Coronary heart disease in a patient with cerebrotendinous xanthomatosis

J Intern Med. 2004 Jun;255(6):680-3. doi: 10.1111/j.1365-2796.2004.01316.x.


Coronary heart disease is a prevalent condition and a leading cause of death in developed countries. Most cases are due to the cluster of classical risk factors, such as smoking, diabetes, high blood pressure and dyslipidaemia. However, a few patients develop severe and premature arteriosclerosis in spite of absence of common risk factors. Here, we present the clinical, analytical and molecular features of a 36-years-old man who died from advanced ischaemic heart disease as a result of cerebrotendinous xanthomatosis (CTX), a rare condition characterized by elevation in plasma and most tissues of cholestanol and where neurological impairment is the hallmark of this disease. We discuss the relevance of heart disease and the mechanism leading to accelerate arteriosclerosis is CTX.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Coronary Disease / complications*
  • Coronary Disease / pathology
  • Family Health
  • Fatal Outcome
  • Humans
  • Knee
  • Male
  • Mutation / genetics
  • Skin / pathology
  • Xanthomatosis, Cerebrotendinous / complications*
  • Xanthomatosis, Cerebrotendinous / genetics
  • Xanthomatosis, Cerebrotendinous / pathology