Prothrombin gene mutation uncommon in pulmonary embolism.
BACKGROUND
Venous thrombosis followed by pulmonary embolism is one of the most common causes of sudden death among middle-aged adults. Several inherited polymorphisms are associated with heightened risk of venous thrombosis, including mutation at position 20210 of the prothrombin gene and mutation at codon 506 of the factor V gene.


METHODS
We studied mutation prevalence in 67 individuals who died of pulmonary embolism and were autopsied in a medical examiner's facility over a 5-year period. Mutations were identified by polymerase chain reaction followed by allele-specific endonuclease digestion.


RESULTS
Traditional risk factors for pulmonary embolism (eg, immobility, oral contraceptive use, cancer) were identified in 75%. Heterozygous mutation of the prothrombin gene was found in 3/67 (4%), and heterozygous mutation of the factor V gene was identified in 3/66 (4%). No homozygotes or compound heterozygotes were identified. The prevalence of mutation was not significantly different from that of the general population.


CONCLUSIONS
Individuals who die suddenly from pulmonary embolism are not often affected by prothrombin or factor V gene mutations. Therefore, medical examiners need not routinely test for these mutations in individuals who die of pulmonary embolism.
Kohlmeier
R E
RE
Department of Pathology, University of Texas Health Science Center and Audie L. Murphy Veteran's Hospital, San Antonio 78284-7750, USA.
Cho
C G
CG
Bux
R C
RC
Guerra
L
L
Rulon
J J
JJ
Selby
D M
DM
Gulley
M L
ML
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003645:Death, Sudden / Q000209:etiology; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010865:Pilot Projects; D011516:Prothrombin / Q000235:genetics*; D011655:Pulmonary Embolism / Q000150:complications / Q000235:genetics*; D012307:Risk Factors; D020246:Venous Thrombosis / Q000150:complications / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin