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Treatment for Factor V Leiden, Stuck Between a Rock and a Hard Place: A Case Report and Review of Literature

Factor V Leiden remains the most common cause of hypercoagulable states and people with factor V Leiden thrombophilia have a significantly higher-than-average risk of developing venous thromboembolic disease than the general population... Management of factor V Leiden continues to be a challenge due to the fact that the current treatment regimen has not been able to effectively provide treatment without adverse effects. We remain hopeful that there will be continued research in this area and that newer and emerging treatments will help balance the risks and help us manage our patients more effectively.

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 Disorder Magnifies Blood Clot Risk

The disorder results from a mutation in the factor V gene that participates in forming clots in response to an injury, for example. Without two fully functional factor V genes, the body’s ability to put a brake on clot formation is inhibited. Normally, a molecule called activated protein C, or APC, prevents clots from becoming too large by inactivating coagulation factor V. But factor V Leiden impairs this protein’s ability to suppress the coagulation factor because it is longer lasting and stickier.

Articles of Interest

A Genetic Clotting Condition or Thrombophilia

You make a protein called factor V that helps your blood clot. However, if you have a DNA mutation in the gene used to make the factor V protein, you have the “factor V Leiden” mutation. The mutation was named after a city called Leiden, where they did research on the first family found to have the mutation. If you have the factor V Leiden mutation, you have an inherited thrombophilia or clotting disorder.

Current Knowledge on Factor V Leiden Mutation as a Risk Factor for Recurrent Venous Thromboembolism: A Systematic Review and Meta-Analysis

Summarizing all currently available high-quality epidemiological data, the risk of recurrent VTE was only moderately increased. This observation was consistent among various subgroups. Our data confirm that the presence of FVL mutation plays only a marginal role in the risk assessment for recurrent VTE. Efforts should be made to reduce the still very frequent determination in clinical practice.

Factor V Deficiency or Owren’s Disease: Causes, Symptoms, Treatment, Prevention, Prognosis, Complications

Factor V that becomes impaired can cause numerous issues with the health of the human blood. The two most common hematological diseases the impairment of Factor V causes are Factor V deficiency or Owren’s disease, and Factor V Leiden. Factor V Leiden is also known under its other name Factor V Leiden Thrombophilia.

Factor V Leiden for Kids

A children’s book about Factor V Leiden by John Puetz MD.

Factor V Leiden mutation causing thrombophilia

It has autosomal dominant inheritance and is the most common cause of inherited thrombophilia. FVL is the most prevalent thrombotic risk factor known in the Caucasian population (around 5%)

Factor V Leiden thrombophilia

Other names for this condition - APC resistance, Leiden type. Hereditary resistance to activated protein C.

Factor V Leiden Thrombophilia

Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep venous thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common.

What is factor V Leiden?

While factor V Leiden is completely normal in terms of its ability to prevent bleeding, the one amino acid difference makes factor V Leiden resistant to being degraded or inactivated by protein C and protein S. Consequently, factor V Leiden lingers in the circulation longer and, therefore, contributes to the formation of blood clots.

What is the history of Factor V Leiden?

Discovered in 1994, in Leiden Netherlands, this mutation is one of the most common genetic risk factors for venous thrombosis (blood clot), and is involved in 20-40% of all cases. Factor V Leiden induces a defect in the natural anti-coagulation system. Factor five is produced by the liver and circulates in the blood, generally inactive until there is a injury to a vessel wall, than specific proteins will be activated in response to the injury. Not everyone who gets blood clots will have FVL. There are many reason for any person to be at risk for clots, such as, fractures, hormone replacement therapy, surgery, birth control. Those with FVL can just have a greater risk.

Resources

Genome.gov

Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of the Caucasian (white) U.S. and European populations carry one copy of the factor V Leiden mutation, and about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other populations.

National Blood Clot Alliance

Factor V Leiden is a blood clotting disorder. It is not a disease. Factor V is a protein that is needed for blood to clot properly. Some people do not have the normal Factor V protein. Instead, they have an different form called factor V Leiden. This is caused by a change (mutation) in the gene for this protein. The different gene that makes the factor V Leiden protein is inherited from one or both parents. The factor V Leiden protein is harder to “turn off” than the normal factor V protein. This makes blood clots more likely to form, a condition called thrombophilia.