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Idiopathic thrombocytopenia can mask haemophilia

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Children with idiopathic thrombocytopenia who show atypical bleeding may have underlying haemophilia. This rare finding comes from a case study of two young children. The first case was of a boy aged 2 years who developed a large and increasing bruise over both eyelids of one eye after a superficial graze. He also had many small bruises over his legs. His maternal uncle had died of a brain haemorrhage after a cycling accident, though this did not necessarily suggest a bleeding disorder in the family. A range of tests to establish clotting ability, a full blood count, and a bone marrow aspirate pointed to mild haemophilia. Treatment with vasopressin produced better clotting and high dose immunoglobulin was given to control the thrombocytopenia. Within days his platelet count had risen and the bruise became smaller. Later, his older brother was found to have haemophilia A, making their mother an obligatory carrier and suggesting that the uncle might have had the disorder.

The other case was in a 5 year old girl whose uncle had severe haemophilia. She first presented with bruising. Blood tests discounted von Willebrand’s disease and showed she was a carrier for haemophilia A. She had abnormally low factor VIII-C. Four years later, after spontaneous bleeding, she was given vasopressin. Shortly afterwards she returned with severe bleeding after a minor accident and received a vasopressin infusion. She responded initially to a trial of oral steroids but eventually developed chronic idiopathic thrombocytopenia.

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