Types of Bleeding Disorders and Factor Deficiencies

Types of Hemophilia and Bleeding Conditions

Clotting factors are specialized proteins circulating in the blood. These factors work together in a chain reaction to form clots. If even one of these factors is missing or deficient, clotting may be impaired.1

Hemophilia is perhaps the best-known clotting factor deficiency. Specifically, a deficiency of factor VIII results in hemophilia A, and a deficiency of factor IX leads to hemophilia B. And those affected by von Willebrand disease (vWD) may be deficient in von Willebrand factor (VWF), factor VIII, or have VWF that doesn't function properly.2 There are many other factor deficiencies, however, which are described below.

Von Willebrand Disease

Von Willebrand disease (vWD) is the most common type of bleeding disorder, affecting men and women equally. When a person has vWD, they have either a low level of the clotting factor, von Willebrand factor (VWF), in their blood or it doesn’t work the way it should during the clotting process. There are 3 types of vWD, based on the amount of VWF or if there are defects in the VWF.

Type 1 is considered the most common bleeding disorder and the symptoms are usually mild. It is characterized by having lower than normal levels of VWF. Someone with this type may also have low levels of the blood-clotting protein factor VIII.

With Type 2 vWD, the body produces normal levels of VWF; however, the factor doesn’t work properly. This type is further broken down into 4 subtypes (2A, 2B, 2M, and 2N), depending on the specific problem with a person’s VWF. It is important to know which subtype a person has, since treatment for each type may be different.

Type 3 vWD symptoms are typically severe. A person with this type of vWD has very little or no VWF, as well as low levels of factor VIII.

The Symptoms of von Willebrand Disease

Common symptoms include: frequent nosebleeds, easy bruising, and excessive bleeding during and after invasive procedures, such as surgery and dental procedures. Women with vWD tend to experience menorrhagia, heavy menstrual periods that last longer than average, and hemorrhaging after childbirth.

References

Facts about von Willebrand disease. Centers for Disease Control and Prevention website. https://www.cdc.gov/ncbddd/vwd/facts.html">https://www.cdc.gov/ncbddd/vwd/facts.html. Accessed January 11, 2017.

Von Willebrand disease. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Von-Willebrand-Disease. Accessed January 11, 2017.

This rare disorder, also known as fibrinogen deficiency, affects both platelets and clotting and is found in both males and females. The severity of this disorder is related to the amount of fibrinogen present. The complete absence of factor I, or afibrinogenemia, usually is discovered in newborns, due to bleeding from the umbilical cord, urinary tract, or central nervous system. The incidence of Factor I deficiency is estimated at 1 to 2 per million.

A variation of this disorder is called dysfibrinogenemia, in which people have normal levels of fibrinogen but their fibrinogen does not function properly.

The Symptoms of Factor I Deficiency

Common symptoms include: easy bruising, nose and mouth bleeds, and soft tissue bleeds. Joint and muscle bleeds are possible. Women may experience excessive menstrual bleeding.

Reference

Factor I Deficiency. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-I. Accessed January 26, 2017.

This disorder, also known as prothrombin deficiency, is extremely rare and affects both males and females equally. The estimated rate of occurrence is 1 in 2,000,000 people. Factor II deficiency has been reported worldwide.

The Symptoms of Factor II Deficiency

The disorder may lead to excessive menstrual bleeding, severe bruising, hemorrhage after trauma, and muscle hematoma (a collection of pooled blood in the muscle).

Reference

Factor II Deficiency. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-II. Accessed January 26, 2017.

Factor V deficiency is also known as parahemophilia. First identified in Norway in 1943, this disorder has been estimated to occur in only about 1 in 1,000,000 people, and affects both men and women equally.

The Symptoms of Factor V Deficiency

Severe deep tissue bleeds are uncommon for people with this disorder, while others experience occasional nose bleeds, bruising, and excessive menstrual bleeding.

Reference

Factor V Deficiency. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-V. Accessed January 26, 2017.

This rare disorder, also known as proconvertin deficiency or Alexander's disease, is often diagnosed at birth because of bleeding into the brain as a result of birth trauma. The incidence of Factor VII deficiency is estimated to be 1 in 500,000 people, and affects men and women equally.

The Symptoms of Factor VII Deficiency

Circumcision may cause heavy bleeding. Women may experience excessive menstrual bleeding. Children and adults may experience spontaneous bleeding from the nose, gums, or gastrointestinal tract.

References

Factor VII Deficiency. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-VII. Accessed January 26, 2017.

Factor VII Deficiency. World Federation of Hemophilia. http://www1.wfh.org/publication/files/pdf-1337.pdf. Accessed January 26, 2017.

