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Review Article
Current Knowledge on Inherited Platelet Function Disorders
Clin Pediatr Hematol Oncol 2020;27:1-13.
Published online April 30, 2020
© 2020 Korean Society of Pediatric Hematology-Oncology

Nani Jung and Ye Jee Shim

Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Medical Center, Daegu, Korea
Correspondence to: Ye Jee Shim
Department of Pediatrics, Keimyung University School of Medicine, 1095 Dalgubeol-daero, Dalseo-gu, Daegu 42601, Korea
Tel: +82-53-258-7824
Fax: +82-53-258-4875
E-mail: yejeeshim@dsmc.or.kr
ORCID ID: orcid.org/0000-0002-5047-3493
Received March 31, 2020; Revised April 11, 2020; Accepted April 14, 2020.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Inherited platelet function disorders (IPFDs) are rare and underdiagnosed in individuals with clinically significant bleeding diathesis. IPFDs are classified according to the causative molecular defects involved in the process of primary hemostasis of platelets, which include the following: 1) adhesion (e.g., Bernard?Soulier syndrome and pseudo-von Willebrand disease), 2) activation (e.g., adenosine diphosphatase receptor defect and thromboxane A2 receptor defect), 3) signal transduction and granule secretion (e.g., gray platelet syndrome, Paris?Trousseau/Jacobsen syndrome, Chediak?Higashi syndrome, and Hermansky?Pudlak syndrome), 4) aggregation (e.g., Glanzmann thrombasthenia), and 5) procoagulant activity (e.g., Scott syndrome). Patients with IPFDs typically present with unexpected mucocutaneous bleeding during early childhood. The diagnosis of these conditions requires several laboratory tests including complete blood cell count, peripheral blood smear, platelet function analysis, light-transmission aggregometry, flow cytometry, electron microscopy, and genetic analysis. Platelet transfusion has been the mainstay of treatment. However, antifibrinolytics, desmopressin, and recombinant activated factor VII are also effective when used as a monotherapy or adjunctive therapy. Importantly, the prevention of bleeding event is the most basic strategy in the management of IPFDs. This review aimed to assess the normal platelet physiology and summarize the current knowledge about the molecular defects, diagnostic evaluation, and treatment strategies of the respective IPFDs. If the cause of the bleeding tendency is difficult to identify, IPFDs should be considered.
Keywords: Blood platelet disorders, Bernard-Soulier syndrome, Platelet storage pool deficiency, Gray platelet syndrome, Thrombasthenia, Platelet function tests
Figures
Fig. 1. Normal platelet function in primary hemostasis at the damaged vessel wall and the associated inherited platelet function disorders. vWF, von Willebrand factor; GP, glycopretein; TXA2, thromboxane A2; ADP, adenosine diphosphate; PS, phosphatidylserine.
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April 2020, 27 (1)
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  • Ye Jee Shim