Glanzmann's thrombasthenia
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Glanzmann's thrombasthenia
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Questions
USMLE® Step 1 style questions USMLE
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A 9-year-old boy is brought to the emergency department by his parents due to prolonged bleeding following a tooth extraction earlier in the day. Past medical history is noncontributory. Temperature is 37.5°C (99.5°F), pulse is 88/min, respirations are 14/min, and blood pressure is 112/62 mmHg. Physical exam shows gingival bleeding and petechiae. Laboratory testing is obtained, and the results are shown below.
*Reference Range: 2-7 minutes
Which of the following conditions is the patient at greatest risk of developing?
| Laboratory value | Result |
| Hematologic | |
| Hemoglobin | 12 g/dL |
| Hematocrit | 40% |
| Platelet count | 95,000/mm3 |
| Leukocyte count | 9,000/mm3 |
| Coagulation studies | |
| Prothrombin time (PT) | 12 seconds |
| Activated partial thromboplastin time (aPTT) | 29 seconds |
| Bleeding time* | 15 minutes |
Which of the following conditions is the patient at greatest risk of developing?
External References
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Glanzmann thrombasthenia p. 417, 432
Summary
Glanzmann's thrombasthenia is a rare autosomal recessive bleeding disorder caused by defects in platelet aggregation. In Glanzmann's thrombasthenia, platelets are deficient in the fibrinogen receptor GpIIb/IIIa necessary for proper platelet aggregation. This leads to easy bruising, mucosa bleeding, and prolonged bleeding from even minor cuts. It can also cause internal bleeding, which can be life-threatening.