Hemophilia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Differentiating Hemophilia with other Diseases

Hemophilia A can be mimicked by von Willebrand Disease

• Von Willebrand Disease type 2A, where decreased levels of von Willebrand Factor can lead to premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 2A is inherited in an autosomal dominant fashion.
• Von Willebrand Disease type 2N, where von Willebrand Factor cannot bind Factor VIII
• Von Willebrand Disease type 3, where lack of von Willebrand Factor causes premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 3 is inherited in an autosomal recessive fashion.

Additionally, severe cases of vitamin K deficiency can present similar symptoms to haemophilia. This is because vitamin K is necessary for the human body to produce several protein clotting factors. This vitamin deficiency is rare in adults and older children but is common in newborns. Infants are born with naturally low levels of vitamin K and do not yet have the symbiotic gut flora to properly synthesise their own vitamin K. Bleeding issues due to vitamin K deficiency in infants is known as "haemorrhagic disease of the newborn", to avoid this complication newborns are routinely injected with vitamin K supplements.

• The other conditions to be considered includes the following:
  • Lupus Anticoagulant
  • Heparin Administration
  • Disseminated Intravascular Coagulation
  • Dysfibrinogenemia

Condition	Prothrombin time	Partial Thromboplastin Time	Bleeding Time	Platelet Count
Heamophilia A or B	Unaffected	Prolonged	Unaffected	Unaffected
Von Willebrand Disease	Unaffected	Prolonged or Unaffected	Prolonged	Unaffected
Thrombocytopenia	Unaffected	Unaffected	Prolonged	Decreased
Vitamin K deficiency or Warfarin	Unaffected	Unaffected	Prolonged	Decreased
Disseminated Intravascular Coagulation	Unaffected	Unaffected	Prolonged	Decreased
Liver failure, early	Unaffected	Unaffected	Prolonged	Decreased
Aspirin	Unaffected	Unaffected	Prolonged	Decreased
Liver failure, end-stage	Unaffected	Unaffected	Prolonged	Decreased
Uremia	Unaffected	Unaffected	Prolonged	Decreased
Congenital afibrinogenemia	Unaffected	Unaffected	Prolonged	Decreased
Factor V deficiency	Unaffected	Unaffected	Prolonged	Decreased
Factor X deficiency as seen in amyloid purpura	Unaffected	Unaffected	Prolonged	Decreased
Glanzmann's thrombasthenia	Unaffected	Unaffected	Prolonged	Decreased
Bernard-Soulier syndrome	Unaffected	Unaffected	Prolonged	Decreased
Factor XII deficiency	Unaffected	Unaffected	Prolonged	Decreased
C1INH deficiency	Unaffected	Unaffected	Prolonged	Decreased
Thrombocytopenia	Unaffected	Unaffected	Prolonged	Decreased
Thrombocytopenia	Unaffected	Unaffected	Prolonged	Decreased
Thrombocytopenia	Unaffected	Unaffected	Prolonged	Decreased
Adapted from Wikipedia hemophilia Laboratory Finding> "Wikipedia Hemophilia Laboratory Finding".