Glanzmann's thrombasthenia: strategies for identification and management. (3rd August 2017)

• Record Type: Journal Article
• Authors: Poon, Man-Chiu; Di Minno, Giovanni; Zotz, Rainer; d'Oiron, Roseline
• Is Part Of: Expert opinion on orphan drugs. Volume 5:Number 8(2017:Aug.)
• Page Start: 641
• Page End: 653
• Publication Date: 2017-08-03
• Subjects: Glanzmann's thrombasthenia -- diagnosis -- management -- platelet transfusion -- rFVIIa -- αIIbβ3 (GPIIb/IIIa) -- HLA -- Genetics; Orphan drugs -- Periodicals; Rare diseases -- Periodicals; Chemotherapy -- Periodicals; 615.1
• DOI: 10.1080/21678707.2017.1341306
• Languages: English
• ISSNs: 2167-8707

Abstract

ABSTRACT: Introduction: Glanzmann's thrombasthenia (GT) is a rare inherited platelet disorder with deficient/dysfunctional fibrinogen receptor αIIbβ3 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 αIIbβ3 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-αIIbβ3 development. This is particularly important for women of reproductive age and prepubertal girls, given that anti-αIIbβ3 has the potential to cross the placenta during pregnancy, resulting in fetal/neonatal thrombocytopenia and bleeding.