Fatal pulmonary embolism: A study of genetic and acquired factors

Background: Investigators speculate that hereditary thrombotic disease coup led with acquired factors account for a large number of pulmonary thromboem boli. Clinical correlation between genetic and acquired factors with fatal pulmonary thromboemboli has not been extensively studied. Methods: Archival autopsy material was obtained from patients who died of o r with pulmonary emboli for whom confirmed autopsy results were available. Polymerase chain reaction-restriction fragment length polymorphism analysis was performed for factor V Leiden and factor II/20210A allele. Retrospecti ve chart review was performed to determine the presence or absence of acqui red factors that can predispose to pulmonary thromboemboli. Results: Two of 36 patients (5.5%) were heterozygous for factor V Leiden. N o patients had detected abnormalities for factor II/20210A allele. Eight pa tients (22.2%) had a malignancy present, one of whom was heterozygous for f actor V Leiden. Fourteen patients (38.8%) had recent major surgery or were immobilized. Conclusions: The incidence of factor V Leiden and factor II/20210A allele i n patients with fatal pulmonary thromboemboli is not greater than published results of the incidence of these factors in the general population. Recog nized acquired factors such as malignancy, recent surgery, and immobilizati on are frequently present in these patients. Our results suggest that genet ic profiling of thrombotic disease will not replace clinical vigilance in r educing the risk for death from pulmonary thromboemboli.