Factor V Deficiency

1. Disease Summary:

Factor V deficiency, also known as Owren's disease or parahemophilia, is a rare bleeding disorder characterized by a deficiency in coagulation factor V, which is essential for normal blood clotting. This condition can be inherited or acquired and manifests with symptoms ranging from minor mucosal bleeding to severe hemorrhagic events. Patients may experience bleeding from the gums, nosebleeds, easy bruising, and, in severe cases, life-threatening hemorrhages. The severity of symptoms can vary significantly among individuals, even within the same family.

2. Global Prevalence and Disease Burden:

Factor V deficiency is extremely rare, with an estimated prevalence of approximately 1 in 1,000,000 in the general population for the homozygous form (Asselta R, Peyvandi F, PMID: 19598066). Fewer than 200 cases have been documented worldwide, making it one of the rarest bleeding disorders. The burden of this disease is significant, as it can lead to recurrent bleeding episodes, which may require hospitalization and extensive medical care. The economic impact includes direct costs related to treatment and management of bleeding episodes, as well as indirect costs such as loss of productivity and quality of life for affected individuals and their families.

3. Unmet Medical Need:

Despite the existence of treatment options, there are several unmet medical needs for patients with factor V deficiency:

Lack of Specific Treatment Options: Currently, there are no specific factor V concentrates available for treatment. Patients primarily rely on fresh frozen plasma (FFP) for management, which is not always sufficient to prevent or control bleeding episodes. This reliance on FFP can lead to complications such as transfusion reactions and limited availability (Huang JN, Koerper MA, PMID: 19141156).
Inadequate Care Coordination: Many patients report feeling "forgotten" within the healthcare system due to a lack of coordinated care between general practitioners and specialized hemophilia treatment centers. This fragmentation can lead to delays in treatment and inadequate management of bleeding episodes (RSM, 2025).
Psychosocial Impact: The psychological burden of living with a rare bleeding disorder is significant. Patients often experience anxiety related to bleeding risks and the unpredictability of their condition. There is a need for better psychological support and resources for patients and their families (Living with Factor V Deficiency, MedicAlert Foundation).
Limited Awareness and Education: There is a general lack of awareness about factor V deficiency among healthcare providers, which can lead to misdiagnosis or delayed diagnosis. Increased education and training for healthcare professionals are necessary to improve recognition and management of this condition (Challenges in management of unusual acquired factor V deficiency, PMC6831250).

4. Current Treatment Options:

The primary treatment for factor V deficiency is the administration of fresh frozen plasma (FFP), which contains clotting factors, including factor V. However, there are several limitations to this approach:

Fresh Frozen Plasma (FFP): While FFP can provide temporary relief from bleeding, it is not a definitive treatment. The variability in factor V levels in FFP can lead to inconsistent therapeutic outcomes. Additionally, FFP must be matched for blood type and can carry risks of transfusion-related complications (Huang JN, Koerper MA, PMID: 19141156).
Antifibrinolytics: Medications such as tranexamic acid may be used to help control bleeding, particularly in cases of mucosal bleeding. However, these treatments do not address the underlying deficiency of factor V and are not effective for all patients (Chemaou A, Ayachi M, Benjelloun O, PMID: 23182898).
Supportive Care: Patients may require supportive measures, including platelet transfusions and immunosuppressive therapy in cases of acquired factor V deficiency with inhibitors. However, these approaches are often case-specific and lack standardized protocols (John ES, Patel MD, Hajdenberg J, PMID: 26346326).

5. Current Clinical Trials:

As of now, there are limited clinical trials specifically targeting factor V deficiency. Most research focuses on broader categories of bleeding disorders or the development of new hemostatic agents. Ongoing studies may explore the efficacy of novel therapies, including gene therapy and recombinant factor products, but specific trials for factor V deficiency remain scarce.

6. Additional Context:

The rarity of factor V deficiency poses challenges for research funding and the development of targeted therapies. Advocacy groups and patient organizations play a crucial role in raising awareness and supporting research initiatives. Collaboration between researchers, healthcare providers, and patient communities is essential to address the unmet needs and improve outcomes for individuals living with factor V deficiency.