Hyperhomocysteinaemia and multiple aneurysms

Postgrad Med J. 1991 Feb;67(784):186-8. doi: 10.1136/pgmj.67.784.186.

Abstract

Homozygous homocystinuria, the most common genetic disorder of transulphuration, is associated with elevated plasma concentrations of homocystine, homocysteine, multiple clinical abnormalities and life-threatening thromboembolism. Several instances of vascular aneurysms have also been documented. More recently, an association between premature occlusive vascular disease and the heterozygous state has been proposed. We now report an unusual case in whom multiple aneurysms were associated with heterozygous homocystinuria.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / blood
  • Amino Acid Metabolism, Inborn Errors / complications*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Aneurysm / complications*
  • Aneurysm / pathology
  • Femoral Artery / pathology
  • Heterozygote
  • Homocysteine / blood
  • Homocysteine / metabolism*
  • Humans
  • Iliac Artery / pathology
  • Male
  • Middle Aged
  • Popliteal Artery / pathology

Substances

  • Homocysteine