Our patient is started on recombinant factor VIII replacement and achieves a trough level of 100%. Neurosurgery is not required. Genetic samples are sent to examine the F8 gene to see where the mutation is as this can help investigate other family members and can also predict inhibitor formation.
‘Inhibitors’ are alloantibodies against the VIII replacement rendering them ineffective and therefore cause major interference with treatment of haemophilia when they occur.
Here is the family tree of our patient:
- What increases the risk of inhibitor formation?
- Which relatives would you be keen to counsel and test?
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