Bruising and Prolonged Bleeding

🗒️ Question

A 4 year old boy is brought to the GP with recurrent episodes of spontaneous bruising and prolonged bleeding after minor cuts. His mother reports that he had excessive bleeding after circumcision as an infant and prolonged bleeding following a tooth extraction. There is no history of similar symptoms in siblings, however his maternal uncle has a bleeding disorder.

On examination, there are multiple large bruises over his lower limbs and mild swelling of the right knee. No petechiae are noted. There are no signs of hepatosplenomegaly.

Investigations

• Haemoglobin: 120 g/L (110–140)

• Platelet count: 250 × 10⁹/L (150–400)

• Prothrombin time: 12 seconds (10–14)

• APTT: 56 seconds (25–35)

• Factor VIII activity: 5% (50–150)

What is the most appropriate diagnosis?

(A) Von Willebrand disease

(B) Haemophilia A

(C) Immune thrombocytopenia

(D) Disseminated intravascular coagulation

(E) Glanzmann thrombasthenia