pt5)123:908-919. doi:10.1093/brain/123.5.908
5.
Verrips A, van Engelen BG, Wevers RA, et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol. 2000;57(4):520-524. doi:10.1001/archneur.57.4.520
6.
Clayton PT, Verrips A, Sistermans E, Mann A, Mieli-Vergani G, Wevers R. Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2002;25(6):501-513. doi:10.1023/a:1021211520034
7.
Federico A, Gallus GN. Cerebrotendinous xanthomatosis. 2003 Jul 16 [Updated 2022 Mar 17]. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2024. Accessed January 2024. https://www.ncbi.nlm.nih.gov/books/NBK1409/
