Afibrinogenemia


Afibrinogenemia

Description, Causes and Risk Factors:

The absence of fibrinogen in the plasma.

Afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. Fibrinogen is a 340-kD glycoprotein that is synthesized in the liver and circulates in plasma at a concentration of 2-4 g/L, with a half-life of 4 days. The fibrinogen molecule is a hexamer, consisting of 3 paired polypeptide chains: A-?, B-?, and ?; A and B refer to specific polypeptides on 2 of the chains. Synthesis of the protein in hepatocytes is under the control of 3 genes (one for each chain) located within 50 kilobases (kb) on chromosome 4.

afibrinogenemia

Prevalence of afibrinogenemia is estimated at 1/1,000,000. Common manifestations of afibrinogenemia include umbilical cord bleeding, epistaxis, hemarthrosis, gastrointestinal bleeding, menorrhagia, traumatic and surgical bleeding and, rarely, intracranial hemorrhage.

This was first described by Rabe and Salomon in 1920. It is a rare bleeding disorder inherited as autosomal recessive traits. Afibrinogenemia is usually responsible for hemorrhagic diathesis.

This rare disease is caused by an abnormal gene that must be passed down from both parents. It causes a severe lack of fibrinogen. Milder forms can occur in people who inherit only one abnormal gene from their parents. (Dysfibrinogenemia, in which there is a defect in fibrinogen function, is a different condition). Congenital afibrinogenemia can occur in males or females. The main risk factor is a family history of bleeding disorders.

Recurrent spontaneous abortions may occur. The deficiency is due to various mutations in the FGA, FGB, or FGG genes. Transmission is autosomal recessive.

Symptoms:

Symptoms may include:

    Bruising.

  • Bleeding from the umbilical cord just after birth.

  • Bleeding in joints.

  • Excessive bleeding after injury or surgery.

  • Nosebleeds.

Diagnosis:

If the health care provider suspects a bleeding disorder, laboratory tests can determine the type and severity. This disorder usually shows up in childhood, often at birth.

Tests include:

    Bleeding time (BT).

  • Fibrinogen levels.

  • Partial thromboplastin time (PTT).

  • Prothrombin time (PT).

  • Reptilase time (RT)

  • Thrombin time (TT).

Treatment:

To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive:

    Cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors) through a vein (transfusion).

  • Fibrinogen (RiaSTAP).

  • Plasma (the liquid portion of the blood containing clotting factors).

  • People with this condition should have the hepatitis B vaccine because transfusion increases the risk of hepatitis.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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