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Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice.
Medical Information & Treatment Guide
Factor V Leiden (ICD-10: D68.51) is a genetic blood clotting disorder caused by a mutation in the F5 gene. This condition increases the risk of developing abnormal blood clots, such as deep vein thrombosis (DVT) or pulmonary embolism (PE).
Prevalence
5.0%
Common Drug Classes
Clinical information guide
Factor V Leiden is an inherited blood-clotting disorder caused by a specific mutation in the F5 gene. In a healthy circulatory system, the Factor V protein helps the blood clot when an injury occurs. However, a specific mutation makes the Factor V protein resistant to inactivation by Activated Protein C (APC), a natural anticoagulant. This resistance leads to a prothrombotic state (a tendency to form clots too easily). According to the National Human Genome Research Institute (NHGRI, 2024), this is the most common inherited form of thrombophilia (blood-clotting disorder) in the United States.
Epidemiology data indicates that Factor V Leiden is most prevalent among individuals of European descent. According to the Centers for Disease Control and Prevention (CDC, 2023), approximately 3% to 8% of people with European ancestry carry one copy of the mutation. It is significantly less common in populations of African, Asian, or Native American descent, where prevalence rates often fall below 1%. Research published in the Journal of Thrombosis and Haemostasis (2022) suggests that while many people carry the gene, only about 10% of those with the mutation will ever develop an abnormal blood clot.
Factor V Leiden is classified based on the number of mutated genes inherited:
For many, Factor V Leiden is a 'silent' condition that does not affect daily life until a clot occurs. However, for those who have experienced a Deep Vein Thrombosis (DVT), the impact can include chronic pain, swelling (post-thrombotic syndrome), and anxiety regarding recurrence. It requires significant lifestyle adjustments during high-risk scenarios, such as long-duration travel, pregnancy, or surgical recovery, where the risk of immobility-induced clotting is heightened.
Detailed information about Factor V Leiden
Factor V Leiden itself does not cause physical symptoms. Instead, the symptoms are the result of the blood clots it causes. The first indicator is often the development of a Deep Vein Thrombosis (DVT), which typically occurs in the legs.
Answers based on medical literature
Factor V Leiden is a genetic mutation, which means there is currently no cure to 'fix' the mutated F5 gene. However, the condition is highly manageable, and most people who have the mutation do not require daily treatment. Management focuses on preventing blood clots during high-risk times rather than changing the genetic code itself. With modern medicine, the risks associated with the condition can be effectively mitigated. Advances in gene therapy are being researched, but they are not currently a standard of care for this condition.
Not everyone with Factor V Leiden needs to take lifelong anticoagulants. Most healthcare providers only prescribe these medications if you have experienced one or more blood clots or if you have the homozygous form of the mutation. If you have the mutation but have never had a clot, you may only need medication temporarily during high-risk events like major surgery or pregnancy. The decision for long-term therapy is individualized based on your personal and family history. Always discuss the risks and benefits of long-term anticoagulation with a hematologist.
This page is for informational purposes only and does not replace medical advice. For treatment of Factor V Leiden, consult with a qualified healthcare professional.
If a clot breaks loose and travels to the lungs, it becomes a Pulmonary Embolism (PE), which is a life-threatening emergency. Symptoms include:
> Important: Seek immediate medical attention if you experience sudden shortness of breath, chest pain that radiates to the shoulder or arm, or unexplained swelling in one limb accompanied by pain. These are red flags for Pulmonary Embolism or DVT.
Symptoms are rarely seen in children. Risk increases significantly with age, particularly after 40. In women, symptoms are often first triggered by hormonal changes, such as starting oral contraceptives or during pregnancy, which further increase the blood's tendency to clot.
Factor V Leiden is caused by a single point mutation in the F5 gene, which provides instructions for making the coagulation factor V protein. In healthy individuals, Activated Protein C (APC) breaks down Factor V to prevent clots from growing too large. In those with this mutation, the Factor V protein is shaped differently, making it resistant to APC. This allows the clotting process to continue longer than necessary. Research published in the New England Journal of Medicine (NEJM) confirms that this mutation is inherited in an autosomal dominant pattern.
According to the American Society of Hematology (ASH, 2023), the highest risk group includes individuals who are homozygous for the mutation and those who combine the genetic risk with acquired factors like major surgery or cancer. Caucasian populations have a 5% carrier rate, whereas the rate is less than 1% in Hispanic and African American populations.
The genetic mutation itself cannot be prevented. However, the complications (blood clots) can be prevented through proactive management. This includes using compression stockings during travel, maintaining a healthy weight, and avoiding estrogen-based medications if a mutation is known to exist.
The diagnostic journey typically begins after a patient experiences an unexplained blood clot or if a close family member is diagnosed with the mutation.
During an exam, a healthcare provider will check for signs of DVT, such as swelling, warmth, and calf tenderness. They will also review family history for a pattern of early-age strokes, heart attacks, or venous thromboembolisms.
