Acute myocardial infarction, ischemic cerebrovascular disease and variceal bleeding due to portal vein thrombosis in a patient with hereditary thrombophilia

Blood Coagul Fibrinolysis. 2008 Apr;19(3):243-6. doi: 10.1097/MBC.0b013e3282f30ae5.


We report on a 43-year-old female patient with multiple thrombotic risk factors who, in a few months, developed acute myocardial infarction, an ischemic cerebrovascular event and variceal bleeding due to portal vein thrombosis. The factor V Leiden mutation was carried in heterozygous form, homocysteine was elevated at 19.6 micromol/l, and methylenetetrahydrofolate reductase C677T mutation was carried in homozygous form. Moderately increased plasma homocysteine level and a reduced protein S activity were evident. Anticardiolipin IgG antibodies were mildly positive. We conclude that the presence of multiple genetic and environmental risk factors greatly amplifies the risk of clinical thrombotic events.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Factor V / adverse effects*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Myocardial Infarction / etiology
  • Portal Vein / physiopathology
  • Stroke / etiology
  • Thrombophilia / genetics
  • Thrombophilia / physiopathology*
  • Venous Thrombosis / etiology
  • Venous Thrombosis / genetics
  • Venous Thrombosis / physiopathology*


  • factor V Leiden
  • Factor V
  • Methylenetetrahydrofolate Reductase (NADPH2)