Factor V Leiden: Difference between revisions
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'''Factor V Leiden''' is a | {{SI}} | ||
{{Infobox medical condition | |||
== | | name = Factor V Leiden | ||
Factor V Leiden is the | | image = [[File:Factor_V_Leiden.jpg|250px]] | ||
| caption = Diagram showing the location of the mutation in Factor V Leiden | |||
== | | synonyms = | ||
Factor V Leiden | | pronounce = | ||
| specialty = [[Hematology]] | |||
== | | symptoms = Increased risk of [[venous thromboembolism]] | ||
| onset = | |||
| duration = | |||
| types = | |||
| causes = Mutation in the [[F5 gene]] | |||
| risks = Family history, [[oral contraceptive]] use, [[pregnancy]], [[surgery]] | |||
| diagnosis = [[Genetic testing]], [[activated protein C resistance test]] | |||
| differential = Other causes of thrombophilia | |||
| prevention = | |||
| treatment = [[Anticoagulation]] | |||
| medication = [[Warfarin]], [[Heparin]] | |||
| prognosis = Generally good with treatment | |||
| frequency = 3-8% in people of European descent | |||
| deaths = | |||
}} | |||
{{short description|A genetic disorder affecting blood clotting}} | |||
'''Factor V Leiden''' is a genetic mutation of one of the clotting factors in the blood, known as [[Factor V]]. This mutation results in a variant of Factor V that is resistant to inactivation by activated [[protein C]], leading to an increased risk of [[venous thromboembolism]]. | |||
==Genetics== | |||
Factor V Leiden is caused by a single nucleotide polymorphism (SNP) in the [[F5 gene]], which encodes the Factor V protein. The mutation involves a substitution of adenine for guanine at nucleotide position 1691, resulting in the replacement of the amino acid arginine with glutamine at position 506 in the protein. This specific mutation is referred to as R506Q. | |||
==Pathophysiology== | |||
The Factor V Leiden mutation leads to a form of Factor V that is resistant to cleavage by activated protein C (APC). Normally, APC inactivates Factor V, thus regulating the clotting process. However, in individuals with Factor V Leiden, this regulation is impaired, leading to a hypercoagulable state. This increases the risk of developing abnormal blood clots, particularly in the veins, a condition known as [[thrombophilia]]. | |||
==Epidemiology== | |||
Factor V Leiden is the most common inherited form of thrombophilia. It is particularly prevalent in individuals of European descent, with approximately 5% of Caucasians carrying the mutation. The prevalence is lower in other populations. | |||
==Clinical Manifestations== | |||
Individuals with Factor V Leiden have an increased risk of developing [[deep vein thrombosis]] (DVT) and [[pulmonary embolism]] (PE). The risk is higher in those who are homozygous for the mutation compared to those who are heterozygous. Other risk factors, such as [[oral contraceptive]] use, pregnancy, and surgery, can further increase the risk of thrombotic events in affected individuals. | |||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Factor V Leiden is typically made through genetic testing. A blood test can identify the presence of the Factor V Leiden mutation. In some cases, functional assays that measure the resistance of Factor V to inactivation by APC may also be used. | |||
==Management== | |||
== | Management of Factor V Leiden involves reducing the risk of thrombosis through lifestyle modifications and, in some cases, anticoagulant therapy. Individuals with a history of thrombotic events may require long-term anticoagulation. Those without a history of thrombosis may be advised to avoid additional risk factors, such as smoking and prolonged immobility. | ||
==See also== | |||
* [[Thrombophilia]] | |||
==See | |||
* [[Deep vein thrombosis]] | * [[Deep vein thrombosis]] | ||
* [[Pulmonary embolism]] | * [[Pulmonary embolism]] | ||
* [[ | * [[Protein C]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category: | [[Category:Hematology]] | ||
Latest revision as of 02:01, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Factor V Leiden | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Hematology |
| Symptoms | Increased risk of venous thromboembolism |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Mutation in the F5 gene |
| Risks | Family history, oral contraceptive use, pregnancy, surgery |
| Diagnosis | Genetic testing, activated protein C resistance test |
| Differential diagnosis | Other causes of thrombophilia |
| Prevention | |
| Treatment | Anticoagulation |
| Medication | Warfarin, Heparin |
| Prognosis | Generally good with treatment |
| Frequency | 3-8% in people of European descent |
| Deaths | |
A genetic disorder affecting blood clotting
Factor V Leiden is a genetic mutation of one of the clotting factors in the blood, known as Factor V. This mutation results in a variant of Factor V that is resistant to inactivation by activated protein C, leading to an increased risk of venous thromboembolism.
Genetics[edit]
Factor V Leiden is caused by a single nucleotide polymorphism (SNP) in the F5 gene, which encodes the Factor V protein. The mutation involves a substitution of adenine for guanine at nucleotide position 1691, resulting in the replacement of the amino acid arginine with glutamine at position 506 in the protein. This specific mutation is referred to as R506Q.
Pathophysiology[edit]
The Factor V Leiden mutation leads to a form of Factor V that is resistant to cleavage by activated protein C (APC). Normally, APC inactivates Factor V, thus regulating the clotting process. However, in individuals with Factor V Leiden, this regulation is impaired, leading to a hypercoagulable state. This increases the risk of developing abnormal blood clots, particularly in the veins, a condition known as thrombophilia.
Epidemiology[edit]
Factor V Leiden is the most common inherited form of thrombophilia. It is particularly prevalent in individuals of European descent, with approximately 5% of Caucasians carrying the mutation. The prevalence is lower in other populations.
Clinical Manifestations[edit]
Individuals with Factor V Leiden have an increased risk of developing deep vein thrombosis (DVT) and pulmonary embolism (PE). The risk is higher in those who are homozygous for the mutation compared to those who are heterozygous. Other risk factors, such as oral contraceptive use, pregnancy, and surgery, can further increase the risk of thrombotic events in affected individuals.
Diagnosis[edit]
Diagnosis of Factor V Leiden is typically made through genetic testing. A blood test can identify the presence of the Factor V Leiden mutation. In some cases, functional assays that measure the resistance of Factor V to inactivation by APC may also be used.
Management[edit]
Management of Factor V Leiden involves reducing the risk of thrombosis through lifestyle modifications and, in some cases, anticoagulant therapy. Individuals with a history of thrombotic events may require long-term anticoagulation. Those without a history of thrombosis may be advised to avoid additional risk factors, such as smoking and prolonged immobility.
