Platelet Function Disorders: Glanzmann Thrombasthenia and Type 2 Von Willebrand Disease

Bleeding disorders represent a broad spectrum of conditions that disrupt normal clot formation through abnormalities in platelet function or the coagulation cascade. Disorders affecting primary hemostasis typically manifest as mucosal bleeding, whereas abnormalities in secondary hemostasis more often lead to deep tissue hemorrhage. However, certain conditions, such as von Willebrand disease, may involve features of both pathways, complicating clinical evaluation. This report describes two adolescent patients who presented with mucocutaneous bleeding but were ultimately diagnosed with different underlying conditions: Glanzmann thrombasthenia and type 2 von Willebrand disease. The first patient exhibited recurrent gingival bleeding with normal platelet counts and near-normal coagulation studies. Further evaluation using platelet aggregation testing revealed impaired responses to multiple agonists, consistent with a defect in platelet aggregation. The second patient presented with gingival bleeding and severe menorrhagia and was initially treated as a case of hemophilia due to reduced factor VIII levels. Lack of therapeutic response prompted further testing, which demonstrated abnormal von Willebrand factor activity, confirming a qualitative defect. These cases highlight the importance of correlating clinical presentation with specialized laboratory investigations. Reliance on routine tests alone may lead to misdiagnosis, whereas a systematic diagnostic approach allows accurate identification and appropriate management of bleeding disorders.