Factor V deficiency

What causes factor V deficiency?

Factor V deficiency is caused by mutations in the F5 gene. These mutations 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.

Last updated on 05-01-20

How is factor V deficiency inherited?

Factor V deficiency is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier

Last updated on 05-01-20

If my sibling has factor V deficiency, am I at an increased risk for it?

Hereditary factor V deficiency is caused by inheriting two copies of the F5 gene mutation. Each sibling of a person with hereditary factor V deficiency has a 1 in 4 chance of also inheriting two F5 gene mutations. People with two F5 gene mutations typically have factor V levels below 10 to 15% of normal. Signs and symptoms range from no bleeding to severe bleeding problems (nose and oral bleeding are the most commonly reported symptoms, as well as heavy periods for affected females). These symptoms can often be managed with antifibrinolytic drugs, (treatments such as oral contraceptives and progestin containing intrauterine devices can help manage heavy periods). Major bleeding episodes are also possible, and are typically treated with IV fresh frozen plasma (to bring factor V levels above 20%).

Each sibling of a person with factor V deficiency also has a 1 in 2 chance or 50% chance of inheriting only one F5 gene mutation. People with one mutation tend to have factor V levels above 15%. People with one mutation often have no symptoms, but may have mild bleeding problems.

Last updated on 05-01-20

Is factor V deficiency always inherited?

No. ****Hereditary factor V deficiency affects about 1 in 1 million people (with 10x higher rates in Iran and southern India) and is caused by mutations in the F5 gene. Factor V deficiency can also be acquired. Acquired factor V deficiency is estimated to be even rarer, affecting 0.09 to 0.29 per million person years. Acquired factor V deficiency may occur in association with exposure to bovine thrombin preparations, an underlying cancer, infection, liver disease, or autoimmune-type disease, or in association with surgical procedures or antibiotic treatment. In around 20% of cases, no cause/association is found.

Signs and symptoms of hereditary factor V deficiency and acquired factor V deficiency range from no symptoms to severe bleeding problems. While diagnostic testing to diagnose factor V deficiency is quite simple, it is not currently possible to predict if a person's symptoms will be mild or severe.

Last updated on 05-01-20

What is factor V deficiency?

Factor V deficiency is an inherited bleeding disorder that prevents blood clots from forming properly. This disorder is caused by mutations in the F5 gene, which leads to a deficiency of a protein called coagulation factor V. The reduced amount of factor V may lead to nosebleeds, easy bruising, and excessive bleeding following surgery or trauma. This condition is inherited in an autosomal recessive manner. Treatment includes fresh blood plasma or fresh frozen plasma infusions during bleeding episodes.

This condition should not be confused with Factor V Leiden thrombophilia, a genetic risk factor for blood clots.

Last updated on 05-01-20

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. During severe bleeding episodes, platelet concentrates may be needed. Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist.

Last updated on 05-01-20

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 on 05-01-20

Name: Canadian Hemophilia Society 301-666 Sherbrooke Street West Montreal, QC H3A IE7
Canada
Phone: +1-514-848-0503 Toll Free: 1-800-668-2686 Fax : +1-514-848-9661 Email: chs@hemophilia.ca Url: https://www.hemophilia.ca
Name: National Hemophilia Foundation 7 Penn Plaza, Suite 1204
New York, NY, 10001 , United States
Phone: +1-212-328-3700 Toll Free: 1-800-42-HANDI Fax : +1-212-328-3777 Email: handi@hemophilia.org Url: https://www.hemophilia.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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