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Rare Factor Deficiencies

Description

A number of rare bleeding disorders exist. People with these rare disorders will find specialized treatment at an HTC under the care of a specialty hematologist.

Because these deficiencies are so rare, there may be no standard treatment in many cases. So, it’s important to work closely with an experienced hematologist to find the most appropriate treatment.

Clotting factors are proteins in the blood that control bleeding. If any of the clotting factors is missing or not working properly, the normal steps leading to coagulation are blocked. When this happens, the blood clot does not form and the bleeding continues for longer than it should. A deficiency of any one of these clotting factors can cause a rare bleeding disorder.

Watch the video below to learn how blood clots form.

 

For more information on the treatment of bleeding disorders, go to Treatment.

Here is a brief overview of rare clotting factor deficiencies.

Factor I Deficiency

  • Description: factor I (1) deficiency is a term used to describe a group of rare inherited blood disorders caused by a deficiency in fibrinogen, another blood protein important in forming of a blood clot. Fibrinogen helps the body form a fibrin mesh around the clot to keep it firm while healing takes place. In people who have factor I (1) deficiency, the body may produce less fibrinogen than it should, no fibrinogen, or fibrinogen that doesn’t work properly
  • Symptoms: common symptoms include nosebleeds, easy bruising, heavy menstrual bleeding (called menorrhagia), muscle bleeds, joint bleeds, umbilical cord bleeding, bleeding in the mouth (for example, after dental work), and problems during pregnancy, such as miscarriage
  • Diagnosis: more than one type of blood test may be needed to diagnosis factor I (1) deficiency. These diagnostic tests are generally ordered and the test results interpreted by a hematologist at an HTC
  • Treatment: treatments for factor I (1) deficiency are made from human plasma and include fibrinogen concentrate, cryoprecipitate, and fresh frozen plasma

Factor II Deficiency

  • Description: factor II (2) deficiency is an inherited disorder caused by a problem with factor II (2) (called prothrombin). In this bleeding disorder, either the body is producing less prothrombin than it should or the prothrombin does not work properly
  • Symptoms: symptoms of factor II (2) deficiency differ from person to person. Common symptoms include nosebleeds, easy bruising, heavy menstrual bleeding (menorrhagia), bleeding into the joints, muscle bleeds, and bleeding in the mouth (for example, after dental work)
  • Diagnosis: factor II (2) deficiency is diagnosed through a variety of blood tests. These diagnostic tests are generally ordered and the test results interpreted by a hematologist at an HTC
  • Treatment: two treatments are available for factor II (2) deficiency, both of which are made from human plasma. These treatments are prothrombin complex concentrates and fresh frozen plasma. Birth control pills, intrauterine devices, or antifibrinolytic drugs may be given to women with factor II (2) deficiency to help control excessive menstrual bleeding (called menorrhagia)

Factor V Deficiency

  • Description: factor V (5) deficiency is an inherited disorder in which either the body produces an insufficient amount of factor V (5) or factor V (5) does not work properly
  • Symptoms: symptoms of factor V (5) deficiency are generally mild; in fact, some people may experience no symptoms at all. Children with a severe factor V (5) deficiency may bleed early in life. Common symptoms of factor V (5) deficiency include nosebleeds, easy bruising, heavy menstrual bleeding (called menorrhagia), and bleeding in the mouth (for example, after dental work)
  • Diagnosis: factor V (5) deficiency is diagnosed through a variety of blood tests. These diagnostic tests are generally ordered and the test results interpreted by a hematologist at an HTC
  • Treatment: treatment for factor V (5) deficiency is generally needed only for severe bleeds or before surgery. Fresh frozen plasma is the usual treatment. Sometimes platelet transfusions containing factor V (5) are given as treatment. Birth control pills, intrauterine devices, or antifibrinolytic drugs may be given to women with factor V (5) deficiency to control excessive menstrual bleeding (called menorrhagia)

Combined Factor V (5) and Factor Vlll (8) Deficiency

  • Description: combined factor V (5) and VIII (8) deficiency is an inherited disorder in which the amount of these two factors in the body is lower than normal. This combined deficiency is completely different from factor V (5) deficiency and factor VIII (8) deficiency
  • Symptoms: symptoms are generally mild and include skin bleeding, heavy menstrual bleeding (called menorrhagia), bleeding in the mouth (for example, after dental work), bleeding after circumcision, and abnormal bleeding during or after surgery, injury, or childbirth
  • Diagnosis: combined factor V (5) and factor VIII (8) deficiency is diagnosed by a variety of blood tests to determine the levels of these two factors. These tests are generally ordered and the test results interpreted by a hematologist at an HTC
  • Treatment: treatments for this combined deficiency include factor VIII (8) concentrate, fresh frozen plasma, and desmopressin acetate (DDAVP)

