Rare Factor Deficiencies/ Rare Bleeding Disorders
The blood clotting system is made up of many different proteins that work together to help form a blood clot (a plug to stop bleeding) and prevent bleeding. Children who don’t have one of these clot forming proteins (factor) have a bleeding disorder. Common bleeding disorders are a deficiency in von Willebrand factor, a deficiency in factor VIII (8) and a deficiency in factor IX (9). Bleeding disorders caused by a lack of other clotting proteins are rare. These conditions are known as rare factor deficiencies or rare bleeding disorders.
Rare factor deficiencies include:
All of these disorders can be diagnosed with specialized laboratory testing. There are also many ways that these disorders can be treated. It is best for a person with a rare factor deficiency to be treated at a hemophilia treatment center where doctors specialize in these conditions.
Fibrinogen is the protein that becomes the structure of the blood clot, a plug to stop bleeding, when bleeding occurs.
Symptoms of Congenital Afibrinogenemia:
Patients with congenital afibrinogenemia can have spontaneous (meaning without injury) rupture of their spleen. This can cause severe bleeding and be life-threatening if it is not treated. Women with congenital afibrinogenemia can have difficulty maintaining a pregnancy and many of these women will have miscarriages.
Most patients will only need to receive this medication when they have an episode of bleeding. The medication can also be used to prevent bleeding if they are having surgery or are bleeding often.
This disorder is very rare. There have only been about 25 documented cases in the medical literature of congenital prothrombin deficiency. A person can also become deficient in prothrombin as an acquired condition, but this is also rare.
Factor V deficiency is a very rare factor deficiency. There are very few reports of congenital factor V deficiency.
This deficiency can be acquired usually as a result of receiving topical thrombin. Topical thrombin is something that surgeons may used to control major bleeding in surgeries such as heart surgery or orthopedic surgery. Factor V deficiency can lead to any type of bleeding and can be severe.
A platelet transfusion can also be used to boost factor V levels at the site of bleeding since platelets carry factor V. Platelets are very small cells that are an important part of the clotting process to stop bleeding.
This rare factor deficiency is more common. Factor VII deficiency is found in about 1 out of 100,000 people.
In the severest form of factor VII deficiency patients do not have any factor VII in their body. As a result they can have severe bleeding symptoms similar to a patient with hemophilia and can also result in internal bleeding.
This deficiency is rare and occurs in about 1 in 200,000-300,000 people.
Patients with the severest form of factor X deficiency, where there is no factor X in the body, can have bleeding in the brain. Bleeding can also occur in other areas of the body.
If a patient is diagnosed with severe factor X deficiency, it is best that they receive treatment regularly as prophylaxis to prevent the possibility of bleeding in the brain.
This is the most common factor deficiency, but because it is different from hemophilia, it is grouped with the rare factor deficiencies.
Who it Affects
Factor XIII deficiency is extremely rare and is thought to occur in about 1 in 1 million people.
Bleeding can also occur in other locations as well. Bruising and mucus membrane bleeding is quite common. Due to the risk for bleeding in the brain, patients should receive medication on a regular basis as a form of prevention.