Factor V Leiden
Updates to Article Attributes
Factor V Leiden is a primary hypercoagulable state due to a variant (mutated form) of human factor V. Factor V is one of several coagulation factors that assist in the clotting pathway.
Epidemiology
Heterozygous factor V Leiden may be present is around 5% of the European population and is most common in people of Northern European descent and in some Middle Eastern populations. The homozygous and more severe form is found in fewer than 1%.
Clinical presentation
Patients can have multiple thrombotic-embolic complications which include 1,3,4:
- emboli
- venous thromboses
- organ infarctions
Interestingly, the risk of pulmonary embolism may be lower than the risk of deep venous thrombosis in patients with factor V Leiden, known as the the 'factor V Leiden paradox' 4.
Pathology
Factor V Leiden is caused by a single point mutation in the F5 gene, located on chromosome 1 1,4. Factor V Leiden has a poor anticoagulant response to activated protein C, which normally degrades activated factor V, resulting in a prothrombotic state 4.
Associations
Radiographic features
There are no specific radiographic features. Imaging findings are mainly in the form of identifying thrombotic-embolic complications.
Treatment and prognosis
The presence of factor V Leiden does not change anticoagulant management in patients with thromboembolism, and there is currently no role for prophylactic anticoagulation for patients who are homozygous or heterozygous to the factor V Leiden allele 1.
History and etymology
The mutated factor is named after the city of Leiden, where the seminal research to discover its causative genetic mutation was conducted in 1994, by Rogier M Bertina and his Dutch colleagues 5.
-<p><strong>Factor V Leiden</strong> is a <a href="/articles/primary-hypercoagulable-state">primary hypercoagulable state</a> due to a variant (mutated form) of human factor V. Factor V one of several coagulation factors that assist in the clotting pathway.</p><h4>Epidemiology</h4><p>Heterozygous factor V Leiden may be present is around 5% of the European population and is most common in people of Northern European descent and in some Middle Eastern populations. The homozygous and more severe form is found in fewer than 1%.</p><h4>Clinical presentation</h4><p>Patients can have multiple thrombotic-embolic complications which include <sup>1,3,4</sup>:</p><ul>- +<p><strong>Factor V Leiden</strong> is a <a href="/articles/primary-hypercoagulable-state">primary hypercoagulable state</a> due to a variant (mutated form) of human factor V. Factor V is one of several coagulation factors that assist in the clotting pathway.</p><h4>Epidemiology</h4><p>Heterozygous factor V Leiden may be present is around 5% of the European population and is most common in people of Northern European descent and in some Middle Eastern populations. The homozygous and more severe form is found in fewer than 1%.</p><h4>Clinical presentation</h4><p>Patients can have multiple thrombotic-embolic complications which include <sup>1,3,4</sup>:</p><ul>
-</ul><p>Interestingly, the risk of <a href="/articles/pulmonary-embolism">pulmonary embolism</a> may be lower than the risk of <a href="/articles/deep-vein-thrombosis">deep venous thrombosis</a> in patients with factor V Leiden, known as the the 'factor V Leiden paradox' <sup>4</sup>.</p><h4>Pathology</h4><p>Factor V Leiden is caused by a single point mutation in the <em>F5</em> gene, located on chromosome 1 <sup>1,4</sup>. Factor V Leiden has a poor anticoagulant response to activated protein C, which normally degrades activated factor V, resulting in a prothrombotic state <sup>4</sup>.</p><h5>Associations</h5><ul><li>- +</ul><p>Interestingly, the risk of <a href="/articles/pulmonary-embolism">pulmonary embolism</a> may be lower than the risk of <a href="/articles/deep-vein-thrombosis">deep venous thrombosis</a> in patients with factor V Leiden, known as the 'factor V Leiden paradox' <sup>4</sup>.</p><h4>Pathology</h4><p>Factor V Leiden is caused by a single point mutation in the <em>F5</em> gene, located on chromosome 1 <sup>1,4</sup>. Factor V Leiden has a poor anticoagulant response to activated protein C, which normally degrades activated factor V, resulting in a prothrombotic state <sup>4</sup>.</p><h5>Associations</h5><ul><li>