Factor Vll (7) Deficiency

  • Description: factor VII (7) deficiency is an inherited disorder in which either the body produces less factor VII (7) than it should or factor VII (7) does not work properly
  • Symptoms: the symptoms of factor VII (7) deficiency differ from person to person. Common symptoms include nosebleeds, easy bruising, heavy menstrual bleeding (called menorrhagia), bleeding in the mouth (for example, after dental work), bleeding in the head (newborns), and heavy bleeding after circumcision
  • Diagnosis: factor VII (7) deficiency is diagnosed by a variety of blood tests. These diagnostic tests are generally ordered and the test results interpreted by a hematologist at an HTC
  • Treatment: treatments for factor VII (7) deficiency include recombinant VIIa (7a) concentrate, factor VII (7) concentrate, prothrombin complex concentrate containing factor VII (7), and fresh frozen plasma

Factor X (10) Deficiency

  • Description: factor X (10) deficiency is an inherited disorder in which the body produces less factor X (10) than it needs or factor X (10) does not work properly
  • Symptoms: people with severe factor X (10) deficiency can have serious bleeding episodes. Common symptoms include nosebleeds, easy bruising, bleeding in the gut or into the joints, muscle bleeds, umbilical cord bleeding, bleeding in the mouth after dental work, and bleeding during or after surgery or injury
  • Diagnosis: factor X (10) deficiency is diagnosed by a variety of blood tests. These diagnostic tests are generally ordered and the test results interpreted by a hematologist at an HTC
  • Treatment: factor X (10) deficiency is treated with either prothrombin complex concentrate containing factor X (10) or fresh frozen plasma

Factor XI (11) Deficiency

  • Description: factor XI (11) deficiency is an inherited disorder in which the body produces less factor XI (11) than it should or factor XI does not work properly. Factor XI (11) deficiency is also known as hemophilia C and is the most common of the rare bleeding disorders and the second most common bleeding disorder affecting women after VWD
  • Symptoms: symptoms of factor XI (11) deficiency can vary widely, even within a family, which can make it difficult to diagnose. Common symptoms include nosebleeds, easy bruising, heavy menstrual bleeding (called menorrhagia), and abnormal bleeding during or after surgery, injury, or childbirth
  • Diagnosis: factor XI (11) deficiency is diagnosed by a variety of blood tests. These diagnostic tests are generally ordered and the test results interpreted by a hematologist at an HTC
  • Treatment: treatments for factor XI (11) deficiency include factor XI (11) concentrate, antifibrinolytic drugs, fibrin glue, and fresh frozen plasma. Birth control pills, intrauterine devices, or antifibrinolytic drugs may be given to women with factor XI (11) deficiency to control excessive menstrual bleeding (called menorrhagia)

Factor XIII (13) Deficiency

  • Description: factor XIII (13) deficiency is an inherited disorder in which either the body produces less factor XIII (13) than it should or factor XIII (13) does not work properly
  • Symptoms: most people with factor XIII (13) deficiency have symptoms from the time of birth, often bleeding from the umbilical cord. Symptoms may continue throughout life. Common symptoms include nosebleeds, easy bruising, bleeding into joints, bleeding into the brain and spinal cord, bleeding in the mouth (for example, after dental work), poor wound healing and scar formation, bleeding in soft tissue, problems during pregnancy such as miscarriage, bleeding after circumcision, and abnormal bleeding during or after injury or surgery
  • Diagnosis: factor XIII (13) deficiency is difficult to diagnose because standard blood clotting tests do not detect the deficiency. The high rate of bleeding at birth usually leads to an early diagnosis. A specialized testing laboratory, generally at an HTC, is most often used to conduct the tests to confirm factor XIII (13) deficiency
  • Treatment: treatment for factor XIII (13) deficiency includes factor XIII (13) concentrate, cryoprecipitate, and fresh frozen plasma. Birth control pills, intrauterine devices, or antifibrinolytic drugs may be given to women with factor XIII (13) deficiency to control excessive menstrual bleeding (called menorrhagia)