What is the prevalence of Factor V Deficiency?

Factor V deficiency, also known as Owren's disease or parahemophilia, is a rare bleeding disorder with an estimated prevalence of approximately 1 in 1,000,000 individuals worldwide. Because many cases are mild or asymptomatic, the true prevalence of Factor V deficiency is likely higher than current diagnostic data suggests.

How common is Factor V deficiency?

Factor V deficiency is classified as a rare disease. While the estimated prevalence is 1 per million, the incidence of new cases is difficult to calculate precisely due to significant underdiagnosis. Many individuals with mild Factor V deficiency may never experience significant bleeding events, leading them to remain undiagnosed throughout their lives. At DiseaseMaps.org, we have seen 3 people with Factor V deficiency join our community, highlighting that while the condition is rare, patients are actively seeking connection and shared experiences.

Does Factor V deficiency affect genders or ethnicities differently?

Factor V deficiency is an autosomal recessive disorder, meaning it affects males and females with equal frequency. There is no specific geographic or ethnic predilection for the condition, though it may be more frequently identified in populations with higher rates of consanguinity due to the recessive nature of the inheritance pattern.

What is the age of onset for Factor V deficiency?

Symptoms of Factor V deficiency can appear at any age, though it is often diagnosed in childhood when a child experiences unusual bruising or prolonged bleeding after minor injury or surgery. The clinical presentation varies greatly, and age of onset often depends on the severity of the deficiency:

• Severe cases: Often identified in early childhood through severe mucosal bleeding or intracranial hemorrhage.


• Mild to moderate cases: May not be discovered until late adolescence or adulthood, typically following a hemostatic challenge like dental extraction, surgery, or trauma.

Why is accurate data for Factor V deficiency challenging to obtain?

Collecting precise epidemiological data for Factor V deficiency remains difficult for several reasons:

1. The high frequency of asymptomatic or very mild phenotypes.


2. Lack of standardized screening in routine coagulation panels.


3. Potential misdiagnosis with other clotting factor deficiencies.

Next steps

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


• Request a genetic counseling referral if you are planning a family to understand the risk of inheritance.


• Join the DiseaseMaps.org community to connect with others living with Factor V deficiency.

Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider.

References

• Orphanet (ORPHA:333): Parahemophilia.


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


• OMIM (Online Mendelian Inheritance in Man): Factor V deficiency (#227400).


• World Federation of Hemophilia (WFH) Guidelines on Rare Bleeding Disorders.