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Genetic and Rare Diseases Information Center (GARD)

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Factor V deficiency

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Your Question

I would like information on factor V deficiency, including treatment and the location of treatment centers.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is factor V deficiency?

Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V.[1] The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe.[1] Factor V deficiency is inherited in an autosomal recessive manner,[2] which means that both copies of the F5 gene in each cell have mutations.
Last updated: 7/22/2013

What are the signs and symptoms of factor V deficiency?

The symptoms of factor V deficiency may include:[1]
  • Bleeding into the skin
  • Excessive bruising
  • Nose bleeds
  • Bleeding of the gums
  • Excessive menstrual bleeding
  • Prolonged or excessive loss of blood with surgery or trauma
  • Umbilical stump bleeding
Last updated: 3/3/2010

What causes factor V deficiency?

Factor V deficiency is caused by mutations in the F5 gene that prevent the production of a functional factor V protein or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally.[3]
Last updated: 3/3/2010

How is factor V deficiency treated?

Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery.[1]  Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist.
Last updated: 3/3/2010

Are there treatment centers for factor V deficiency in the United States?

The Centers for Disease Control and Prevention (CDC) lists treatment centers for hemophilia, factor V deficiency, and other blood disorders in each state. These centers provide comprehensive health management and prevention services to individuals with blood disorders. Click on the CDC link to view the list of treatment centers.
Last updated: 7/22/2013