Combined factor V and factor VIII deficiency is an inherited bleeding disorder that is caused by low levels of factors V and VIII. Because the amount of these factors in the body is lower than normal, the clotting reaction is blocked prematurely and the blood clot does not form. The combined deficiency is completely separate from factor V deficiency and factor VIII deficiency.
Combined factor V and factor VIII deficiency are autosomal recessive disorders, which means that both parents must carry the defective gene in order to pass it on to their child. It also means that the disorder affects both males and females. The deficiency is very rare, but like all autosomal recessive disorders, it is found more frequently in areas of the world where marriage between close relatives is common. Most cases are found around the Mediterranean Sea, especially in Israel, Iran and Italy.
Normally the disorder is caused by a single gene defect that affects the body’s ability to transport factor V and factor VIII outside the cell and into the bloodstream and not by a problem with the gene for either factor.
The combination of factor V and factor VIII deficiency does not seem to cause more bleeding than if only one or the other of the factors were affected. The symptoms of combined factor V and factor VIII deficiency are generally mild.
- Skin bleeding
- Heavy or prolonged menstrual bleeding (menorrhagia)
- Bleeding in the mouth, particularly after dental surgery or tooth extraction
- Bleeding after circumcision
- Abnormal bleeding during or after injury, surgery, or childbirth
Other reported symptoms:
- Nosebleeds (epistaxis)
- Bleeding into joints (hemarthrosis)
- Muscle bleeds
Combined factor V and factor VIII deficiency are diagnosed by a variety of blood tests to determine if the levels of both factors are lower than normal. These tests should be performed by a specialist at a Comprehensive Care Centre.
There are three treatments available for combined factor V and factor VIII deficiency.
- Factor VIII concentrate
- Fresh Frozen Plasma (FFP)
Excessive menstrual bleeding in women with combined factor V and factor VIII deficiency may be controlled with hormonal contraceptives (birth control pills) or antifibrinolytic drugs.