DR Medhat MRCP

Haemophilia
- Haemophilia is a X-linked recessive disorder of coagulation.
- Up to 30% of patients have no family history of the condition.
- Haemophilia A is the most common type of haemophilia ( accounts for 90 % of cases) &
it`s due to a deficiency of factor VIII whilst in haemophilia B (Christmas disease) there is
a lack of factor IX
• Features (C/P of bleeding into soft tissues) :
Haemoarthroses (usually leads to joint damage& deformity), haematomas.
Prolonged bleeding after surgery or trauma.
NB: Fe ↓ anemia is not frequent in haemophilia (Fe is recycled from soft tissues).
• Blood tests:
Grossly elevated APTT.
Bleeding time, thrombin time, prothrombin time normal.
Causes of grossly elevated APTT :
1) Haemophilia.
2) Antiphospholipid syndrome.
3) Unfractionated heparin therapy.
• Management : ( there is no cure for haemophilia but it can be controlled)
Regular factor VIII I.V infusion : in Haemophilia A.
Regular factor IX I.V infusion : in Haemophilia B.
Tranexemic acid : - - activation of plasminogen→↓ conversion to plasmin→↓ fibrin
clot degradation→↓ risk of bleeding (important to be given pre-operative)
Recombinant human factor VII (NovoSeven) : in cases refractory to clotting factor.
Gene therapy (genetically modified adeno-associated virus).
Up to 10-15% of patients with haemophilia A receiving multiple factor VIII transfusion
سؤال treatment. develop antibodies (inhibitors) to factor VIII
Acquired Hemophilia: is associated with anti-factor VIII IgG antibodies and is
idiopathic in the majority of cases.
Association:
Autoimmune diseases: (Rheumatoid Arthritis or IBD).
Drugs such as phenytoin.
Management:
Factor VIII concentrate
If serious bleeding→ steroids ± steroid sparing immunsuppressors.
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