Rare Bleeding Disorders

Clotting factors are proteins in the blood that play a role in the control of bleeding. Any of these clotting factors have the potential to be abnormal, which may result in a bleeding disorder (excessive bleeding). Many different clotting factors work together to form a clot.

Clotting factor abnormalities that may lead to a bleeding disorder include:

Factor I deficiency (fibrinogen):  Factor I deficiency, also known as fibrinogen deficiency, affects both platelets and clotting. A complete lack of factor I is called afibrinogenemia, whereas factor I that does not function correctly is dysfibrinogenemia. It is usually diagnosed in newborns (both female and male) with bleeding from the umbilical cord, urinary tract or central nervous system. Easy bruising, mucosal bleeding (nose, mouth, eyes) and soft tissue bleeding are also common. Bleeding into the joints is uncommon.

Factor II deficiency (prothrombin): Factor II or prothrombin deficiency affects both females and males. Signs and symptoms vary with the level of factor II. Patients with lower levels may have bruising, nosebleeds, heavy menstrual periods, bleeding after delivery of a child or bleeding following surgery or injury. Joint bleeds are not usual but have been reported. Occasional muscle bleeds are not uncommon.

Factor V deficiency (parahemophilia, Owren disease): Factor V deficiency is also known as Owren disease or parahemophilia. The deficiency occurs in both females and males. When levels of factor V are low, blood clotting is slower. Bruising occurs with even minor injuries. Nosebleeds and heavy menstrual periods are common. The first sign of this deficiency may be bleeding following surgery. Joint bleeds may also be seen in people with very low levels of factor V.

Factor VII deficiency (Alexander disease): Factor VII can cause bleeding in patients with factor levels less than 1 percent (normal is greater than 50 percent). Severely affected people have bleeding from mucous membranes, nasal passages, bladder, stomach and intestines, skin, muscle or inside the head. Joint bleeding is rare but may be seen in severely affected individuals.

Factor X deficiency (Stuart-Prower disease): Factor X is extremely rare. Patients with mild disease seldom have bleeding, although they may experience bleeding with injury or surgery. Persons with severe disease may experience bleeding episodes similar to hemophilia A (factor VIII deficiency).

Factor XI deficiency (hemophilia C): Factor XI deficiency affects both males and females. It occurs most often in Jews of Eastern European ancestry, particularly Ashkenazi Jews, and is seen only rarely in other ethnic groups. The majority of people with factor XI deficiency have no bleeding or only mild bleeding manifestations except with trauma or surgery. Nose bleeds, bruising and bleeding after dental extractions may occur. Joint bleeding is very uncommon.

Factor XII deficiency (Hageman factor deficiency): Factor XII deficiency is a rare inherited disorder that affects both males and females equally. Factor XII levels are normally lower in patients of Asian descent. There is no bleeding expected with factor XII deficiency, even with major surgical procedures, so treatment is not usually required.

Factor XIII deficiency: Factor XIII deficiency affects both males and females. Factor XIII is responsible for clot stability, which is necessary for wound healing. With factor XIII deficiency, a clot forms, but within hours or days the clot breaks down and bleeding starts again. This can lead to poor wound healing and unusual scars. The bleeding associated with factor XIII deficiency is usually with injury. Common characteristics include bruising and soft tissue bleeding, which can lead to pseudotumors (large swellings due to accumulation of blood). There is a high incidence of head bleeding with little or no injury in severely affected individuals. Surgical bleeding may be immediate or delayed. Bleeding into the joints does not occur, but bleeding around the joints is more common.