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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.

Congenital Afibrinogenemia and Hypofibrinogenemia

Fibrinogen is the protein that becomes the structure of the blood clot, a plug to stop bleeding, when bleeding occurs.

Congenital Afibrinogenemia

A person with congenital afibrinogenemia has very little or no fibrinogen. Patients with this condition can have serious bleeding problems and other complications.

Diagnosis

Patients with afibrinogenemia can be diagnosed shortly after birth. These patients usually have bleeding from the umbilical stump after it falls off in the first week or two of life. Otherwise patients can be diagnosed later in life with bleeding symptoms.

Symptoms of Congenital Afibrinogenemia:

  • Easy bruising
  • Nose and mouth bleeding
  • Excessive bleeding after minor injuries

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.

Treatment

Patients with congenital afibrinogenemia are treated with a product called Ristrap. This product comes from purified blood and contains fibrinogen. By replacing the missing fibrinogen a person is able to form a blood clot and stop bleeding.

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.


Factor II (2) Deficiency or Prothrombin Deficiency

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.

Symptoms

Patients with prothrombin deficiency have serious bleeding symptoms with bleeding occurring in almost any location, including bruises, nose bleeding and internal bleeding.

Treatment

For patients with this condition they can be treated with an infusion of factor concentrate like hemophilia and congenital afibrinogenemia. They type of clotting factor used to treat this condition is called a prothrombin complex concentrate or PCC. It is a purified blood product.


Factor V (5) Deficiency

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.

Treatment
The only way to correct a deficiency in factor V is with a blood product called fresh frozen plasma. There are not any factor concentrates that contain factor V.

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.


Factor VII (7) Deficiency

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.

Treatment

Factor VII deficiency can be treated with a synthetic (not from human blood) concentrate called Novoseven or recombinant factor VIIa.


Factor X (10) Deficiency

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.

Treatment

Factor X deficient patients can be treated with the same prothrombin complex concentrates that treat factor II deficiency.


Factor XI (11) Deficiency

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 XI deficiency occurs most commonly in people of Ashkenazi Jewish ancestry (Jews from Eastern Europe) but it can occur in people from any ethnic group.

Symptoms

Patients with factor XI deficiency only bleed if they have trauma or surgery.

Treatment

Patients only need to receive treatment when they have an injury or are going to have surgery. Treatment consists of a combination of fresh frozen plasma and aminocaproic acid or tranexamic acid. Factor XI concentrates are available in many parts of Europe but not in the United States.


Factor XIII (13) Deficiency

Factor XIII deficiency is extremely rare and is thought to occur in about 1 in 1 million people.
 
Symptoms 

This deficiency can lead to severe bleeding in the brain and unfortunately, bleeding in the brain is often the first symptom. In some cases, babies will bleed excessively from the umbilical stump and if this occurs it is very important to check for factor XIII deficiency.

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.

Treatment

Treatment consists of a purified blood product called Corifact. Factor XIII lasts a long time in the blood and this treatment only needs to be given once a month. A synthetic factor XIII is being developed and should be available in the next year or two.