title: [Cerebral vascular complication of hyperhomocysteinemia. Controlling thromboembolic complications with folates].
abstract: BACKGROUND
  Young patients who experience cardiovascular events may have raised levels of homocysteine. There may be several causes for this hyperhomocysteinemia.
  
  
  METHODS
  Cerebrovascular disease occurred in a 40-year-old female smoker with hyperhomocysteinemia. This patient subsequently had several episodes of thromboembolism involving the brain and lower limb arteries. Prothrombin concentration was difficult to control with antivitamin K anticoagulants. Investigations to identify a genetic cause of hyperhomocysteinemia revealed that she was homozygous for the C677T mutation on the methylenetetrahydrofolate reductase gene. There was no G1691A mutation of the factor V gene, a risk factor for familial thrombosis. Supplementation with folic acid successfully halted episodes of thromboembolism (follow-up 2 years) and prothrombin levels stabilized under treatment.
  
  
  CONCLUSIONS
  The C677T mutation, which is common in the general population (15.7%), cannot explain the effect of folate supplementation alone. Other mutations affecting homocysteine metabolism could have a potentializing effect on vascular events.
authors.affiliation: Laboratoire de Biochimie, Hôpital Pasteur, Nice.
authors.forename: M
authors.initials: M
authors.lastname: Candito
authors.forename: P
authors.initials: P
authors.lastname: Bedoucha
authors.forename: D
authors.initials: D
authors.lastname: Jambou
authors.forename: A
authors.initials: A
authors.lastname: Appert-Flory
authors.forename: F
authors.initials: F
authors.lastname: Fisher
authors.forename: F
authors.initials: F
authors.lastname: Parrot-Roulaud
authors.forename: J
authors.initials: J
authors.lastname: Bayle
authors.forename: E
authors.initials: E
authors.lastname: Van Obberghen
authors.forename: M
authors.initials: M
authors.lastname: Chatel
mesh_terms: D000328:Adult; D005165:Factor V / Q000235:genetics; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use*; D006710:Homocysteine / Q000097:blood* / Q000235:genetics / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D002542:Intracranial Embolism and Thrombosis / Q000097:blood* / Q000188:drug therapy; D007866:Leg / Q000098:blood supply; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics; D009154:Mutation; D013927:Thrombosis / Q000188:drug therapy / Q000517:prevention & control
chemical_list: D006710:Homocysteine; D005165:Factor V; D005492:Folic Acid; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP)