Annals of medicine and surgery (2012) · 2026
Severe iron-deficiency anemia and recurrent mucosal bleeding revealing Glanzmann thrombasthenia in a young adult: a case report.
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Kuppireddy Manasa, Bai R Dikshitha
Аннотация
INTRODUCTION AND IMPORTANCE: Glanzmann thrombasthenia is a rare inherited platelet function disorder characterized by defective platelet aggregation and mucocutaneous bleeding. Although it typically presents in childhood, delayed diagnosis in adulthood is uncommon and poses diagnostic challenges, particularly when routine coagulation parameters are normal.
CASE PRESENTATION: We report a young adult male who presented with recurrent gingival bleeding and severe iron-deficiency anemia without a prior history of childhood bleeding. Routine coagulation studies and platelet counts were normal. Platelet aggregation studies demonstrated absent aggregation to all agonists except ristocetin, confirming the diagnosis of Glanzmann thrombasthenia. The patient was managed with supportive care and transfusion as required.
CLINICAL DISCUSSION: This case highlights the importance of considering inherited platelet function disorders in adults with unexplained mucocutaneous bleeding despite normal initial laboratory investigations. Platelet aggregation studies remain the diagnostic gold standard and are essential to avoid delayed diagnosis and inappropriate management.
CONCLUSION: Glanzmann thrombasthenia can rarely present in adulthood and should be considered in patients with persistent isolated mucocutaneous bleeding. Early recognition allows appropriate counselling, bleeding prevention strategies, and optimized transfusion planning.
CASE PRESENTATION: We report a young adult male who presented with recurrent gingival bleeding and severe iron-deficiency anemia without a prior history of childhood bleeding. Routine coagulation studies and platelet counts were normal. Platelet aggregation studies demonstrated absent aggregation to all agonists except ristocetin, confirming the diagnosis of Glanzmann thrombasthenia. The patient was managed with supportive care and transfusion as required.
CLINICAL DISCUSSION: This case highlights the importance of considering inherited platelet function disorders in adults with unexplained mucocutaneous bleeding despite normal initial laboratory investigations. Platelet aggregation studies remain the diagnostic gold standard and are essential to avoid delayed diagnosis and inappropriate management.
CONCLUSION: Glanzmann thrombasthenia can rarely present in adulthood and should be considered in patients with persistent isolated mucocutaneous bleeding. Early recognition allows appropriate counselling, bleeding prevention strategies, and optimized transfusion planning.