Inherited Platelet Disorders: Diagnosis and Management

Abstract

Inherited platelet disorders are rare but they can have considerable clinical impacts, and studies of their causes have advanced understanding of platelet formation and function. Effective hemostasis requires adequate circulating numbers of functional platelets. Quantitative, qualitative and combined platelet disorders with a bleeding phenotype have been linked to defects in platelet cytoskeletal elements, cell surface receptors, signal transduction pathways, secretory granules and other aspects. Inherited platelet disorders have variable clinical presentations, and diagnosis and management is often challenging. Evaluation begins with detailed patient and family histories, including a bleeding score. The physical exam identifies potential syndromic features of inherited platelet disorders and rules out other causes. Laboratory investigations include a complete blood count, blood film, coagulation testing and Von Willebrand factor assessment. A suspected platelet function disorder is further assessed by platelet aggregation, flow cytometry, platelet dense granule release and/or content, and genetic testing. The management of platelet function disorders aims to minimize the risk of bleeding and achieve adequate hemostasis when needed. Although not universal, platelet transfusion remains a crucial component in the management of many inherited platelet disorders.

Keywords: Diagnosis of platelet disorders; Genetics of platelet disorders; Inherited platelet disorders; Inherited thrombocytopenias; Platelet function disorders; Treatment of platelet disorders.