Clinical features in 36 patients homozygous for the ARG 506-->GLN factor V mutation

Thromb Haemost. 1997 Apr;77(4):620-3.

Abstract

We analyzed the clinical features of 36 patients homozygous for the Arg 506 to Gln factor V mutation and found a circumstantial event at risk for thrombosis in 29 of the 31 patients with thrombosis. The most frequent predisposing factors were the post-partum period and the use of oral contraceptives in women, and surgery in both sexes. Venous thrombosis recurred in 48% of the patients. One patient had a myocardial infarction at age 33 years, and also had an antiphospholipid syndrome. Homozygous Gln 506 mutation leads to far less severe thrombotic complications than homozygous protein C and protein S deficiencies and does not seem to predispose patients to arterial thrombosis.

MeSH terms

  • Adult
  • Aged
  • Arginine / chemistry*
  • Case-Control Studies
  • Extremities / blood supply
  • Factor V / genetics*
  • Female
  • Glutamine / chemistry*
  • Homozygote*
  • Humans
  • Ischemia / genetics
  • Male
  • Middle Aged
  • Myocardial Infarction / genetics
  • Point Mutation*
  • Risk Factors
  • Sex Characteristics
  • Thrombosis / genetics*

Substances

  • Glutamine
  • Factor V
  • Arginine