Acquired Glanzmann thrombasthenia: a rare disorder

Qualitative platelet function defects may be congenital, e.g., Glanzmann thrombasthenia, or acquired. Acquired platelet function disorders are more common than reported. Glanzmann thrombasthenia, an inherited platelet function disorder, is caused by mutations in the ITGA2B and ITGB3 genes encoding the alpha IIb beta 3 integrin. An acquired form of GT is also seen, which is caused by antibodies to platelet integrin alpha IIb beta 3. This affects fibrinogen binding and blocks platelet aggregation. These patients have low platelet count with a moderate-to-severe bleeding tendency, while some patients may have normal platelet counts. It is commonly found in association with autoimmune disorders, hematological malignancies, and infections. Glanzmann thrombasthenia-like state can also be seen in immune thrombocytopenic purpura (ITP) due to presence of antibodies to alpha IIb beta 3. These patients present with severe bleeding even with mild thrombocytopenia. We describe a patient of ITP with borderline low platelet count and severe bleeding, who posed a diagnostic challenge. However, an accurate diagnosis and suitable management helped to avoid catastrophic bleeding.

Automated summary

Qualitative platelet function defects can be congenital or acquired, with Glanzmann thrombasthenia being a genetic disorder. Besides genetic factors, acquired disorders can also lead to platelet function abnormalities, often associated with autoimmune diseases, hematologic malignancies, and infections. Accurate diagnosis and appropriate management are crucial in preventing catastrophic bleeding.