Factor Deficiencies

What are factor deficiencies?

Factor deficiencies are bleeding disorders in which the blood does not clot properly. This means that you may bleed for longer after a cut, injury, or surgery. People with factor deficiencies do not bleed more or faster. But it may be harder to stop bleeding when you have a factor deficiency. 

Blood has special proteins called clotting factors. There are 13 different clotting factors. They work together to help blood cells stick together and form clots to help stop bleeding.

A factor deficiency occurs when a clotting factor is low, missing, or does not work correctly.  

Types of factor deficiencies include:

• Hemophilia
• Von Willebrand disease
• Other rare clotting disorders (such as Factor I, II, V, VII, X, XI, XII, and XIII deficiencies)

A factor deficiency can be inherited or run in families. This means it is passed down from parents to children. Sometimes, a person is the first one in their family to have the disorder.

Sometimes, factor deficiencies are caused by other health problems, such as liver disease, certain medicines, or problems with the immune system. These are called acquired factor deficiencies. 

Doctors use blood tests to check for factor deficiencies. These tests show if any clotting factors are missing, decreased, or not working properly. Your care provider may also ask about your family’s health history.

Treatments for factor deficiencies include factor replacement therapy, medicines to help blood clotting, and supportive care to prevent bleeding.   

With the right treatment, most people with factor deficiencies can lead active, healthy lives.

Symptoms of factor deficiencies

Symptoms of a factor deficiency vary depending on which clotting factor is missing and how much of it your body makes. Common signs and symptoms include:

• Easy bruising
• Nosebleeds that are frequent or hard to stop
• Bleeding for a long time after cuts, scrapes, dental work, or surgery 
• Bleeding into joints or muscles
• Blood in urine (pee) or stool (poop)
• Heavy menstrual bleeding: Menstrual periods that last more than 7 days, passing large clots, and having to change your pad or tampon more often than every 2 hours

If you notice these symptoms, talk to your health care provider right away. 

Diagnosis of factor deficiencies

Doctors diagnose factor deficiencies by:

• Asking about a personal and family history of bleeding
• Doing a physical exam
• Performing blood tests to check how well the blood forms clots and to measure the levels of different clotting factors
• Genetic tests are often done to find out if the disorder is inherited. 

Treatment of factor deficiencies

If your child is diagnosed with a factor deficiency, they will be treated by a hematologist, a doctor who specializes in treating blood disorders. People with factor deficiencies use a variety of treatments to stop or prevent bleeding depending on their diagnosis. 

Treatments may include:

• Clotting factor replacement therapy: Factor products replace the low or missing clotting factor. They are given in a vein through an IV.
• Non-factor replacement therapy: These are non-factor products that work to prevent bleeding in patients with factor deficiencies. They cannot be used to stop active bleeding. Examples of non-factor therapies include medications like emicizumab (HEMLIBRA®) or concizumab.
• Fresh frozen plasma: Plasma is the fluid portion of the blood and contains all of the clotting factors that are found in the blood. It is used for patients with bleeding disorders where there is not a specific factor concentrate available, such as Factor XI deficiency or Factor V deficiency. 
• Medicines to help the blood clot: Some medicines help the body use its own clotting factors to make your blood clot or works to help keep blood clots together. These include medications like DDAVP, Amicar®, and Lysteda®. 
• Supportive care to prevent or manage bleeding: Your care team can share tips to prevent and manage bleeding.
• Gene therapy: Scientists are studying new gene therapy treatments for some types of factor deficiencies.

Types of factor deficiencies

Hemophilia

Hemophilia types include Hemophilia A (Factor VIII deficiency) and Hemophilia B (Factor IX deficiency).

Hemophilia A is the most common type of hemophilia. It is caused by low levels of factor VIII (8). Hemophilia A accounts for about 80% (8 in 10) of all hemophilia cases. 

Hemophilia B is caused by low levels of factor IX (9). It is the second most common type of hemophilia. 

Hemophilia is usually inherited. It can be mild, moderate, or severe based on how much clotting factor is in the blood. In some cases, hemophilia may be life-threatening.

