This is an inherited bleeding disorder that is the result the problem with the factor V which affects the clotting reaction. When the blood vessels break, the clotting process stops the blood vessels from bleeding by the assembly of various components that plug the site of blood leakage. In individuals with this condition, the blood clot does not effectively form. The coagulation factors are essential in creating the permanent clog. These affected individuals usually have less than 10 percent of the normal levels of coagulation factor V and the severe cases may have less than 1 percent resulting in severe episodes of bleeding. The symptoms of this condition can develop at any age though the severe form is more apparent in childhood. This rare condition is estimated to affect one in a million individuals and only around one hundred and fifty cases are reported internationally.
Causes
This condition is generally caused as the result of a mutation in the gene F5 which is important for the production of a protein known as coagulation factor V. This is essential in the process of blood clots. The mutation in the gene either prevents the production of the coagulation factor V or reduces the quantity in the blood stream. This condition is inherited in an autosomal recessive pattern where both the copies of the F5 gene in each cell are defective. Individuals with a single mutation of this gene tend to have a mild bleeding condition that usually does not present any health problems.
Symptoms
Although this is a mild condition presenting no symptoms, some of the individuals can bleed in the central nervous system early in their life. The common symptoms of factor V deficiency include nosebleeds, bleeding after surgery, easy bruising, bleeding in the mouth and heavy menstrual in women. Additional symptoms can include internal bleeding in the joint, stomach, inside the skull (intracranial hemorrhage) and in the lungs (pulmonary hemorrhage) which can be life threatening.
Diagnosis
The factor V deficiency is identified incidentally with routine coagulation blood tests before a surgery or if family history of this condition is evident. The diagnosis is confirmed through various tests such as the partial thromboplastin time (aPTT), thrombin clotting time (TCT) test and prothrombin time (PT) test which evaluates the duration it takes for a clot to form. As the factor V is evident in the platelets and the plasmas, the platelet function may also be affected.
Treatment
Treatment may only be required at the time of surgery and during severe bleeding episodes. This consists of fresh frozen plasma and platelet transfusions that contain the factor V. Women experiencing heavy or prolonged menstrual periods may be given hormonal contraceptives or intra-uterine devices.
References
http://www.hemophilia.ca/en/bleeding-disorders/other-factor-deficiencies/factor-v-deficiency/
https://www.wfh.org/en/page.aspx?pid=670
https://ghr.nlm.nih.gov/condition/factor-v-deficiency#inheritance
