Factor V Leiden thrombophilia is a genetic disorder that increases the risk of abnormal blood clot formation.
Factor V Leiden thrombophilia is a genetic condition that increases the risk of developing abnormal blood clots, known as thrombosis. It’s named after the city of Leiden in the Netherlands, where it was first identified.
This condition can often be managed effectively with appropriate medical interventions, helping to prevent and treat blood clots.
Factor V Leiden thrombophilia is caused by a specific mutation in the F5 gene, which provides instructions for making a protein called Factor V. This protein is crucial in the blood clotting process, which helps stop bleeding when we get injured.
The mutation is inherited in an autosomal dominant pattern. This means that having one copy of the mutated gene from either parent can increase the risk of developing blood clots. People with two copies of the mutation (one from each parent) have an even higher risk of clotting problems.
Having one copy of the factor V Leiden gene mutation is fairly common, especially among white people. It affects
If you have one copy of the gene, each of your children has a
If both you and your partner each have one copy of the gene,
- 25% chance your child will have two copies (higher risk of clots)
- 50% chance your child will have one copy (increased risk of clots)
- 25% chance your child will have no copies of the gene (normal risk)
Still, only a small percentage of people with this condition will experience a blood clot during their lifetime.
Factor V Leiden mutation primarily increases the risk of venous thromboembolism (VTE), a condition in which blood clots form in veins.
The
Here are the symptoms of each:
- swelling in one leg
- pain or tenderness in the leg, especially when standing or walking
- red or discolored skin on the leg
- warmth in the affected area
- sudden shortness of breath
- sharp chest pain or discomfort
- rapid or irregular heartbeat
- coughing up blood
While Factor V Leiden’s role in arterial thromboembolism, such as heart attacks and strokes, is debated, studies suggest a slight increase in risk. This risk may be more pronounced in females, smokers, and younger individuals.
Treatment options for Factor V Leiden thrombophilia focus on managing and preventing blood clots. The approach varies depending on whether the person has experienced a clot or not, and whether they have other risk factors.
Treating existing clots
When managing a clot due to Factor V Leiden thrombophilia, the primary goal is to dissolve the clot and prevent further clotting.
Treatment begins with anticoagulants to quickly address the clot and reduce the risk of new ones. Initially, injectable anticoagulants such as heparin or low molecular weight heparin are used for their rapid effect.
After stabilizing the situation, patients typically transition to oral anticoagulants like warfarin or direct oral anticoagulants, which are used for longer-term management.
For severe cases, thrombolytics, which are medications that dissolve clots, may be administered, but these carry a higher risk of bleeding and are reserved for critical situations.
The duration of anticoagulant therapy usually spans from 3 to 6 months, but in some cases, extended treatment may be required, particularly if the patient has recurrent clots or high risk factors.
Preventive measures
Pregnant people with Factor V Leiden thrombophilia, particularly those with a history of blood clots or those who are homozygous for the gene (have two copies, one from each parent), may need to use anticoagulants both during and after pregnancy to reduce the risk of clotting.
Those with a history of blood clots should avoid estrogen-containing birth control and HRT methods. Estrogen can increase the risk of clot formation, so it’s important to choose alternative methods.
Most insurance plans typically cover medications, such as anticoagulants, that are used to manage or prevent blood clots in individuals with Factor V Leiden thrombophilia.
Insurance may cover preventive treatments or interventions if there’s a documented history of blood clots or other risk factors. Coverage for genetic testing to diagnose Factor V Leiden may also be included, though this can depend on whether the testing is deemed medically necessary.
For pregnant people, coverage for anticoagulants and monitoring during pregnancy might be provided based on the policy and medical necessity.
Use the following ICD-10 codes when inquiring about coverage for genetic testing or treatment options.
- D68.51 – Factor V deficiency
- D68.52 – Activated protein C resistance due to factor V mutation
For individuals with Factor V Leiden thrombophilia, certain precautions can help reduce the risk of developing blood clots.
Consider avoiding the following:
- Estrogen-containing birth control pills: Estrogen-containing contraceptives can increase the risk of blood clots. Alternatives such as progestin-only contraceptives or nonhormonal methods should be considered.
- Hormone replacement therapy (HRT): Estrogen-based HRT for menopausal symptoms or gender affirming care should be avoided. Discuss nonestrogen options with a healthcare professional.
- Long trips with extended sitting: During long flights or car trips, take breaks to walk and stretch to improve circulation. Compression stockings may also be helpful.
- Bed rest: Prolonged bed rest due to illness or surgery should be managed with guidance from a healthcare professional to mitigate clot risk.
Factor V Leiden thrombophilia is a genetic condition that raises the risk of abnormal blood clots, mainly in the veins.
People with this mutation need to manage their risk factors carefully and follow specific treatment plans to prevent clots.