Hematology and Oncology
Factor V deficiency is a rare bleeding disorder in which the normal clotting mechanism is impaired, which results in an increased risk of bleeding after an injury. This condition is also known as Owren’s disease or parahemophilia. Factor V is an essential protein. It is produced by your liver and is required to convert prothrombin into thrombin. This is necessary for normal clotting mechanism. If you lack factor V in your blood, your blood does not clot properly after an injury or surgery. The signs and symptoms of this condition can become apparent at an early age during childhood. If this condition is not diagnosed on time, it can lead to severe life-threatening complications.
The deficiency of clotting factor V can be inherited or acquired after birth. Some children are born with this deficiency due to mutations in the F5 gene, which is important for the production of factor V. Hereditary factor V deficiency is rare because it is a recessive disorder, which means that the mutated gene needs to be inherited from both parents. Those with only a single copy of the mutated F5 gene may have some clotting issues, but not enough to cause serious health issues.
Causes of acquired factor V deficiency include certain medical conditions, medications, and autoimmune reactions. Medical conditions that may affect factor V include disseminated intravascular coagulation (DIC), cirrhosis, and certain types of cancer. Autoimmune causes are very rare. In these cases, your immune system releases antibodies that attack factor V protein in your blood, leading to its inactivation. This type of condition only occurs if a person has an autoimmune disorder or their immune system has been triggered to release antibodies.
Factor V deficiency could be inherited, so the risk is higher if your parents had this condition. The mutated gene needs to be inherited from both the parents for this disease to appear. Acquired factor V deficiency is much rarer, but those with DIC, chronic liver diseases, and cancers may have a risk. People with autoimmune disorders such as systemic lupus erythematosus (SLE) also risk this condition because their immune system may attack the body’s own cells and proteins.
Factor V deficiency affects almost 1 person in 1 million people. This condition is rare in the United States, and its incidence is higher in other countries such as Iran and South India.
Some people may experience a mild form of this disease, while others suffer from serious bleeding issues. If a severe deficiency of factor V occurs, you may experience symptoms that include abnormal bleeding after an injury or surgery, bleeding after giving birth, frequent nosebleeds, gum bleeding, increased bruises, and bleeding under the skin. Babies born with the genetic form of this condition may develop bleeding from the umbilical cord at birth. Affected females can experience prolonged or heavy menstrual bleeding. In rare cases, bleeding may occur inside the skull, lungs, gastrointestinal tract, or joint spaces.
Your doctor will require your history to determine whether this condition has been inherited or acquired. A brief physical examination will indicate bruises and other associated symptoms. The conformational diagnosis of this condition is made on the basis of multiple blood tests. These include factor assays, factor V assay, prothrombin time (PT), activated partial prothrombin time (aPTT), and antibody test for factor V. Factor V assay can indicate the amount of factor V in your blood and its efficiency in the clotting mechanism. If you have developed any complications of this disease, such as pulmonary hemorrhage or gastrointestinal bleeding, your doctor may require other specific tests such as ultrasound, CT scan, MRI, endoscopy, etc., to visualize the extent of the damage.
Factor V deficiency needs to be differentiated from a few other conditions with similar symptoms. These conditions include factor VII deficiency, combined factor V and VII deficiency, and platelet disorders. Differentiation can be made on the basis of specific diagnostic tests.
People with mild cases of factor V deficiency do not require any treatment. They are able to lead normal lives without serious health concerns. Treatment is only required if they suffer from a massive injury or undergo surgery. The recommended treatment option for factor V deficiency of infusion of fresh frozen plasma (FFP) and platelets. Fresh frozen plasma contains all the clotting factors required for normal clotting. If you have a serious condition, your doctor may recommend repeated transfusion to lower the risk of bleeding. Transfusion is also done as a precautionary measure before surgery in those suffering from this disease.
The prognosis of this condition is good with treatment. It is a manageable condition, and the risk of bleeding complications is less than in other bleeding disorders. People with this disease usually do not require treatment except in cases of injury or surgery. Women with this deficiency may have prolonged menstrual bleeding or may suffer from increased bleeding after giving birth.
It is difficult to prevent this condition because most of the cases of this condition are inherited. Acquired causes of this disease may also occur without any alarming signs. Early preventive measures can be taken if a person is born with this disease.
Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on April 19th, 2023.