Glanzmann's thrombasthenia - newer treatment options

Introduction: Glanzmann's thrombasthenia (GT) is characterized by mucocutaneous bleeding caused by quantitative or qualitative deficiencies of alpha IIb beta 3, an integrin receptor for adhesive proteins, such as fibrinogen and other adhesive proteins, coded by the ITGA2B and ITGB3 genes. Wide clinical heterogeneity is observed in GT patients, which however is poorly understood. Areas covered: This manuscript summarizes the diagnosis, disease features, pathogenesis and current treatments for GT. A literature search on PubMed has been undertaken and the most relevant references have been considered. Expert opinion: Extensive genotyping has revealed that mutations are spread across the two genes; however, the wide variation in clinical manifestations in affected individuals is not explained. Generally, in GT, bleeding is largely mucocutaneous, and local measures and antifibrinolytics are sufficient for minor bleeding episodes, while platelet transfusions or recombinant factor VIIa are used to control life-threatening bleeding. Understanding the genetic and acquired risk factors for development of platelet antibodies is essential to tailor the treatment to each patient on an individual basis. Animal experiments have shown encouraging results to target platelets for gene therapy in GT.