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

## TL;DR

This paper presents six cases of Glanzmann thrombasthenia patients with upper gastrointestinal bleeding and discusses treatment strategies and genetic factors.

## Contribution

The study adds to the limited literature on GI bleeding in Glanzmann thrombasthenia and suggests a possible link between ITGB3 variants and severe bleeding.

## Key findings

- GI bleeding in GT patients can be managed successfully with a combination of treatments including rFVIIa and tranexamic acid.
- Endoscopic findings in GT-related GI bleeding are variable, ranging from normal mucosa to arteriovenous malformations.
- Certain ITGB3 gene variants may be associated with more severe bleeding in GT patients.

## Abstract

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.

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.

The endoscopic findings were heterogeneous, varying from normal mucosa to visible vessels, polyps, and arteriovenous malformations. All cases were managed successfully.

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.

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.