Cerebrotendinous Xanthomatosis (CTX) Treatment & Management

Updated: Dec 08, 2021
  • Author: Austin Larson, MD; Chief Editor: Maria Descartes, MD  more...
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Medical Care

Early diagnosis of 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. A recent publication has compiled expert opinion on best practices for patient management. [76]




Surgical Care

Lensectomy and intraocular lens placement may be indicated for patients with visually significant cataracts. Surgical removal of tendon xanthomas is not recommended. One patient is reported to have undergone liver transplantation in infancy due to liver failure. [73]




Consultation with the following may be indicated:

  • Gastroenterologist
  • Ophthalmologist
  • Metabolic and genetic disease specialist
  • Developmental specialist
  • Neurologist
  • Orthopedist
  • Cardiologist
  • Lipid disorder specialist


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 probably is not necessary if pharmacologic treatment is commenced (see below).



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

Parents who both are known to be carriers for mutations in CYP27A1 can undergo in vitro fertilization with preimplantation genetic diagnosis to exclude implantation of embryos with biallelic mutations in CYP27A1


Long-Term Monitoring

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

  • Neurologic and neuropsychologic evaluation
  • Cholestanol plasma concentration assessment. Elevated cholestanol results (or changes in clinical status) may warrant further investigation and potential treatment modification. Other biomarkers may be useful to more rapidly monitor treatment efficacy compared to cholestanol.
  • Liver enzymes
  • Brain MRI in selected cases
  • Echocardiography when indicated
  • Bone mineral density assessment when indicated