In July 2004, Mr. L, a 29-year-old male, suffered from a left thigh injury playing football and presented the next day to the emergency department. It was noted that he had increased swelling and paraesthesia and was unable to weight-bear.
On further questioning, this gentleman had a history of recurrent haematomas presenting in 1994 and again in 1998. No surgical intervention was required on these occasions. He was previously surgically challenged undergoing a tonsillectomy as a child with no haemorrhagic complications. Mr. L remembers suffering multiple epistaxis as a teenager but never required hospital admissions. He gave no family history of any bleeding disorders on direct questioning.
On this occasion, Mr. L was treated conservatively with bed rest, analgesia, neurovascular observations, and serial ultrasounds of the haematoma. Mr. L received prophylactic enoxaparin during admission for his VTE risk. The haematoma was slow to resolve resulting in a prolonged hospital admission.
Coagulation screen persistently revealed elevated APTT for 44 seconds (normal range 21-32 seconds) and therefore haematology was contacted. After the 50 : 50 plasma mix showed correction of the APTT, intrinsic factors were quantified. Factor VIII was low at 24% and VW antigen and activity were appropriate for his blood group. The diagnosis was in keeping with mild haemophilia A and he is under the long-term care of a comprehensive care haemophilia centre. Mr. L was from a family of 11 siblings and extended family genetic screening revealed that 4 of his brothers also had undiagnosed mild haemophilia A and two of his sisters were carriers. The patient returned to sport after 1 month of outpatient physiotherapy and is now treated with on-demand factor replacement.