Diagnosis is confirmed when molecular genetic testing identifies a specific mutation (G1691A) in the F5 gene. Clinical criteria for testing often include a first venous clot before age 50 or a strong family history of thrombosis.
Healthcare providers must rule out other causes of hypercoagulability, such as:
The primary goals for managing Factor V Leiden are preventing the formation of new blood clots and treating existing clots to prevent complications like pulmonary embolism or post-thrombotic syndrome.
According to the American College of Chest Physicians (ACCP) guidelines, the initial treatment for an acute clot in a patient with Factor V Leiden is anticoagulation therapy. Most patients do not require lifelong medication unless they have had multiple clots or are homozygous. Talk to your healthcare provider about which approach is right for you.
In cases where anticoagulants are contraindicated or ineffective, an Inferior Vena Cava (IVC) filter may be surgically inserted. This device catches clots traveling from the legs before they reach the lungs.
Treatment for a first clot usually lasts 3 to 6 months. If the risk of recurrence is deemed high, indefinite anticoagulation may be recommended.
> Important: Talk to your healthcare provider about which approach is right for you.
While no specific diet cures Factor V Leiden, nutrition plays a role in management. If taking Vitamin K antagonists, it is vital to maintain a consistent intake of Vitamin K-rich foods (like spinach and kale), as sudden changes can affect medication efficacy. Research in the American Journal of Clinical Nutrition suggests that a heart-healthy diet helps maintain vascular integrity.
Regular movement is critical. For those with Factor V Leiden, avoiding long periods of immobility is the best defense. During long flights or car rides, perform 'ankle pumps' and walk every hour. Low-impact exercises like swimming and walking are highly recommended to improve circulation.
Elevating the legs during rest can help reduce swelling for those who have previously suffered from a DVT. Ensure adequate hydration, as dehydration can lead to thicker blood and increased clotting risk.
Living with a chronic genetic risk can cause anxiety. Mindfulness-based stress reduction (MBSR) has been shown to help patients manage the psychological burden of chronic conditions.
There is limited evidence that supplements like garlic, ginger, or ginkgo biloba prevent clots; furthermore, they can dangerously interact with prescribed anticoagulants. Always consult a physician before starting any herbal supplement.
Caregivers should encourage movement and monitor for signs of new clots. Help the patient maintain a medication schedule, as missing doses of anticoagulants can rapidly increase the risk of a thrombotic event.
The prognosis for individuals with Factor V Leiden is generally excellent. Most people with the mutation never develop a blood clot and have a normal life expectancy. According to the National Institutes of Health (NIH, 2023), with proper management and awareness of high-risk situations, the risk of fatal complications is very low.
Management involves 'situational prophylaxis.' This means taking extra precautions during surgery, pregnancy, or periods of immobility. Regular check-ups with a hematologist may be recommended for those with a history of clots.
Education is the most powerful tool. Patients who understand their risk factors and recognize early symptoms can live active, healthy lives without significant restrictions.
Contact your healthcare provider if you are planning surgery, becoming pregnant, or if you notice new, unexplained leg pain or swelling.
Exercise is not only safe but highly recommended for individuals with Factor V Leiden as it promotes healthy blood circulation. Activities like walking, swimming, and cycling help prevent blood from pooling in the legs, which reduces the risk of clot formation. However, if you are currently taking anticoagulant medication, you should avoid contact sports or activities with a high risk of falling, such as skiing or mountain biking, due to the increased risk of internal bleeding. Always consult your doctor before starting a new, vigorous exercise regimen. Staying hydrated during physical activity is also essential to maintain proper blood viscosity.
Factor V Leiden can increase the risk of blood clots in the placenta or the mother's legs during pregnancy and the postpartum period. While most women with the mutation have successful pregnancies, there is a slightly higher risk of complications like preeclampsia, placental abruption, or pregnancy loss. Healthcare providers often monitor these pregnancies more closely and may prescribe heparin injections to prevent clots. If you have the mutation and are planning a pregnancy, it is vital to consult with a maternal-fetal medicine specialist. Proactive management significantly reduces the risks for both the mother and the baby.
In most cases, Factor V Leiden is not considered a disability because it does not typically prevent a person from performing standard work or daily activities. However, if a person develops severe complications, such as chronic post-thrombotic syndrome or permanent lung damage from a pulmonary embolism, they may qualify for certain accommodations. Most individuals can manage the condition with minor lifestyle adjustments and situational awareness. Whether it qualifies as a legal disability depends on the severity of the symptoms and the specific laws of your region. Discuss your specific physical limitations with your employer or a legal professional if necessary.
There are no specific foods that you must avoid simply because you have the Factor V Leiden mutation. However, if your treatment involves Vitamin K antagonists (like warfarin), you must maintain a very consistent intake of Vitamin K-rich foods like leafy greens. Large fluctuations in Vitamin K can make your medication less effective or increase the risk of bleeding. It is also wise to limit alcohol consumption, as it can affect liver function and blood clotting. Staying well-hydrated is the most important dietary factor for preventing clots. Always talk to your doctor or a dietitian about how your diet interacts with your specific treatment plan.