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Hematology

Factor Deficiencies

Overview of Coagulation Factor Deficiencies

  • Definition: A group of bleeding disorders caused by a deficiency or dysfunction of one or more coagulation factors, which are essential for the normal blood clotting process
  • Classification
    • Hereditary (Inherited) Coagulation Factor Deficiencies: Genetic disorders caused by mutations in genes encoding coagulation factors
    • Acquired Coagulation Factor Deficiencies: Caused by external factors that impair coagulation factor synthesis or function
  • Clinical Features
    • Bleeding Tendency: The severity of bleeding depends on the specific factor involved and the degree of deficiency
    • Common Manifestations:
      • Easy bruising
      • Prolonged bleeding after cuts, dental procedures, or surgery
      • Nosebleeds (epistaxis)
      • Gum bleeding
      • Menorrhagia (heavy menstrual bleeding) in women
      • Hemarthrosis (bleeding into joints)
      • Intracranial hemorrhage (rare but life-threatening)

Hereditary Coagulation Factor Deficiencies

  • General Characteristics

    • Inherited in an autosomal recessive or X-linked recessive pattern
    • Often present with bleeding symptoms early in life
    • Specific diagnosis requires factor assays

  • Hemophilia A (Factor VIII Deficiency)

    • Definition: An X-linked recessive bleeding disorder caused by a deficiency of Factor VIII (FVIII)

  • Hemophilia B (Factor IX Deficiency, Christmas Disease)

    • Definition: An X-linked recessive bleeding disorder caused by a deficiency of Factor IX (FIX)

  • Other Rare Hereditary Factor Deficiencies

    • Factor XI Deficiency (Hemophilia C):
    • Factor V Deficiency:
    • Combined Factor V and VIII Deficiency
    • Factor VII Deficiency:
    • Factor X Deficiency:
    • Factor XIII Deficiency:

Acquired Coagulation Factor Deficiencies

  • Vitamin K Deficiency
    • Pathophysiology: Vitamin K is a cofactor for the carboxylation of glutamate residues on Factors II (prothrombin), VII, IX, and X, as well as proteins C and S
  • Liver Disease
    • Pathophysiology: The liver is the primary site of synthesis for most coagulation factors
  • Disseminated Intravascular Coagulation (DIC)
    • Definition: A complex disorder characterized by widespread activation of coagulation and fibrinolysis, leading to both thrombosis and bleeding