Signs and symptoms of hemophilia may include:

• Easy bruising
• Joint bleeding (painful, swollen joints) 
• Nosebleeds that are hard to stop
• Excessive bleeding after surgery or a dental procedure
• Heavy menstrual bleeding or long menstrual periods
• Muscle or soft tissue bleeding
• Blood in urine (pee) or stool (poop)
• Bleeding for a long time after minor cuts and scrapes
• Bruises that are large, unexplained, or in unusual places
• Unusual bleeding after vaccinations 
• Bleeding or bruising after minor trauma 

Doctors diagnose hemophilia with blood tests. They take a small sample of blood and check how well it clots. Tests to diagnose hemophilia include:

• Activated partial thromboplastin time (aPTT): This test checks how long it takes your blood to clot. 
• Prothrombin time (PT): This test also measures clotting time. It is usually normal in hemophilia.
• Clotting factor tests: These measure the amount or activity of specific clotting factors in the blood.  

Treatment for hemophilia includes factor replacement therapy and certain medicines.

Von Willebrand disease

In von Willebrand disease, a person has low levels of von Willebrand factor or it does not work well. There are 3 main types of von Willebrand disease: Types 1, 2, and 3. Von Willebrand disease is usually mild, but some people have more severe forms. 

Signs and symptoms of von Willebrand disease may include:

• Easy bruising
• Frequent nosebleeds
• Heavy menstrual bleeding or long menstrual periods
• Longer bleeding after an injury or medical procedure

In women, heavy menstrual bleeding is often the main sign of von Willebrand disease. But a woman with heavy periods does not always have the disorder.

Doctors diagnose von Willebrand disease with blood tests. They take a sample of blood and check how well it clots.

Tests to diagnose include:

• Complete blood count (CBC): A CBC test measures the number and size of the blood cells. 
• Platelet aggregation test: The test measures how well the platelets stick together to form clots.
• Activated partial thromboplastin time test (aPTT): This test checks how long it takes your blood to clot. 
• Von Willebrand factor antigen and multimers: These tests measure the amount and structure of von Willebrand factor in the blood.

Treatment may include a medicine called desmopressin or factor replacement therapy. 

Factor I (1) deficiency 

Factor I (1) deficiency is a term for a group of disorders caused by missing or low levels of fibrinogen or fibrinogen that does not work well. It is also called fibrinogen deficiency. Fibrinogen helps platelets stick together to form blood clots. 

Afibrinogenemia happens when there is almost no fibrinogen in the blood. It is very rare. It happens in 1–2 people per million.

Signs and symptoms of afibrinogenemia may include:

• Easy bruising
• Frequent nosebleeds
• Bleeding in the mouth and gums, especially after dental work
• Joint or muscle bleeding after injury
• Heavy bleeding with injury, surgery, or childbirth
• Bleeding problems at birth (umbilical cord bleeding or circumcision)
• Heavy menstrual bleeding or long menstrual periods
• Pregnancy problems (miscarriage, placental issues, heavy bleeding after delivery)
• Bleeding in the stomach, intestines, brain, or belly (rare)

Hypofibrinogenemia occurs when fibrinogen levels in the blood are low. Symptoms are similar to afibrinogenemia. The lower the fibrinogen level is, the more likely bleeding will occur.

Dysfibrinogenemia happens when there is a normal amount of fibrinogen, but it does not work well. Hypodysfibrinogenemia occurs when there is a low amount of fibrinogen, and it does not work well. 

Symptoms of dysfibrinogenemia and hypodysfibrinogenemia vary from person to person. There may be:

• No symptoms 
• Bleeding problems
• Blood clots in veins or arteries

Tests to diagnose factor 1 deficiency include: 

• Fibrinogen test: This test measures the amount of fibrinogen in the blood.
• Thrombin clotting test (TCT): This test helps doctors see how well the blood can clot. 
• Activated partial thromboplastin time (aPTT): This test checks how long it takes your blood to clot. 
• Prothrombin time (PT): This test also measures clotting time. 
• ROTEM test (thromboelastometry panel): This test checks to see how well a person’s blood can form clots and to help diagnose problems with fibrinogen. 

