Congenital afibrinogenemia

Congenital afibrinogenemia is a rare, inherited blood disorder in which the blood does not clot normally. It occurs when there is a total lack of a protein called fibrinogen. This protein is needed for the blood to

Causes

This rare disease is due to an abnormal gene that causes a complete lack of fibrinogen. The gene must be passed down from both parents.

Congenital afibrinogenemia can occur in males or females.

Milder forms can occur in people who inherit only one abnormal gene from their parents.

Symptoms

Symptoms may include any of the following:

• Bruising easily

  Bruising

  A bruise is an area of skin discoloration. A bruise occurs when small blood vessels break and leak their contents into the soft tissue beneath the s...

   

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• Bleeding from the umbilical cord just after birth
• Bleeding in the mucus membranes
• Bleeding in the brain
• Bleeding in the joints
• Heavy bleeding after injury or surgery
• Nosebleeds that do not stop easily

Exams and Tests

If your health care provider suspects this problem, you will have lab tests to confirm the type and severity of the disorder.

This disorder usually shows up in children, often at birth.

Tests include:

• Bleeding time

  Bleeding time

  Bleeding time is a medical test that measures how fast small blood vessels in the skin stop bleeding.

   

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• Fibrinogen levels
• Partial thromboplastin time ( PTT )

  PTT

  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 )

  PT

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

   

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• Reptilase time
• Thrombin time

Treatment

The following treatments can be used for bleeding episodes or to prepare for surgery:

• Cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors)
• Fibrinogen (RiaSTAP)
• Plasma (the liquid portion of the blood containing clotting factors)

People with this condition should get the hepatitis B vaccine . Having many transfusions raises your risk for getting hepatitis.

Outlook (Prognosis)

Excessive bleeding is common with this condition. These episodes may be severe, or even fatal. Bleeding in the brain is a leading cause of death in people with this disorder.

Possible Complications

Complications may include:

• Blood clots with treatment
• Development of antibodies (inhibitors) to fibrinogen with treatment
• Gastrointestinal bleeding

  Gastrointestinal bleeding

  Gastrointestinal (GI) bleeding refers to any bleeding that starts in the gastrointestinal tract. Bleeding may come from any site along the GI tract, ...

   

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• Miscarriage
• Rupture of the spleen
• Slow healing of wounds

When to Contact a Medical Professional

Call your health care provider or seek emergency care if you have excessive bleeding.

Tell your surgeon before you have surgery if you know or suspect you have a bleeding disorder.

Prevention

Congenital afibrinogenemia is an inherited condition. There is no known prevention.