What is Factor V Leiden Thrombophilia?

Written by Medicover Team and Medically Reviewed by Dr Khan Mohammed Taha Ali , Hematologists

Factor V Leiden Thrombophilia is a genetic blood clotting disorder where a mutation in the F5 gene increases the risk of forming abnormal clots. It mainly affects the veins, especially in the legs (deep vein thrombosis) and lungs (pulmonary embolism), due to reduced control over the body's natural clotting process.

What are the Symptoms of Factor V Leiden Thrombophilia?

Factor V Leiden Thrombophilia often shows no symptoms until a clot forms. Recognising early signs can help prevent serious complications. It's important to stay alert to both mild and severe symptoms that may signal abnormal clotting.

Common Symptoms

Swelling in one leg or arm (especially the calf or thigh)
Pain or tenderness in the affected limb
Sudden shortness of breath
Sharp chest pain, especially when breathing deeply
Dizziness or fainting

What are the Different Types of Factor V Leiden Thrombophilia?

Factor V Leiden Thrombophilia does not have multiple types or categories. However, it can be classified based on how the gene mutation is inherited.

Heterozygous Factor V Leiden: This means one copy of the mutated gene is inherited. It's the more common form and carries a moderate risk of developing blood clots.
Homozygous Factor V Leiden: This means two copies of the mutated gene are inherited, one from each parent. It is less common but increases the risk of clot formation significantly more than the heterozygous form.

What are the Common Causes and Risk Factors of Factor V Leiden Thrombophilia?

Factor V Leiden Thrombophilia is a hereditary blood clotting disorder that increases the risk of abnormal clots, especially in the veins. Understanding its causes and risk factors can help you take the right preventive steps and know when to seek medical advice.

Causes

Genetic mutation in the F5 gene: The primary cause is an inherited mutation in the Factor V gene, which affects how the body controls blood clotting.
Family history: Having one or both parents with the mutation increases the chance of inheritance.

Risk Factors

Being heterozygous or homozygous: Having one copy (heterozygous) or two copies (homozygous) of the mutated gene affects clotting risk severity.
Age over 50: Blood clot risks tend to rise with age.
Pregnancy: Hormonal changes and slower blood flow during pregnancy increase clotting chances.
Birth control pills or hormone therapy: Estrogen-containing medications can raise clotting risk.
Smoking: Tobacco use can damage blood vessels and increase clot formation.
Obesity: Extra weight places more pressure on veins and can slow blood flow.
Surgery or prolonged immobility: Being inactive for long periods (like during flights or bed rest) can trigger clot development.

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How is Factor V Leiden Thrombophilia Diagnosed?

Diagnosing Factor V Leiden Thrombophilia involves evaluating symptoms, medical history, and specific lab tests to confirm the presence of the gene mutation. Early diagnosis helps manage clotting risks and prevent complications like deep vein thrombosis or pulmonary embolism.

Diagnostic Procedures

Activated Protein C Resistance Test (APC Resistance): A blood test that checks how your clotting system responds to activated protein C. Resistance suggests a possible Factor V Leiden mutation.
Genetic Testing (DNA Analysis): Confirms the presence of the Factor V Leiden gene mutation. It determines if a person is heterozygous or homozygous for the condition.

Blood Clot Detection Tests

D-dimer test: Measures clot breakdown products in the blood.
Doppler Ultrasound: Used to detect deep vein clots, especially in the legs.
CT Pulmonary Angiography: If lung clots are suspected.
Family Screening: Testing is often advised if a first-degree relative has been diagnosed.

What are the Treatment Options for Factor V Leiden Thrombophilia?

Managing Factor V Leiden Thrombophilia focuses on preventing dangerous blood clots rather than curing the genetic mutation. Treatment depends on whether a person has had clots in the past, their risk level, and lifestyle factors like pregnancy, surgery, or extended travel.

Available Treatment Options

Anticoagulant Medications (Blood Thinners)

These are the mainstay of treatment for people who have had blood clots or are at high risk.

Warfarin A long-term oral blood thinner requiring regular INR monitoring.
Direct Oral Anticoagulants (DOACs), such as rivaroxaban or apixaban are often preferred for their ease of use.
Heparin Usually given via injection, used during pregnancy or before/after surgery.

Duration:

For a first clot, typically 3-6 months.
For recurring clots or high-risk cases, it may be lifelong.

Lifestyle-Based Preventive Measures

For those without a history of clots but with a positive diagnosis.

Compression stockings Help improve circulation, especially during travel or periods of inactivity.
Staying active and regular movement reduces clot risks.
Avoiding estrogen-based medications is essential for women with the mutation.

Surgical Considerations

IVC Filter Placement: In rare cases, a filter may be inserted into the inferior vena cava to prevent clots from reaching the lungs. This is only for individuals who cannot take blood thinners.

When to See a Doctor?

If you've been diagnosed with Factor V Leiden Thrombophilia or suspect you may have it, don't ignore early warning signs. Doctors can help manage the condition effectively and prevent serious complications like deep vein thrombosis (DVT) or pulmonary embolism.

Seek medical attention if you.

Notice unexplained leg swelling, pain, or redness lasting more than 24 hours.
Experience shortness of breath, chest pain, or rapid heart rate these could signal a blood clot in the lungs.
Have a family history of clotting disorders and develop symptoms, even if they seem mild.
Are planning pregnancy, starting hormone therapy, or recovering from surgery or injury.

High-risk individuals include

Women who are pregnant or taking birth control pills
People with obesity, a sedentary lifestyle, or smoking habits
Those with a history of recurrent blood clots
Individuals with the homozygous form of the mutation (two gene copies)

Why timely care matters?

Ignoring symptoms or delaying care increases the risk of serious, even life-threatening, complications. Doctors can run tests, prescribe blood thinners, and guide lifestyle changes to help you manage the condition safely.

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What Precautions Can Help Prevent Factor V Leiden Thrombophilia?

While you can't prevent the genetic mutation behind Factor V Leiden Thrombophilia, you can take practical steps to reduce your risk of developing blood clots. Prevention focuses on healthy habits, early screenings, and being alert to changes in your body, especially if you have a family history of clotting issues.

Prevention Tips

Stay Active: Long hours of sitting like during travel or desk work can slow blood flow. Take short walks, stretch your legs, and avoid crossing them for too long.
Maintain a Healthy Weight: Excess body weight increases pressure on your veins and raises the chance of clot formation.
Avoid Smoking: Smoking damages blood vessels and thickens blood, making clots more likely.
Use Hormones Cautiously: If you're considering birth control pills or hormone therapy, consult a doctor first, especially if you carry the gene.
Stay Hydrated: Good hydration keeps your blood thinner and moving smoothly through your veins.
Regular Screenings: If you have a personal or family history of clotting problems, ask your doctor about genetic testing or blood clot risk assessments.

Possible Complications if Left Untreated

Deep Vein Thrombosis (DVT): Clots in the leg veins that can cause swelling and pain.
Pulmonary Embolism (PE): A life-threatening clot that travels to the lungs.
Chronic Venous Insufficiency: Poor blood flow in the legs leading to swelling and skin changes.
Pregnancy Complications: Miscarriages, preeclampsia, or placental issues may occur if precautions aren't taken.

Our Experience in Treating Factor V Leiden Thrombophilia

At Medicover Hospitals, we understand that living with Factor V Leiden Thrombophilia can be overwhelming.

That's why our care goes beyond just managing symptoms; we listen, guide, and support every individual with a treatment approach.

Our team of dedicated haematologists, nurses, and counsellors works closely with each person to ensure timely diagnosis, safe anticoagulation therapy, and long-term health planning.

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