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Factor V Deficiency - Causes, Symptoms, Diagnosis, and Treatment

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Factor V deficiency is a bleeding disorder that causes poor clotting following injury or surgery. Read on to learn more about it.

Medically reviewed by

Dr. Shaikh Sadaf

Published At November 22, 2022
Reviewed AtFebruary 24, 2023

What Is Clotting of Blood?

Clotting of blood is also known as coagulation. Within a few minutes of being shed, blood loses its mobility and transforms into a jelly-like material to form a clot. Blood clots form when particular parts of the blood thicken and form a semisolid mass. This approach can be triggered by an injury, but it can also occur within a healthy vascular system. The hormone thrombopoietin promotes platelet formation. Platelets are produced by bone stem cells. Blood platelets are also known as thrombocytes. Platelets perform an important part in hemostasis (formation of blood clots in the arteries), which is necessary for bleeding prevention. Blood coagulation happens due to a sequence of events.

What Are Clotting Factors?

Clotting factors are proteins found in the blood that help to regulate bleeding. When a blood vessel is damaged, the blood vessel walls contract, limiting the flow of blood to the affected region. The platelets then attach to the location of the damage and spread to halt the bleeding. Similarly, platelets produce a chemical signal that attracts more cells to the location, resulting in the formation of a platelet clog.

Many clotting factors work together on the surface of these activated platelets in a sequence of complicated chemical events (known as the coagulation cascade) to generate a fibrin clot. This fibrin clot aids in the stoppage of bleeding. Coagulation factors are normally found in the blood in an inactive state. When there is an injury, the coagulation cascade is triggered, and the coagulation factors are activated to create the blood clot.

What Is Factor V?

Factor V is sometimes referred to as proaccelerin and labile factor. It is a coagulation system protein. Unlike most other coagulation factors, it is not enzymatically active but rather acts as a cofactor. This implies that the protein circulates in circulation in an inactive state until the coagulation system is triggered by a blood vessel lesion. Deficiency increases the risk of bleeding, whereas other mutations increase the risk of thrombosis. Factor V is produced in the liver.

What Is Factor V Deficiency?

Factor V deficiency, often known as Owren's disease, is one of the rarest hematological disorders. This disease causes either prolonged or slower blood clotting following an injury or surgical operation. Hematological disorders are those that only affect the blood.

Proaccelerin is another name for this protein. The liver produces proaccelerin. This protein aids in the transformation of prothrombin to thrombin. This conversion is a necessary step in the blood clotting process. However, if there is insufficient factor V, the blood will clot very slowly. Paul Owren, a well-known and respected medical practitioner, described factor V deficiency or Owren's illness. As a result, this sickness is known as Owren's disease.

This condition's signs and symptoms can appear at any age, though the most severe instances appear in childhood. Individuals who are severely impacted are more likely to experience life-threatening bleeding inside the brain (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal system.

Is Factor V Deficiency Same As Factor V Leiden?

There is a difference between factor V deficiency and factor V Leiden mutation, which causes excessive blood clotting. Factor V deficiency and factor V Leiden are two distinct diseases. Factor V Leiden thrombophilia is another name for factor V Leiden. Factor V Leiden, unlike factor V deficiency disorder, can only be inherited, not acquired.

Furthermore, factor V Deficiency causes a person to be unable to get their blood clotted. People with factor V Leiden, on the other hand, have increased blood clotting, which is known as hypercoagulability. People who have factor V Leiden are at an extremely high risk of having massive and abnormal blood clots, which can lead to stroke or heart attack.

What Are the Causes of Factor V Deficiency?

Factor V deficiency can be inherited or acquired postnatally. Factor V deficiency is uncommon. It is caused by a recessive gene, which means that individuals must inherit the gene from both parents in order to exhibit symptoms. Certain drugs, underlying medical disorders, or an autoimmune reaction can all induce acquired factor V deficiency. Factor V may be affected by the following conditions:

  • Disseminated intravascular coagulation (DIC) is a disorder caused by hyperactive clotting proteins that generate tiny blood clots and profuse bleeding.

  • Secondary fibrinolysis occurs when clots break down as a result of drugs or medical conditions.

  • Autoimmune responses that occur as a result of surgery or delivery.

  • Cirrhosis of the liver and hepatitis C and B can all induce factor V deficiency or Owren's disease.

  • Lupus, amyloidosis, Kawasaki illness, and a variety of other autoimmune disorders are examples of autoimmune diseases.

  • Several kinds of cancer can cause factor V deficiency, often known as Owren's disease.

What Are the Signs and Symptoms of Factor V Deficiency?

Factor V deficiency generally causes minor symptoms. The symptoms of factor V deficiency differ according to the quantity of factor V in the body. The amounts required to elicit symptoms vary depending on the individual. Symptoms of severe factor V deficiency include:

  • Unusual bleeding beneath the skin.

  • Umbilical cord bleeding.

  • Abnormal bleeding following an injury.

  • Bleeding within organs such as the lungs or the digestive tract.

  • Abnormal bleeding post-surgery and afterbirth.

  • Bleeding gums.

  • Nasal hemorrhage.

  • Easily bruised.

  • Prolonged and intense menstruation.

How to Diagnose Factor V Deficiency?

People with factor V deficiency are diagnosed when the medical practitioner orders some tests. Usually, patients will be requested to do a series of tests. Factor V deficiency, or Owren's illness, is diagnosed with tests such as the activated partial thromboplastin time test (aPTT) (a screening test that assesses a person's capacity to produce blood clots that are appropriate in size), the thrombin clotting time test (TCT) (a test that detects congenital and acquired fibrinogen deficiencies), and the prothrombin time test (PT) (a procedure to measure blood clotting). The factor V assay is used to confirm the final diagnosis of factor V deficiency.

How to Treat Factor V Deficiency?

Therapy must begin promptly when an individual is diagnosed with severe factor V deficiency.

  • Preventive Therapy- It means either a course of action to treat an uninfected person to avoid infection or a course of action to treat an infected individual to avoid disease. People with moderate factor V deficiency or Owren's illness frequently require it.

  • Therapeutic Therapy- It is the care and treatment of a patient to treat and prevent illness, reduce pain from an injury, or both. Desmopressin, a nasal spray used before surgery, and dental treatments, is a typical therapeutic choice for this condition.

  • Fresh Frozen Plasma (FFP)- It is a blood product created from whole blood's liquid component. Low blood clotting factors or other blood protein levels are conditions it is used to treat.

Conclusion

Factor V deficiency is a rare bleeding condition that causes poor clotting following an accident or surgery. This deficiency shows mild signs and symptoms. They are different from the factor V Leiden mutation. When compared to other bleeding conditions, factor V deficiency is rather controllable. Many people may tolerate modest amounts of factor V without experiencing any effects. People with this syndrome frequently require therapy only after surgery or a severe accident. The overall prognosis is favorable if therapy for such a condition is started on time.

Dr. Shaikh Sadaf
Dr. Shaikh Sadaf

Endocrinology

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