Fatal Pulmonary Embolism: A Study of Genetic and Acquired Factors

Abstract

Background: Investigators speculate that hereditary thrombotic disease coupled with acquired factors account for a large number of pulmonary thromboemboli. 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 or 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. Retrospective chart review was performed to determine the presence or absence of acquired factors that can predispose to pulmonary thromboemboli.

Results: Two of 36 patients (5.5%) were heterozygous for factor V Leiden. No patients had detected abnormalities for factor II/20210A allele. Eight patients (22.2%) had a malignancy present, one of whom was heterozygous for factor 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 in patients with fatal pulmonary thromboemboli is not greater than published results of the incidence of these factors in the general population. Recognized acquired factors such as malignancy, recent surgery, and immobilization are frequently present in these patients. Our results suggest that genetic profiling of thrombotic disease will not replace clinical vigilance in reducing the risk for death from pulmonary thromboemboli.