Fatal pulmonary embolism: A study of genetic and acquired factors

Abstract

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.

Fatal pulmonary thromboembolism. A retrospective autopsy study: Searching for genetic thrombophilias (Factor V Leiden (G1691A) and FII (G20210A) gene variants) and dating the thrombus

“…The review of our patients' records showed that trauma, recent major and/or orthopedic surgery, and immobilization were the most common circumstantial risk factors. This indicates that a genetic profile of thrombotic risk will not replace clinical vigilance in patients under these conditions [17]. In our case series, only one case showed an inherited thrombophilia mutation, carried in heterozygosis: the FII (G20210A) gene variant was found in a 41 year old woman, whereas in all other cases patients were more than 60 year old.…”

Factor V Leiden and The Risk of Pulmonary Embolism

“…The relative risk of the very rare fatal pulmonary embolus, which is the only cause of death, may also be not more than the relative risk for DVT in the carriers of the FVL mutation. Similarly, other studies regarding the relationship between FVL and PE using autopsy material found no association between them [29,30].…”

The relationship between FV Leiden and pulmonary embolism

“…The prevalence of 10% found in the second autopsy series reflected only a three-fold increase in risk, a relative risk below what would have been expected for DVT [13]. In addition to the work by Vandenbroucke and colleagues, three further studies by other investigators also used autopsy material to look at the relationship between FV Leiden and PE and found no association [14,15,16]. …”