Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report

Chem Phys Lipids. 2011 Sep;164(6):530-4. doi: 10.1016/j.chemphyslip.2011.05.001. Epub 2011 Jun 6.


Cerebrotendinous xanthomatosis (CTX) is a rare, inherited autosomal-recessive lipid-storage disorder caused by 27-hydroxylase deficiency. In this study, we report of a 30-year old man with this disorder who was treated using chenodeoxycholic acid, simvastatin, and low-density lipoprotein (LDL) apheresis. The LDL apheresis was performed weekly for nine months. The first subjective improvement was reported by the patient after his fourth LDL-apheresis. Spasticity, gait disturbances, and his entire psychomotoric test results had improved tremendously. His fine motoric skills have been regained. The efficacy of LDL-apheresis was monitored using quantitative determination of 7α-OH-4-cholesten-3-one in plasma based on a LC-MS/MS method. The clearance efficacy of 7α-hydroxy-4-cholesten-3-one from the patient's plasma per LDL-apheresis varied between 8% and 53% but returned to the initial high levels after seven days (mean value 241 ng/mL). A slight negative trend in the plasma concentration could be derived over the period of nine months.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blood Chemical Analysis*
  • Blood Component Removal
  • Chenodeoxycholic Acid / therapeutic use
  • Cholestenones / blood*
  • Follow-Up Studies
  • Humans
  • Lipoproteins, LDL / blood
  • Male
  • Simvastatin / therapeutic use
  • Treatment Outcome
  • Xanthomatosis, Cerebrotendinous / blood*
  • Xanthomatosis, Cerebrotendinous / drug therapy
  • Xanthomatosis, Cerebrotendinous / therapy*


  • Cholestenones
  • Lipoproteins, LDL
  • Chenodeoxycholic Acid
  • 7 alpha-hydroxy-4-cholesten-3-one
  • Simvastatin