Arterial and venous thrombosis in two Italian families with the factor V Arg506-->Gln mutation

Eur J Haematol. 1996 Jul;57(1):96-100. doi: 10.1111/j.1600-0609.1996.tb00496.x.

Abstract

APC resistance, due to a point mutation in factor V at amino acid position Arg506, has been identified as a major cause of inherited thrombophilia. Here we report the presence of the factor V Arg506-->Gln mutation in 2 Italian families. In 1 family 3 subjects heterozygous and 2 subjects homozygous for the factor V Arg506-->Gln mutation were identified. The only subject who developed a thrombotic event was a 20-yr-old girl who was found to be homozygous for the factor V Arg506-->Gln mutation. In the second family 10 subjects were identified to be heterozygous for the factor V Arg506-->Gln mutation; among them 2 developed a thrombotic event. In the same family 2 individuals were found to be homozygous for the mutation: the first had a myocardial infarction at age 25 yr and the second suffered from multiple episodes of deep venous thrombosis and had a stroke at age 24 yr. These data show that the risk of developing deep venous thrombosis for the carriers of the factor V Arg506-->Gln mutation is high in the families investigated. Furthermore our data imply that the factor V Arg506-->Gln mutation in its homozygous form may relate to myocardial infarction and stroke.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arginine / genetics*
  • Base Sequence
  • Factor V / genetics*
  • Female
  • Glutamine / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Italy
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Myocardial Infarction / genetics
  • Pedigree
  • Thrombophlebitis / genetics*
  • Thrombosis / genetics*

Substances

  • Glutamine
  • Factor V
  • Arginine