Cerebrotendinous xanthomatosis (CTX) is a rare, debilitating and potentially life-limiting genetic disorder.
Could it be CTX?
Cerebrotendinous xanthomatosis (CTX) is a rare, debilitating and potentially life-limiting genetic disorder.
What is CTX?
CTX is a rare, inherited, metabolic disorder characterized by the abnormal storage of certain fats (lipids) in many areas of the body, particularly in the eyes, brain, and tendons. The accumulation of these lipids can cause potentially devastating neurological and systemic problems.1,2
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Recognize
What are the signs and symptoms of CTX?
The signs and symptoms of CTX vary with age and over time and involve various vital organs and body systems.
The hallmark manifestations of CTX include:
- Infant-onset diarrhea
- Juvenile cataracts
- Tendon xanthomas
- Progressive neurological signs and symptoms
Other symptoms may include neonatal jaundice, premature osteoporosis, other vision problems, psychiatric disorders, and cardiac diseases, etc.2 Because CTX neurological symptoms can worsen over time, early diagnosis and treatment are critical.
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Confirm & Act
How is CTX diagnosed & treated?
CTX can be diagnosed through blood and urine tests. Genetic testing is recommended to confirm the diagnosis.
Once the diagnosis is confirmed, CTX is typically treated with bile acid replacement therapy. Beginning treatment as early as possible may help prevent the neurological symptoms of the disease.3
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Resources
Organizations that offer support and services for CTX patients and their families.
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Concerns About CTX?
If you are suspicious of or diagnosed with CTX, please seek your local healthcare practitioners for professional consultation, as practice and referral systems vary from country to country.
References
- Federico A, Dotti MT, Gallus GN. Cerebrotendinous xanthomatosis. In: Adam MP, Ardinger HH, Pagon RA et al, editors. Gene Reviews [Internet]. Seattle: University of Washington; 2013; updated 2016. https://www.ncbi.nlm.nih.gov/books/NBK1409/. Accessed 25 January 2018.
- Steiner RD. Cerebrotendinous xanthomatosis. Medscape; 2015; updated 2017. https://emedicine.medscape.com/article/1418820-overview#showall. Accessed 29 January 2018.
- Yahalom G, Tsabari R, Molshatzki N, et al. Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid: Early Versus Late Diagnosis. Clinical Neuropharmacology. 2013;36(3):78-83.