This patient's frequent bleeding, prolonged bleeding time in the presence of normal aspects such as vitamin K level along with increased number of large platelets points to a diagnosis of Bernard-Soulier syndrome, a rare autosomal recessive bleeding disorder. It results from a mutation in the GP1b gene that codes for the platelet membrane glycoprotein Ib-IX-V complex which mediates the initial adhesion of platelets to the site of vascular injury.
Give feedback Glycoprotein IIb/IIIa mutations cause Glanzmann thrombasthenia, a condition that affects platelet aggregation rather than adhesion. Patients have normal platelet counts but abnormal clot retraction.