Many people with factor 1 deficiency do not need treatment.  

Factor II (2) deficiency 

Factor II (2) deficiency is caused by low levels of prothrombin. It is also called prothrombin deficiency. Prothrombin helps form thrombin, which helps form blood clots. Factor II deficiency is very rare. It happens in 1 in every 2 million people. Factor II deficiency sometimes occurs with other clotting factor deficiencies. 

In general, the lower the factor II level is, the more likely and severe the bleeding.

Signs and symptoms may include:

• Easy bruising
• Frequent nosebleeds
• Bleeding in the mouth and gums, especially after dental work
• Heavy menstrual bleeding or long menstrual periods
• Bleeding into joints or muscles
• Blood in urine (pee) or stool (poop)
• Heavy bleeding with injury, surgery, or childbirth
• Bleeding at birth (umbilical cord bleeding)
• Bleeding in the stomach or intestines
• Bleeding in the brain or spinal cord (rare)

Tests to diagnose factor II deficiency may include:

• Activated partial thromboplastin time (aPTT): This test checks how long it takes your blood to clot. 
• Prothrombin time (PT): This test also measures clotting time. 
• Clotting factor tests: These measure the amount or activity of specific clotting factors in the blood.  

Treatment may include prothrombin complex, a mixture of factor II and other clotting factors to boost the blood’s clotting ability. Another possible treatment is fresh frozen plasma to control bleeding. 

Factor V (5) deficiency

Factor V (5) deficiency is caused by problems with factor V. It is also called Owren disease, parahemophilia, labile factor deficiency, or proaccelerin deficiency. Factor 5 deficiency is very rare. It affects about 1 in 2 million people.

Most people with factor V deficiency have mild symptoms or no symptoms at all. But some children with a severe form may start bleeding when they are very young. 

Signs and symptoms may include: 

• Easy bruising
• Frequent nosebleeds
• Bleeding in the mouth and gums, especially after dental work
• Heavy menstrual bleeding
• Bleeding into joints, nervous system, or gut
• Heavy bleeding with injury, surgery, or childbirth
• Bleeding after medical procedures that cut the skin
• Bleeding with minor cuts or scrapes
• Bleeding in the brain or spinal cord early in life (rare)

Tests to diagnose factor V deficiency may include:  

• Prothrombin time (PT): This test measures clotting time. 
• Activated partial thromboplastin time (aPTT): This test checks how long it takes your blood to clot. 
• Clotting factor tests: These measure the amount or activity of specific clotting factors in the blood.  

Treatment for factor V deficiency helps the blood clot and prevents serious bleeding. It may include:

• Fresh frozen plasma: This is a blood product that has factor 5 and other clotting factors. 
• Platelet transfusion or platelet concentrate: In rare cases, doctors may give platelets, which also contain some factor V.

It is important to note that factor V deficiency is different from factor V Leiden Mutation, an inherited thrombophilia that increases the risk of blood clots, not bleeding. 

Factor VII (7) deficiency

Factor VII (7) deficiency happens when there is a problem with factor VII. Factor VII deficiency causes mild to severe bleeding problems. Factor VII deficiency may be inherited with other factor deficiencies. 

Signs and symptoms may include:

• Easy bruising
• Frequent nosebleeds
• Bleeding in the mouth and gums, especially after dental work
• Heavy menstrual bleeding 
• Bleeding into joints and muscles 
• Bleeding after medical procedures that cut the skin
• Bleeding at the head in newborns
• Bleeding in the stomach or intestines

Tests to diagnose a factor VII deficiency include: 

• Prothrombin time (PT): This test measures clotting time.
• Activated partial thromboplastin time (aPTT): This test checks how long it takes your blood to clot. 
• Clotting factor tests: These measure the amount or activity of specific clotting factors in the blood.

Treatment for severe bleeding may include factor VII replacement therapy or fresh frozen plasma.  

Factor X (10) deficiency

Factor X (10) deficiency happens because of a lack of factor X. Factor X is also called Stuart-Prower factor. Bleeding can range from mild to severe. Some patients with more severe bleeding must take medicine to try to prevent bleeding episodes. Factor X is sometimes inherited with other clotting disorders.

