Glanzmann Thrombasthenia - Challenging Gastrointestinal Bleeding Without Definitive Management Guidelines

Introduction: Gastrointestinal bleeding is a life-threatening complication of Glanzmann thrombasthenia (GT), an inherited platelet disorder caused by mutations of the platelet-fibrinogen receptor integrin αIIbβ3. Patients with GT who develop GI bleeding usually undergo diagnostic endoscopies without successful identification of a clear bleeding source. There are currently no management guidelines for GI bleeding in GT patients due to a paucity of reported cases in the literature. Our study aims to highlight the case of a 48-year-old woman with Glanzmann thrombasthenia who presented with recurrent GI bleed and summarize the current literature on management approaches of GI bleeding in patients with GT. Case Description/Methods: A 48-year-old woman with history of Glanzmann thrombasthenia presented to the hospital with 1-week history of hematochezia. Her hemoglobin was 9 g/dL. She underwent a computed tomography angiogram (CTA) which failed to detect any active contrast extravasation to suggest active GI hemorrhage. Endoscopy revealed multiple localized petechiae in the stomach, a single smooth lesion in the duodenal bulb, and a single non-bleeding erosion in the ascending colon with no stigmata of recent bleeding in the entire colon otherwise. The patient was started on recombinant factor VIIa (rFVIIa) infusions and intravenous tranexamic acid 1000 mg three times daily. She had resolution of hematochezia by day 3 of hospitalization. She was discharged from the hospital on the fourth day with a prescription for daily proton pump inhibitor and oral tranexamic acid tablets for bleeding prophylaxis (Figure 1). Discussion: Endoscopic pursuits in GT patients with GI bleeding often fail to localize or identify the bleeding source. Identifying appropriate treatment modalities for controlling gastrointestinal bleeding in Glanzmann thrombasthenia patients is of paramount importance, not only for controlling the bleeding, but also for avoiding serious complications like platelet alloimmunization and transfusion transmitted infections or allergic reactions. Platelet transfusions remain the cornerstone for managing mild to moderate bleeding episodes however numerous case reports have highlighted success of stabilizing and resolving major bleeding episodes using a combination of rFVIIa and tranexamic acid. Our study aims to raise awareness of Glanzmann thrombasthenia among gastroenterologists worldwide and highlight the primary modalities for approaching life threatening gastrointestinal bleeding episodes in this population.Figure 1.: Gastric Petechiae and Colonic Mucosal Lesion as Suspected GI Bleeding Source.