A 5-year-old boy with recurrent epistaxis and easy bruising has a prolonged bleeding time, normal platelet count, normal PT, mildly prolonged aPTT that corrects on mixing studies, and factor VIII activity of 35%. His mother has a history of menorrhagia. What is the most likely diagnosis?

• A Mild hemophilia A
• B Vitamin K deficiency
• C Platelet function disorder such as Glanzmann thrombasthenia
• D von Willebrand disease ✓

Explanation

Von Willebrand disease is the commonest inherited bleeding disorder and shows autosomal inheritance, explaining the affected mother. Defective vWF impairs platelet adhesion, giving mucosal bleeding and prolonged bleeding time, and also lowers factor VIII by reducing its carrier protein, producing mild aPTT prolongation. In hemophilia A the bleeding time is normal and inheritance is X-linked. Glanzmann gives abnormal platelet aggregation with normal factor VIII, and vitamin K deficiency prolongs PT prominently.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.