What is Factor V Deficiency

Factor V deficiency, also known as Owren’s disease or parahemophilia, is a rare inherited bleeding disorder caused by a lack or dysfunction of the Factor V protein, which is essential for blood clotting. Individuals with Factor V deficiency may experience prolonged bleeding after injuries, surgeries, or dental procedures, though the severity of symptoms varies significantly among patients.

What causes Factor V deficiency?

Factor V deficiency occurs due to mutations in the F5 gene, which provides instructions for making the Factor V protein. This protein acts as a co-factor in the coagulation cascade, helping to convert fibrinogen into fibrin to form a stable blood clot. When Factor V levels are low, the clotting process is impaired, leading to a higher risk of bleeding. The condition is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene to manifest significant symptoms.

How common is Factor V deficiency?

Factor V deficiency is exceptionally rare, with an estimated prevalence of approximately 1 in 1,000,000 individuals in the general population. Because the condition is so rare, it is often underdiagnosed or misdiagnosed. Currently, 3 people with Factor V deficiency have joined the DiseaseMaps.org community to share their personal experiences and navigate life with this condition.

What are the primary symptoms?

The clinical presentation of Factor V deficiency is highly variable. While some individuals remain asymptomatic, others may experience:

• Easy bruising and frequent nosebleeds (epistaxis)


• Heavy or prolonged menstrual bleeding (menorrhagia)


• Bleeding that is difficult to stop following dental work or surgery


• Rare cases of intracranial hemorrhage or deep muscle hematomas

How does it differ from other clotting disorders?

Unlike hemophilia A or B, which are X-linked and primarily affect males, Factor V deficiency affects both males and females equally. It is also distinct from Factor V Leiden, which is a genetic mutation that causes excessive clotting (thrombosis), whereas Factor V deficiency results in an inability to clot effectively.

Next steps

• Consult a hematologist specializing in rare bleeding disorders for formal coagulation testing.


• Maintain a detailed medical record of your bleeding history to share with surgical teams.


• Connect with the DiseaseMaps.org community to share experiences with others living with this rare condition.


• Request a referral to a clinical geneticist to discuss inheritance patterns and family testing.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Factor V Deficiency.


• Orphanet: Factor V deficiency (ORPHA:28030).


• Online Mendelian Inheritance in Man (OMIM): Parahemophilia (Entry #227400).


• National Hemophilia Foundation: Rare Bleeding Disorders Overview.