Understanding Factor V Deficiency: Key Insights into Causes, Symptoms, and Diagnosis

What is Factor V Deficiency?

Factor V deficiency, sometimes referred to as Owren’s disease or parahemophilia, is an uncommon bleeding disorder characterized by impaired blood clotting following injury or surgery. It is distinct from the more prevalent factor V Leiden mutation, which leads to increased clotting tendencies.

Factor V, also called proaccelerin, is a vital protein produced in the liver that facilitates the conversion of prothrombin to thrombin—a crucial step in the coagulation cascade. Insufficient or dysfunctional factor V disrupts this process, resulting in blood that does not clot adequately to prevent excessive bleeding. The severity of this deficiency varies depending on the level of factor V activity in the body.

Sometimes, factor V deficiency occurs alongside factor VIII deficiency, amplifying bleeding complications. This combined condition is recognized as a separate disorder due to its complexity.

The Role of Factor V in Blood Clotting

Factor V is one of about thirteen clotting factors essential for normal hemostasis. Blood clotting unfolds in several stages:

1. Vasoconstriction: When a blood vessel is injured, it constricts to reduce blood flow and loss.
2. Platelet Plug Formation: Platelets adhere to the injury site and aggregate to form a soft plug, marking primary hemostasis.
3. Coagulation Cascade: A series of enzymatic reactions activate clotting factors, with factor V playing a pivotal role mid-pathway by aiding conversion of prothrombin into thrombin.
4. Fibrin Clot Formation: Thrombin stimulates fibrinogen to form fibrin, which stabilizes the platelet plug into a durable clot, sealing the wound (secondary hemostasis).
5. Clot Retraction and Healing: The fibrin clot contracts, pulling wound edges together to facilitate tissue repair, then gradually dissolves.

When factor V is deficient, secondary hemostasis is compromised, leading to prolonged bleeding episodes.

What Causes Factor V Deficiency?

This condition can be either inherited or acquired.

Inherited Factor V Deficiency: A rare genetic disorder caused by recessive mutations, requiring both parents to pass the gene for symptoms to manifest. It affects approximately one in a million individuals worldwide.

Acquired Factor V Deficiency: This form develops due to external factors such as certain medications, autoimmune responses, or underlying health issues.

Common conditions linked to acquired factor V deficiency include:

• Disseminated intravascular coagulation (DIC), a disorder causing widespread clotting and bleeding
• Liver diseases like cirrhosis
• Secondary fibrinolysis, where clots degrade prematurely due to illness or drugs
• Autoimmune diseases such as lupus
• Immune reactions following surgery or childbirth
• Certain cancers

Recognizing the Symptoms

Symptoms depend on the degree of factor V deficiency and individual susceptibility. Some people with low factor V levels may never experience bleeding issues, while others may face significant symptoms.

Severe deficiency symptoms often include:

• Excessive bleeding after childbirth, surgery, or trauma
• Unexplained bruising or bleeding beneath the skin
• Bleeding from the umbilical cord at birth
• Frequent nosebleeds and bleeding gums
• Heavy or prolonged menstrual bleeding
• Internal bleeding in organs like lungs or intestines

Diagnosing Factor V Deficiency

Diagnosis typically arises during blood coagulation testing before medical procedures. Key diagnostic tests include:

• Factor assays: Evaluate specific clotting factor performance, including factor V activity and quantity.
• Prothrombin Time (PT): Measures clotting efficiency influenced by factors I, II, V, VII, and X.
• Activated Partial Thromboplastin Time (aPTT): Assesses clotting involving multiple factors including V and VIII.
• Inhibitor screenings: Detect whether the immune system is interfering with clotting factors.

Additional tests help identify underlying causes contributing to the deficiency.

Managing Factor V Deficiency

Treatment primarily involves transfusions of fresh frozen plasma (FFP) and platelet concentrates, especially before surgeries or during bleeding crises. These interventions replenish deficient clotting factors and support effective clot formation.

Prognosis and Living with Factor V Deficiency

Compared to other bleeding disorders, factor V deficiency is generally manageable. Many individuals live normal lives with minimal symptoms and require treatment only during significant bleeding events or surgical procedures. While bleeding episodes may last longer than usual, proper medical care ensures safety and quality of life.

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