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Diagnosis & Treatment

How to confirm whether it is CTX

Diagnostic Testing

It is crucial to recognize the symptoms of CTX since early diagnosis and treatment can help prevent the disease from progressing.

Chronic diarrhea, combined with bilateral cataracts in a child or adolescent, should raise suspicion.1 If you notice these symptoms or any signs of neurological problems, such as poor muscle coordination, abnormal reflexes, or intellectual decline, seek advice of a healthcare professional.

CTX is diagnosed using the following methods:2

  • Blood test for plasma cholestanol levels
  • Urine and blood test (plasma) for bile alcohol glucuronides
  • Gene tests

Practices differ from country to country. Please consult your local health care provider if you have concerns.

Importance of Early Diagnosis

Hear more from CTX experts.

Treatment for CTX is Available

Once CTX is diagnosed, beginning treatment as early as possible may help prevent neurological decline.3

CTX is typically treated with bile acid replacement therapy.

In addition to treatment with bile replacement therapy, patients with CTX may be referred to other medical specialists to receive additional treatments or other support to address the complications of the disease.

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

  1. Berginer VM, Gross B, Morad K, Kfir N. Chronic diarrhoea and juvenile cataracts: Think Cerebrotendinous Xanthomatosis and treat. Pediatrics. 2009;123:143-7.
  2. 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.
  3. 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.
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