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

Fangyu Peng, Douglas Triplett, Linda Barna, Daryl Morrical

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)243-251
Number of pages9
JournalThrombosis research
Volume83
Issue number3
DOIs
StatePublished - Aug 1 1996

Keywords

  • MTHFR gene
  • Pulmonary embolism
  • activated protein C resistance
  • factor V
  • homocysteine
  • premature labor

ASJC Scopus subject areas

  • Hematology

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