Glanzmann's thrombasthenia: strategies for identification and management

Introduction: Glanzmann's thrombasthenia (GT) is a rare inherited platelet disorder with deficient/ dysfunctional fibrinogen receptor aIIb beta 3 important for platelet aggregation. Bleeding is mostly mucocutaneous, but can be severe. Area covered: We review the pathobiology, diagnosis and management of GT. Diagnosis requires the demonstration of absent/defective platelet aggregation to physiologic stimuli but normal to ristocetin (gold standard). Flow cytometry can confirm aIIb beta 3 deficiency but not dysfunction. Platelet transfusion is the standard of care for bleeding and trauma/surgery not responsive to conservative treatment, but there are potential complications with clinical consequences such as development of platelet-antibodies. Results from a previous international survey and the GT Registry suggest rFVIIa may be effective with few safety concerns in GT patients with and without platelet antibodies and/or platelet refractoriness. Expert opinion: Whenever possible, rFVIIa should be preferred in patients with past or present platelet-antibodies and/or platelet-refractoriness or when platelet concentrates are not immediately available. rFVIIa is preferred over platelet transfusion in type I GT with severe mutation (or when molecular diagnosis is not available) to prevent anti-aIIb beta 3 development. This is particularly important for women of reproductive age and prepubertal girls, given that anti-aIIb beta 3 has the potential to cross the placenta during pregnancy, resulting in fetal/neonatal thrombocytopenia and bleeding.