Summary about Disease
Afibrinogenemia is an extremely rare, inherited bleeding disorder characterized by the complete absence of fibrinogen in the blood. Fibrinogen is a protein essential for blood clot formation. Without it, the blood cannot clot properly, leading to prolonged and sometimes life-threatening bleeding. It is usually diagnosed in infancy or early childhood.
Symptoms
Symptoms of afibrinogenemia can vary in severity, but often include:
Umbilical cord bleeding after birth
Easy bruising
Nosebleeds (epistaxis)
Bleeding gums
Heavy menstrual bleeding (menorrhagia) in females
Bleeding into joints (hemarthrosis), muscles, or soft tissues
Intracranial hemorrhage (bleeding in the brain), a severe and potentially life-threatening complication
Delayed wound healing
Spontaneous abortions (miscarriages) are more common in women with afibrinogenemia
Causes
Afibrinogenemia is caused by mutations in the FGA, *FGB*, or *FGG* genes. These genes provide instructions for making different parts (alpha, beta, and gamma chains) of the fibrinogen protein. Mutations in any of these genes can prevent the body from producing fibrinogen. It is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
The primary treatment for afibrinogenemia is fibrinogen concentrate replacement therapy. Cryoprecipitate, a blood product rich in fibrinogen, can also be used but carries a higher risk of viral transmission.
Fibrinogen Concentrate: This is the preferred treatment to rapidly increase fibrinogen levels and stop bleeding. It's administered intravenously (IV).
Cryoprecipitate: This blood product contains fibrinogen and other clotting factors. It is also administered intravenously. Regular prophylactic (preventive) infusions of fibrinogen concentrate may be necessary to prevent bleeding episodes.
Is Communicable
No, afibrinogenemia is not communicable. It is a genetic disorder caused by inherited gene mutations and cannot be spread from person to person through contact or other means.
Precautions
Individuals with afibrinogenemia and their families need to take several precautions to minimize the risk of bleeding:
Avoid activities with a high risk of trauma or injury.
Inform all healthcare providers (doctors, dentists, etc.) about the condition before any procedures.
Wear a medical alert bracelet or carry identification indicating the condition.
Avoid medications that can interfere with blood clotting, such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs), unless specifically prescribed by a physician familiar with their condition.
Maintain good dental hygiene to prevent gum bleeding.
Promptly seek medical attention for any signs of bleeding.
How long does an outbreak last?
Afibrinogenemia is not an infectious disease, so the concept of an "outbreak" is not applicable. It is a chronic condition requiring ongoing management. Bleeding episodes can last from a few minutes to several days, depending on the severity and location of the bleed and the effectiveness of treatment.
How is it diagnosed?
Afibrinogenemia is diagnosed through blood tests that measure fibrinogen levels.
Fibrinogen Assay: This test measures the amount of fibrinogen in the blood. In afibrinogenemia, fibrinogen levels will be virtually undetectable (typically < 20 mg/dL)
Clotting Tests: Prothrombin time (PT) and activated partial thromboplastin time (aPTT) will be prolonged, indicating impaired blood clot formation.
Genetic Testing: Genetic testing can confirm the diagnosis by identifying mutations in the FGA, *FGB*, or *FGG* genes.
Timeline of Symptoms
The onset and timeline of symptoms can vary, but a typical progression looks like this:
At Birth: Umbilical cord bleeding is often the first sign.
Infancy/Early Childhood: Easy bruising, nosebleeds, and bleeding gums become apparent.
Childhood/Adolescence: Joint and muscle bleeds may occur, and heavy menstrual bleeding can become an issue for females.
Throughout Life: The risk of spontaneous bleeding events persists, requiring ongoing monitoring and treatment. Intracranial hemorrhage can occur at any point but carries especially grave consequences.
Important Considerations
Lifelong Management: Afibrinogenemia requires lifelong management and monitoring by a hematologist (blood specialist).
Genetic Counseling: Genetic counseling is important for families affected by afibrinogenemia to understand the inheritance pattern and risks of passing the condition on to future children.
Emergency Preparedness: Individuals with afibrinogenemia should have an emergency plan in place, including easy access to fibrinogen replacement therapy and information about their condition.
Dental Care: Special care should be taken with dental procedures to prevent excessive bleeding.
Pregnancy: Pregnancy in women with afibrinogenemia requires close monitoring and management due to the increased risk of bleeding and miscarriage. Fibrinogen concentrate infusions are often needed throughout pregnancy and during delivery.
Individual Variability: The severity of symptoms can vary even among individuals with the same genetic mutation.
Potential for Inhibitor Development: Rarely, individuals receiving fibrinogen concentrate may develop antibodies (inhibitors) against fibrinogen, making treatment less effective. This requires specialized management.