Prothrombin deficiency

Prothrombin deficiency is a disorder caused by a lack of a protein in the blood called prothrombin. It leads to problems with blood clotting (coagulation). Prothrombin is also known as factor II (factor two).

Causes

When you bleed, a series of reactions take place in the body that helps blood clots form. This process is called the coagulation cascade. It involves special proteins called coagulation, or clotting, factors. You may have a higher chance of excess bleeding if one or more of these factors are missing or are not functioning like they should.

Prothrombin, or factor II, is one such coagulation factor. Prothrombin deficiency runs in families (inherited) and is very rare. Both parents must have the gene to pass the disorder on to their children. A family history of a bleeding disorder can be a risk factor.

Prothrombin deficiency can also be due to another condition or use of certain medicines. This is called acquired prothrombin deficiency. It can be caused by:

• Lack of vitamin K (some babies are born with vitamin K deficiency)

  Vitamin K

  Vitamin K is a fat-soluble vitamin. Your body stores vitamin K in the liver and other body tissues, including the brain, heart, pancreas, and bone....

  

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• Severe liver disease

  Liver disease

  The term "liver disease" applies to many conditions that stop the liver from working or prevent it from functioning well. Abdominal pain or swelling...

  

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• Use of medicines that prevent clotting (anticoagulants such as warfarin)

Symptoms

Symptoms may include any of the following:

• Abnormal bleeding after childbirth
• Heavy menstrual bleeding
• Bleeding after surgery
• Bleeding after trauma
• Bruising easily

  Bruising

  Bleeding into the skin can occur from broken blood vessels that form tiny red dots (called petechiae). Blood also can collect under the tissue in la...

  

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• Nosebleeds that do not stop easily
• Umbilical cord bleeding after birth

Exams and Tests

Tests that may be done include:

• Factor II assay

  Factor II assay

  The factor II assay is a blood test to measure the activity of factor II. Factor II is also known as prothrombin. This is one of the proteins in th...

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• Partial thromboplastin time (PTT)

  Partial thromboplastin time

  Partial thromboplastin time (PTT) is a blood test that looks at how long it takes for blood to clot. It can help tell if you have a bleeding problem...

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• Prothrombin time (PT)

  Prothrombin time

  Prothrombin time (PT) is a blood test that measures the time it takes for the liquid portion (plasma) of your blood to clot. It measures the functio...

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• Mixing study (a special PTT test to confirm prothrombin deficiency)

Treatment

Bleeding can be controlled by getting intravenous (IV) infusions of plasma or concentrates of clotting factors. If you lack vitamin K, you can take this vitamin by mouth, through injections under the skin, or through a vein (intravenously).

If you have this bleeding disorder, be sure to:

• Tell your health care providers before you have any kind of procedure, including surgery and dental work.
• Tell your family members because they may have the same disorder but do not know it yet.

Support Groups

More information and support for people with Factor VII deficiency and their families can be found at:

• National Hemophilia Foundation -- www.hemophilia.org/community-resources
• NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/2926/prothrombin-deficiency

Outlook (Prognosis)

The outcome is good with proper treatment.

Inherited prothrombin deficiency is a lifelong condition.

The outlook for acquired prothrombin deficiency depends on the cause. If it is caused by liver disease, the outcome depends on how well your liver disease can be treated. Taking vitamin K supplements will treat vitamin K deficiency.

Possible Complications

Severe bleeding in the organs can occur.

When to Contact a Medical Professional

Get emergency treatment right away if you have unexplained or long-term blood loss, or if you cannot control the bleeding.

Prevention

There is no known prevention for inherited prothrombin deficiency. When a lack of vitamin K is the cause, using vitamin K supplements can help.