Inherited platelet functional disorders: General principles and practical aspects of management

Abstract

Platelets are a critical component for effecting hemostasis and wound healing. Disorders affecting any platelet pathway mediating adhesion, activation, aggregation and procoagulant surface exposure can result in a bleeding diathesis. Specific diagnosis even with advanced techniques which are unavailable to most centers is often difficult. Inherited platelet function disorders therefore represent a heterogeneous and complex collection of disorders with a spectrum of bleeding severity, from relatively mild (and easily missed or misdiagnosed) to severe bleeding phenotype with salient diagnostic features. We advocate the use of bleeding assessment tools to help identification of patients and more importantly for assessment of individual patient bleeding phenotype to guide management decisions for treating and preventing bleeding. The complex management of these patients is best coordinated in a multidisciplinary comprehensive care clinic setting expert in managing bleeding disorders and associated complications, with particular attention to the physical and psychosocial health of patients and their families. Depending on the bleeding phenotype, the location and severity of bleeding, and the nature of an invasive procedure, available treatment modalities range from conservative measures using local pressure, topical thrombin, fibrin sealant, antifibrinolytics etc. to the use of systemic haemostatics such as desmopressin (DDAVP), platelets and recombinant human activated factor VII (rFVIIa). This review will provide opinions on the practical aspects and general management of inherited platelet function disorders, with discussion on the mechanism of action, and the pros and cons of various hemostatic agents. Finally, the prospect of curative treatment for patients with severe bleeding phenotype refractory to available treatments and with poor quality of life will be briefly discussed.

Keywords: Antifibrinolytics; Bernard Soulier syndrome; Diagnosis; Glanzmann’s Thrombasthenia; Inherited platelet function disorders (IPFD); Management; Platelet transfusion; Recombinant human activated factor VII (rFVIIa); desmopressin/DDAVP.