Glanzmann thrombasthenia presenting with upper gastrointestinal bleeding: a case series and review of the literature

Background Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder characterized by a defect in the platelet integrin αIIbβ3. While mucocutaneous bleeding is typical, gastrointestinal (GI) bleeding is not uncommon and can be a potentially severe complication. Materials and methods A total of six patients, including four female and two male individuals with type I GT, presented with massive upper GI bleeding of unknown cause. Treatment was selected based on the severity of each case and included a combination of recombinant activated factor VII (rFVIIa), tranexamic acid, endoscopic intervention, and supportive care. Genetic studies were performed for each patient. Results The endoscopic findings were heterogeneous, varying from normal mucosa to visible vessels, polyps, and arteriovenous malformations. All cases were managed successfully. Discussion The unpredictable nature of GI bleeding in patients with GT highlights the need for careful clinical assessment and a multidisciplinary management approach. Bleeding control was achieved through the use of antifibrinolytic agents and recombinant factor VIIa, which also reduces the risk of platelet alloimmunization. A possible link between certain ITGB3 variants and severe bleeding suggests phenotypic variability. Conclusion This case series highlights the role of careful management strategies in reducing morbidity among patients with GT and adds to the limited literature on gastrointestinal bleeding in this population.