DYSFIBRINOGENEMIA

• Biochemical aspects:
  PLease refer to section on "Afibrinogenemia" for further information on biochemical aspects of fibrinogen.
• Pathological Basis:
  • Mode of inheritance: autosomal dominant.
  • There have been reports of abnormalities of all three phases of fibrin formation (proteolytic, polymerization, and stabilization). In some instances, specific amino acid substitutions have been identified within one of the three constituent chains of fibrinogen.
  • Most patients with dysfibrinogenemia are asymptomatic. Patients who have bleeding problems usually have mild to moderate bleeding. Thromboembolic disease has also been described in this disorder.
• Treatment:
  • Cryoprecipitate: in instances of bleeding. It is sufficient to keep the level of clottable fibrinogen around 100 mg/dl.
  • Heparin, oral anticoagulant: in cases of thrombosis.
  • Dosage: the amount of fibrinogen (in mg) required can be calculated from:
    • 40*BW*(desired fibrinogen level-actual fibrinogen level)/100
    • where BW is body weight in kg