Cerebrotendinous Xanthomatosis (CTX) Treatment & Management

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

Early diagnosis of cerebrotendinous xanthomatosis (CTX) is imperative because it is a treatable disease. This early diagnosis depends on recognition of early signs and symptoms, specifically the combination of diarrhea and cataracts along with personal or family history of infantile hepatitis, prolonged jaundice, or early infantile death.

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Surgical Care

Cataract repair may be indicated. Surgical xanthoma removal is not recommended. Liver transplantation has been reported in patients with end-stage liver disease, although details are not available at the time of this writing. [73]

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Consultations

Consultation with the following may be indicated:

  • Gastroenterologist

  • Ophthalmologist

  • Metabolic and genetic disease specialist

  • Developmental specialist

  • Neurologist

  • Orthopedist

  • Cardiologist

  • Lipid disorder specialist

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Diet

A diet low in cholestanol containing foods (eg, egg yolk, butter, cheddar cheese) can significantly reduce plasma cholestanol and cholesterol levels; however, true clinical benefit is not seen unless pharmacologic therapy is also started. Dietary restriction is probably not necessary if pharmacologic treatment is commenced (see below).

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Prevention

Therapy with chenodeoxycholic acid (CDCA) can halt and reverse symptoms of the illness, including GI and neurologic complications.

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Long-Term Monitoring

The annual examination in patients with cerebrotendinous xanthomatosis (CTX) should consist of the following: [7]

  • Neurologic and neuropsychologic evaluation
  • Cholestanol plasma concentration assessment
  • Brain MRI in selected cases
  • Echocardiography when indicated
  • Bone mineral density assessment when indicated
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