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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Factor V deficiency


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Overview

What is factor V deficiency?

What are the signs and symptoms of factor V deficiency?

What causes factor V deficiency?

How is factor V deficiency treated?

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

References
  1. Matsui W. Factor V deficiency. MedlinePlus Web site. May 3, 2006; http://www.nlm.nih.gov/medlineplus/ency/article/000550.htm. Accessed 3/24/2008.
  2. Factor V deficiency. National Hemophilia Foundation Web site. http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=186&contentid=409&rptname=bleeding. Accessed 3/24/2008.
  3. F5. Genetics Home Reference Web site. July 2007; http://ghr.nlm.nih.gov/gene=f5. Accessed 3/24/2008.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.