Clinical and Biological Profile of Glanzmann Thrombasthenia in a Pediatric Cohort : A Report of Eight Cases

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Introduction : Glanzmann's thrombasthenia (GT) is a rare bleeding disorder caused by quantitative or qualitative abnormalities of the platelet membrane glycoprotein IIb/IIIa, which is involved in platelet aggregation. This study aimed to describe the clinical and biological profiles of patients with GT and to evaluate the diagnostic performance of platelet aggregometry test in confirming this rare disorder. Material and methods : This study involved 8 patients presenting with clinical symptoms of mucocutaneous bleeding and suspected inherited platelet disorder. Platelet aggregation test was performed on platelet-rich plasma (PRP) using a panel of physiological agonists, including adenosine diphosphate (ADP), collagen, epinephrine, and arachidonic acid. Ristocetin-induced platelet aggregation was assessed to differentiate GT from other macrothrombocytopenias. Results : Hemorrhagic symptoms included mucocutaneous bleeding (epistaxis, ecchymosis, gingival hemorrhage). Both the platelet count and routine hemostasis tests showed normal physiological values. Platelet aggregometry test revealed a pathognomonic profile in all eight cases : a near-total absence of aggregation in response to physiological agonists, contrasted with a preserved or subnormal response to ristocetin. Conclusion : Our study confirm that platelet aggregometry test remains the definitive gold standard for the biological diagnosis of GT. Despite its technical complexity necessitating centralization in specialized reference laboratories, it provides a reliable and essential functional assessment for the management and classification of this rare hemorrhagic disorder.