Haemophilia Flashcards
What is the pattern of inheritance of haemophilia A?
X-linked recessive
What is the clotting factor deficient in haemophilia A?
Factor VIII
What is the clinical picture with severe haemophilia?
Factor VIII levels <1 IU
Frequent spontaneous bleeding, typically into joints & muscles
What is the clinical picture seen with moderate haemophilia?
Factor VIII levels 1-5 IU
Associated with severe bleeding following injury and occasional spontaneous bleeds
What is the clinical picture seen with mild haemophilia?
Levels >5 IU
Bleeding only after injury or surgery
What are the lab findings in haemophilia?
Normal bleeding and prothrombin time
Normal VWF levels
Prolonged aPTT
Decreased levels of factor VIII
How is an acute bleed treated in haemophilia?
IV infusion of factor VIII
How is severe haemophilia treated long term?
Factor VIII infusions 3x/wk
What therapy alternative to recombinant factor VIII can be used in mild or moderate haemophilia?
Desmopressin
Causes 3-5x increase in factor VIII levels
Ineffective in severe haemophilia
What common complication do patients with severe haemophilia get?
How are bleeds dealt with in this scenario?
Antibodies to factor VIII that inhibit it’s action.
High levels of recombinant factor VIIa given
What clotting factor is deficient in haemophilia B?
Factor IX
How is haemophilia B treated?
Recombinant factor IX
What are the abnormalities found in Von Willebrand’s disease?
Deficiency of VWF
Causes: defective platelet function and factor VIII deficiency
What are the lab findings in Von Willebrand’s disease?
Decreased VWF
Decreased platelet aggregation
Decreased factor VIII
Increased bleeding time and aPTT
Normal PT
What is the usual treatment for Von Willebrand’s disease?
Desmopressin
