Pulmonary embolism and premature labor in a patient with both factor V Leiden mutation and methylenetetrahydrofolate reductase gene C677T mutation

Thromb Res. 1996 Aug 1;83(3):243-51. doi: 10.1016/0049-3848(96)00133-8.

Abstract

Multiple risk factors for thrombosis were found in a 21 year old female who experienced three episodes of premature labor and developed severe pulmonary embolism during her third pregnancy. This patient is heterozygous for factor V Leiden mutation and homozygous for methylenetetrahydrofolate reductase (MTHFR) gene nucleotide 677 C to T (C677T) point mutation. This is a first report of the concordance of homozygous MTHFR C677T mutation in an individual with factor V Leiden mutation. This new case provides further evidence that synergism of multiple genetic and acquired risk factors is often encountered in young patients with symptomatic venous thrombosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Factor V / genetics*
  • Female
  • Humans
  • Obstetric Labor, Premature
  • Point Mutation
  • Pregnancy
  • Pregnancy Complications, Cardiovascular / blood*
  • Pregnancy Complications, Cardiovascular / etiology
  • Pulmonary Embolism / blood*
  • Pulmonary Embolism / etiology
  • Risk Factors
  • Tetrahydrofolate Dehydrogenase / genetics*

Substances

  • factor V Leiden
  • Factor V
  • Tetrahydrofolate Dehydrogenase