What Is Clotting Factor V Leiden?
Factor V Leiden is a type of blood coagulation disorder that usually increases the risk of dangerous blood clots in the legs or the lungs. It is a common inherited blood clotting disorder passed down within biologically related families. People diagnosed with factor V Leiden have a mutation in their blood clotting factor V gene. This gene controls the synthesis of factor V, a protein that helps the blood clot when required after an injury. Mutation in the factor V Leiden gene alters the structure of the protein. This alteration in the protein structure causes it to resist other proteins that prevent excessive clotting. As a result, the blood may clot more readily than it should, leading to fatal consequences and serious complications. The incidence of factor V Leiden depends largely on ethnicity. It is more frequently seen among white people in the United States and Europe than black people.
How Does Factor V Leiden Affect the Body?
Factor V Leiden can lead to the development of the following complications in the body:
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Deep Vein Thrombosis (DVT): The formation of blood clots in the deep veins of the upper and lower extremities is called deep vein thrombosis. Factor V Leiden is strongly associated with deep vein thrombosis. It has been discovered that up to one in five people who develop deep vein thrombosis for the first time exhibit mutation in factor V Leiden.
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Pulmonary Embolism (PE): When the blood clot travels through the bloodstream to one of the lungs of the patients, it can lead to pulmonary embolism. Factor V Leiden is not strongly associated with pulmonary embolism, but the risk is still high.
However, it is not necessary that people affected with factor V Leiden will always develop deep vein thrombosis or pulmonary embolism. Most people do not develop such abnormal blood clots. However, this clotting disorder can raise the risk of developing these complications compared to people not affected by the disorder.
If a person is affected by this disorder, he or she may experience the following:
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Multiple episodes of deep vein thrombosis or pulmonary embolism before 50 years.
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Blood clots in rarely affected veins, like those in the liver, kidneys, intestines, or brain.
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Development of pulmonary embolism or deep vein thrombosis during or post pregnancy.
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Abnormal clot formation soon after taking birth control pills or hormonal therapy.
However, Factor V Leiden does not increase the risk of heart attacks, ischemic strokes, or blood clots formed in the arteries of the legs.
What Is the Cause of Factor V Leiden?
Gene mutation (alteration) causes factor V Leiden. People affected with this condition have a genetic mutation in the coagulation factor V. This gene is responsible for carrying instructions to the body to properly synthesize the protein factor V. It is an autosomal dominant genetic disorder.
What Are the Risk Factors?
The person is at risk in the following situations;
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If any one of the parents carries a copy of the mutated factor V gene.
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Additional genetic blood coagulation disorders.
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Recent surgery.
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Taking hormone-based therapies.
What Are the Clinical Symptoms of Factor V Leiden?
The hereditary condition does not cause any symptoms on its own. However, some people with this disorder develop dangerous blood clots in the legs or lungs.
Clinical symptoms of deep vein thrombosis include:
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Swollen and inflamed arms or legs.
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Pain in the legs and arms.
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Larger veins than normal near the surface of the skin.
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Pain in the belly if the veins of the belly are affected.
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Severe headache.
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Seizures if blood clots affect the veins of the brain.
Clinical symptoms of a pulmonary embolism include:
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Sudden breathlessness.
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Sharp pain in the chest that worsens on sneezing or coughing.
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Wheezing (sharp whistling sound).
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Rapid heartbeat.
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Anxiety.
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Lightheadedness.
How Is Factor V Leiden Diagnosed?
Blood tests are required to diagnose this disorder. The healthcare provider may suspect factor V Leiden if the patient has a history of pulmonary thromboembolism. He may also suspect this disorder if his family members have a history of blood clot formation. The following tests can be ordered;
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Activated Protein C Blood Test: This is a screening test for coagulation factors to check if the blood resists activated protein C (a protein used to prevent factor V from overperforming).
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Genetic Tests: If the patient’s blood is resistant to activated protein C, the doctor can order a genetic test to check the mutation in the F5 gene for the coagulation factor V Leiden.
How Is Factor V Leiden Treated?
There is no specific cure for factor V Leiden mutation. Treatment with blood thinners (anticoagulants) is necessary if a person is diagnosed with deep vein thrombosis or pulmonary embolism. The treatment should be started as soon as possible. The patient may even require hospitalization, depending on the severity of the symptoms.
Individuals with factor V Leiden who never experienced blood clots should not be prescribed anticoagulants.
What Is the Major Difference Between Factor V and Factor V Leiden?
The production and synthesis of factor V are controlled by the F5 gene. Factor V is mainly responsible to help in blood clotting, particularly after an injury. The genetic mutation in the factor V Leiden alters the structure of this protein component. This alteration in the protein structure causes it to resist other clotting factors that help in excessive coagulation.
What to Avoid With Factor V Leiden?
The patient should avoid the following:
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Chronic smoking.
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Tobacco use.
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Long sitting periods.
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Excessive alcohol consumption.
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Birth control pills consumption or hormone therapy to control symptoms of menopause.
Conclusion
Factor V Leiden is a hereditary blood clotting disorder. If a patient develops serious symptoms of deep vein thrombosis and pulmonary embolism, the patient should seek immediate medical help. The complications can be life-threatening. However, most people with this disorder do not develop a blood clot. Therefore, it is not a very high-risk factor. Patients having heterozygous factor V Leiden do not develop dangerous blood clots.
