Pulmonary embolism and premature labor in a patient with both factor V Leiden mutation and methylenetetrahydrofolate reductase gene C677T mutation.
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.
Peng
F
F
Department of Medical Research, Ball Memorial Hospital, Muncie, IN 47303, USA.
Triplett
D
D
Barna
L
L
Morrical
D
D
D000328:Adult; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D007752:Obstetric Labor, Premature; D017354:Point Mutation; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000097:blood* / Q000209:etiology; D011655:Pulmonary Embolism / Q000097:blood* / Q000209:etiology; D012307:Risk Factors; D013762:Tetrahydrofolate Dehydrogenase / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D013762:Tetrahydrofolate Dehydrogenase