Signs and symptoms may include:

• Easy bruising
• Frequent nosebleeds
• Bleeding in the mouth and gums, especially after dental work
• Heavy menstrual bleeding
• Bleeding into joints and muscles
• Blood in urine (pee) or stool (poop)
• Bleeding after medical procedures that cut the skin
• Bleeding with small cuts and scrapes
• Bleeding in the stomach and intestines
• Bleeding after circumcision
• Heavy or prolonged bleeding after childbirth
• Miscarriage in the first trimester 
• Bleeding in the brain and spinal cord

Tests to diagnose factor X deficiency include: 

• Prothrombin time (PT): This test measures clotting time. 
• Partial thromboplastin time (PTT): This test measures how long it takes the blood to clot.
• Activated partial thromboplastin time (aPTT): This test checks how long it takes your blood to clot in response to an activator substance added to the blood sample.
• Clotting factor tests: These measure the amount or activity of specific clotting factors in the blood.  

Treatment for factor X deficiency often includes fresh frozen plasma. 

Factor XI (11) deficiency

Factor XI deficiency, sometimes called Hemophilia C, is caused by a lack of factor XI. Signs and symptoms of factor XI deficiency may include:

• Easy bruising
• Frequent nosebleeds
• Bleeding in the mouth and gums, especially after dental work
• Heavy menstrual bleeding or long menstrual periods 
• Blood in urine (pee) or stool (poop)
• Heavy bleeding during or after injury, surgery, or childbirth

Tests to diagnose factor XI deficiency include:

• Activated partial thromboplastin time (aPTT): This test checks how long it takes your blood to clot. 
• Prothrombin time (PT): This test also measures clotting time. It is usually normal in hemophilia.
• Clotting factor tests: These measure the amount of specific clotting factors in the blood.  

Treatment for factor XI deficiency includes factor replacement therapy and certain medicines.

Factor XII (12) deficiency

Factor XII (12) deficiency is caused by a problem with factor XII. It is also called Hageman factor deficiency. 

Patients with this deficiency do not usually have any symptoms. It is thought that other blood-clotting factors do their job when factor XII is missing. Some patients may have slow wound healing. 

The disorder is usually found during blood tests done before medical procedures that cut the skin. factor XII deficiency happens in about 1 in 1 million people. Tests for diagnosis include a prolonged activated partial thromboplastin time (aPTT) test. 

Most people with factor XII deficiency do not need treatment because there is little to no bleeding.  

Factor XIII (13) deficiency

Factor XIII (13) deficiency is caused by a lack of factor XIII, also called fibrin stabilizing factor. Patients with this disorder often have bleeding problems starting at birth, like bleeding from the umbilical cord. The lower the factor XIII in the blood, the more likely bleeding will happen. It is the rarest factor deficiency. It happens in about in 1 per 5 million births. 

Signs and symptoms may include:

• Easy bruising
• Frequent nosebleeds
• Umbilical cord bleeding (hallmark)
• Bleeding in the mouth and gums, especially after dental work
• Heavy menstrual bleeding or long menstrual periods
• Bleeding into joints or muscles
• Bleeding after surgery or injuries
• Bleeding in the stomach or intestines
• Bleeding in the brain
• Slow healing or unusual scars
• Pregnancy problems, including repeated miscarriages
• Bleeding in organs like the spleen, lungs, ears, or eyes

Because patients with factor XIII deficiency form a clot, clotting tests come back normal. Instead, diagnosis is made using factor XIII assays (tests) and a clot solubility test.

Treatment involves replacing missing factor 13 with factor 13 concentrate.  

Questions to ask your care team

• What type of factor deficiency does my child have, and how does it affect them?
• How severe is the factor deficiency?
• What treatments are available for factor deficiency, and how do they work?
• How can I help prevent or manage bleeding in everyday life?
• Are there activities or sports my child should avoid?
• What kind of monitoring or follow-up care will my child need?
• Should we consider genetic testing or counseling for family members?
• What signs or symptoms should I watch for?
• What should we do if my child has an injury?
• What precautions are needed before a surgery or dental procedure?

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