Congenital afibrinogenemia

  • Definition
    • 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
      • 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
      • Fibrinogen levels
      • Partial thromboplastin time (PTT)
      • Prothrombin time (PT)
      • 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:

  • 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.

  • References
    • Gailani D, Neff AT. Rare coagulation factor deficiencies. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi JI, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 139.

      Meeks SL. Congenital disorders of fibrinogen. In: Shaz BH, Hillyer CD, Roshal M, Abrams CS, eds. Transfusion Medicine and Hemostasis: Clinical and Laboratory Aspects. 2nd ed. Philadelphia, PA: Elsevier; 2013:chap 108.