Lightning Learning: Christmas Disease
What?
Haemophilia B also known as Christmas Disease is caused by a deficiency of clotting factor IX. It presents with easy bruising & recurrent bleeding into joints and deep muscles.
Also beware of other sources of bleeding, including after “minor injuries".
Treatment should include the replacement of the missing clotting factors – involve Haematology early!
Why?
Clinically it is indistinguishable from Haemophilia A (which is more common and accounts for approx 80% of cases of haemophilia). There may also be a family history.
Initial symptoms and examination findings may be nonspecific but should be taken seriously.
Intracranial haemorrhage remains a leading cause of death and this needs to be considered even after minor trauma.
Further Reading
- REBEL EM: Haemophillia
- FRCA: Clotting Cascade