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 language | English (US) |
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Pages (from-to) | 243-251 |
Number of pages | 9 |
Journal | Thrombosis research |
Volume | 83 |
Issue number | 3 |
DOIs | |
State | Published - Aug 1 1996 |
Keywords
- MTHFR gene
- Pulmonary embolism
- activated protein C resistance
- factor V
- homocysteine
- premature labor
ASJC Scopus subject areas
- Hematology