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Factor V Leiden and fatal pulmonary embolism
J P Vandenbroucke1, R M Bertina, Z R Holmes
1Department of Clinical Epidemiology, Leiden University Medical Center, The Netherlands.
Thrombosis and Haemostasis
|April 8, 1998
Summary
The factor V Leiden mutation does not increase the risk of fatal pulmonary emboli in patients with severe illness. Its role in rare, sole-cause fatal pulmonary emboli may also be less significant than for deep-vein thrombosis.
Area of Science:
- Hematology
- Genetics
- Pathology
Background:
- Factor V Leiden mutation is a common inherited thrombophilia.
- Pulmonary embolism (PE) is a significant cause of mortality.
- The association between factor V Leiden and fatal PE requires further investigation.
Purpose of the Study:
- To determine if the factor V Leiden mutation is associated with an increased risk of fatal pulmonary emboli.
- To investigate the mutation's role in PE as a sole cause of death versus PE in patients with underlying disease.
Main Methods:
- DNA analysis of factor V Leiden mutation in archival autopsy tissue.
- Two autopsy series from Leiden University Hospital were analyzed.
- Series 1: Consecutive autopsies mentioning PE; Series 2: PE as sole cause of death in patients <70 years without acquired risk factors.
Main Results:
- Factor V Leiden prevalence in Series 1 (2.3%) was similar to the general population.
- Factor V Leiden prevalence in Series 2 (10%) suggested a threefold relative risk for fatal PE as the sole cause of death.
- A significant number of patients in Series 2 had psychiatric diagnoses.
Conclusions:
- Factor V Leiden mutation does not appear to play an additional role in PE development when severe underlying illness is present.
- The relative risk of factor V Leiden for rare, sole-cause fatal PE may be lower than for deep-vein thrombosis.
- Further research is needed to clarify the specific risk associated with factor V Leiden in different PE scenarios.