A prospective study of thrombophilia in trauma patients with pulmonary embolism.
BACKGROUND
Pulmonary embolism (PE) is a rare, but often fatal, complication of trauma. To date, there has been no study of the prevalence of thrombophilic abnormalities among trauma patients who sustain a PE. Our purpose was to determine whether heritable thrombophilia is associated with the development of PE in trauma patients.


METHODS
All patients admitted to the trauma service over a five-month period had residual blood from standard laboratory samples stored. Patients were then prospectively followed through their hospital. Greets' formula was used to estimate risk of thromboembolic disease. For every patient who developed a PE (n = 20), four controls with similar risk were randomly selected. DNA samples were genotyped. The genes screened included MTHFR, Factor II, Factor V, and Protein C.


RESULTS
DNA genotyping for Factor V and Protein C revealed only wild-type alleles in the cases. Genotyping of Factor II revealed mutations in 25% (10 of 40) of alleles in the cases and 17% (27 of 160) of alleles in the controls (p = 0.24). Mutation in alleles of the MTHFR1 gene occurred in 28% (11 of 40) of the cases and in 28% (40 of 150) of the controls (p = 0.92); genotyping in five of the controls (10 alleles) was indeterminate at the MTHFR1 alleles after testing.


CONCLUSIONS
No statistically significant differences were found in genetic abnormalities among trauma patients who developed PE and who did not; however, the sample size was small. Routine screening for thrombophilia in trauma patients is not recommended.
Department of Orthopaedic Surgery, University of Texas Southwestern Medical School, Dallas, Texas, USA. joshgary14@gmail.com
Joshua L
JL
Gary
Robert C
RC
Barber
Charles M
CM
Reinert
Adam J
AJ
Starr
D000328:Adult; D000483:Alleles; D005165:Factor V / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011446:Prospective Studies; D011486:Protein C / Q000235:genetics; D011516:Prothrombin / Q000235:genetics; D011655:Pulmonary Embolism / Q000097:blood / Q000209:etiology* / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000150:complications* / Q000235:genetics; D014947:Wounds and Injuries / Q000097:blood / Q000150:complications*
D011486:Protein C; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)