Factor VIII deficiency, or hemophilia A, is the most common type of hemophilia. This rare disorder affects approximately 1 in 5,000 males born in the United States. In about 30% of cases, there is no family history of the disorder and the disorder is the result of a spontaneous gene mutation.

The Symptoms of Factor VIII Deficiency

Hemophilia A can range from mild to moderate to severe and symptoms vary according to the severity of the disorder. In people with mild to moderate hemophilia, bleeding episodes tend to occur after injuries and some happen spontaneously without obvious cause. People with severe hemophilia may have bleeding following an injury or may have frequent spontaneous bleeding episodes, often into their joints and muscles.

Reference

Hemophilia A. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-A. Accessed January 26, 2017.

Factor IX deficiency is also known as hemophilia B or the Christmas disease after the first person to be diagnosed with the disorder in 1952. As the second most common type of hemophilia, it occurs in about 1 in 25,000 male births and affects about 3,300 individuals in the United States.

The Symptoms of Factor IX Deficiency

Hemophilia B can also be mild, moderate, or severe. Bleeding episodes are similar to those seen with hemophilia A ranging from injury related to spontaneous muscle or joint bleeds in more severe cases.

References

Hemophilia B. National Organization for Rare Disorders website. https://rarediseases.org/rare-diseases/hemophilia-b/. Accessed January 26, 2017.

Hemophilia A and B. Indiana Hemophilia and Thrombosis Center, Inc. website. http://www.ihtc.org/patient/blood-disorders/bleeding-disorders/hemophilia-a-and-b/. Accessed January 26, 2017.

Hemophilia B. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-B. Accessed January 26, 2017.

Factor X deficiency can also be known as Stuart-Prower factor deficiency, after the first two people identified with this bleeding disorder. This bleeding disorder has been estimated to occur in 1 in 500,000 to 1,000,000 people and affects men and women equally.

The Symptoms of Factor X Deficiency

People with this disorder can have mild to severe symptoms, including nose bleeds, frequent bruising, excessive menstrual bleeding, and gastrointestinal bleeding. Bleeding within the skull may be severe.

Reference

Factor X Deficiency. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-X. Accessed January 26, 2017.

This rare disorder is also known as hemophilia C. It occurs in approximately 1 in 100,000 people, although it is found more frequently among some ethnic groups (primarily those with Jewish ethnicity of eastern European descent). Also, unlike hemophilia A and B, the rates of this disorder are equal among men and women.

The Symptoms of Factor XI Deficiency

Symptoms are usually milder than with hemophilia A or B and include bruising, nose bleeds, blood in the urine, and prolonged bleeding after childbirth.

References

Factor XI Deficiency. National Hemophilia foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XI. Accessed January 26, 2017.

What is factor XI deficiency? World Federation of Hemophilia. http://www.wfh.org/en/page.aspx?pid=660. Accessed January 26, 2017.

Factor XII deficiency can also be known as Hageman factor deficiency, after the first patient diagnosed with the disorder. First identified in 1955, this disorder occurs in an estimated 1 in 1,000,000 people and affects men and women equally.

The Symptoms of Factor XII Deficiency

This disorder is unusual in that bleeding symptoms are rare. In fact, the opposite can sometimes occur. People with this disorder may be pre-disposed to thrombosis (unwanted clot), but that this relationship has not been clearly established.

Reference

Factor XII Deficiency. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XII. Accessed January 26, 2017.

In this rare disorder, also known as fibrin stabilization factor deficiency, the affected person lacks the necessary factor for proper clot formation and wound healing. Without factor XIII, a clot forms normally, but the clot breaks down and bleeding starts again. This disorder is another rare inherited factor deficiency, occurring in an estimated 1 in 5,000,000 people and affects men and women equally.

The Symptoms of Factor XIII Deficiency

Bleeding from the umbilical stump after birth has been reported. Severe patients experience severe bruising, prolonged bleeding after injury, and bleeding that is delayed for several hours or days after trauma. Bleeding into the brain, a life-threatening condition, can occur spontaneously without injury to the head.

Reference

Factor XIII Deficiency. National Hemophilia Foundation website. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XIII. Accessed January 26, 2017.

References

  1. What are rare clotting factor deficiencies? World Federation of Hemophilia website. http://www.wfh.org/en/page.aspx?pid=662. Accessed January 26, 2017.
  2. Facts about von Willebrand disease. Centers for Disease Control and Prevention website. https://www.cdc.gov/ncbddd/vwd/facts.html. Accessed January 11, 2017.

Types of Bleeding Disorders and Factor Deficiencies

Bleeding disorders, such as hemophilia and von Willebrand disease (vWD), are based on blood clotting factors that are missing or deficient.