A seven year old girl presents with repeated episodes of bleeding into joints. On investigation, her APTT is was found to be prolonged and PT was normal. Which of the following is the most likely diagnosis?
Von Willebrand disease is inherited in an autosomal dominant fashion affecting both boys and girls. It is associated with prolonged APTT and normal PT and children presents with bleeding into joints. Therefore, VonWillebrand disease is the best choice. vWF is an unusually large multimeric glycoprotein that binds to platelet glycoprotein Ib receptor, bridge platelets together and attach them to the subendothelial matrix at the site of vascular injury. It also has a binding site for factor VIII. It is found to be defective or deficient in von Willebrand disease. Ref: In a Page Emergency Medicine By Jeffrey M. Caterino, Pages 62-3; CURRENT Medical Diagnosis and Treatment, 2012, Chapter 14
Factor VII deficiency
Factor VIII deficiency
Factor XII deficiency
Von Willebrand Disease