Factor V deficiency

Other names:Parahemophilia; Owren disease; Bleeding disorder - factor V deficiency Factor V deficiency is an inherited bleeding disorder that prevents blood clots from forming properly.

Epidemiology

Factor V deficiency affects an estimated 1 in 1 million people. This condition is more common in countries such as Iran and southern India, where it occurs up to ten times more frequently than in western countries.

Cause

Factor V deficiency is usually caused by mutations in the F5 gene, which provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. F5 gene mutations that cause factor V deficiency prevent the production of functional coagulation factor V or severely reduce the amount of the protein in the bloodstream. People with this condition typically have less than 10 percent of normal levels of coagulation factor V in their blood; the most severely affected individuals have less than 1 percent. A reduced amount of functional coagulation factor V prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe.

Very rarely, a form of factor V deficiency is caused by abnormal antibodies that recognize coagulation factor V. Antibodies normally attach (bind) to specific foreign particles and germs, marking them for destruction, but the antibodies in this form of factor V deficiency attack a normal human protein, leading to its inactivation. These cases are called acquired factor V deficiency and usually occur in individuals who have been treated with substances that stimulate the production of anti-factor V antibodies, such as bovine thrombin used during surgical procedures. There is no known genetic cause for this form of the condition.

Inheritance

Autosomal recessive inheritance, a 25% chance

Factor V deficiency is inherited in an autosomal recessive pattern, which means both copies of the F5 gene in each cell have mutations. Individuals with a mutation in a single copy of the F5 gene have a reduced amount of coagulation factor V in their blood and can have mild bleeding problems, although most have no related health effects.

Symptoms

The symptoms of factor V deficiency may include:

• Bleeding into the skin
• Excessive bruising
• Nosebleeds
• Bleeding of the gums
• Excessive menstrual bleeding
• Prolonged or excessive loss of blood with surgery, trauma, or following childbirth
• Umbilical stump bleeding

In severe cases, bleeding into the skull, lungs, or gastrointestinal tract For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

30%-79% of people have these symptoms

• Epistaxis(Bloody nose)
• Joint hemorrhage(Bleeding within a joint)

5%-29% of people have these symptoms

• Bruising susceptibility(Bruise easily)
• Gingival bleeding(Bleeding gums)
• Hematuria(Blood in urine)
• Menorrhagia(Abnormally heavy bleeding during menstruation)
• Oral cavity bleeding(Bleeding from mouth)
• Persistent bleeding after trauma(Excessive bleeding after minor trauma)
• Post-partum hemorrhage(Bleeding post-delivery)
• Prolonged bleeding after dental extraction
• Prolonged bleeding after surgery(Excessive bleeding during surgery)
• Prolonged bleeding following circumcision
• Spontaneous hematomas

1%-4% of people have these symptoms

• Hematochezia(Rectal bleeding)
• Hemoptysis(Coughing up blood)
• Intracranial hemorrhage(Bleeding within the skull)
• Metrorrhagia(Abnormal uterus bleeding)

Diagnosis

Tests to detect factor V deficiency include:

• Factor V assay
• Blood clotting tests, including partial thromboplastin time (PTT) and prothrombin time
• Bleeding time

Treatment

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.

Prognosis

The outlook is good with diagnosis and proper treatment.

NIH genetic and rare disease info

• NIH info on Factor V deficiency

Factor V deficiency is a rare disease.

Factor V deficiency Resources
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