Inherited thrombocytopenias: an updated guide for clinicians.

Abstract

The great advances in the knowledge of inherited thrombocytopenias (ITs) made since the turn of the century have significantly changed our view of these conditions. To date, ITs encompass 45 disorders with different degrees of complexity of the clinical picture and very wide variability in the prognosis. They include forms characterized by thrombocytopenia alone, forms that present with other congenital defects, and conditions that predispose to acquire additional diseases over the course of life. In this review, we recapitulate the clinical features of ITs with emphasis on the forms predisposing to additional diseases. We then discuss the key issues for a rational approach to the diagnosis of ITs in clinical practice. Finally, we aim to provide an updated and comprehensive guide to the treatment of ITs, including the management of hemostatic challenges, the treatment of severe forms, and the approach to the manifestations that add to thrombocytopenia.

• Authors: Alessandro Pecci, Carlo L Balduini
• Journal: Blood reviews (Blood Rev) Vol. 48 Pg. 100784 (07 2021) ISSN: 1532-1681 [Electronic] England
• PMID: 33317862 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2020 Elsevier Ltd. All rights reserved.

Topics

• Alleles
• Clinical Decision-Making
• Disease Management
• Genetic Diseases, Inborn (blood, diagnosis, etiology, therapy)
• Genetic Predisposition to Disease
• Genotype
• Germ-Line Mutation
• Humans
• Phenotype
• Practice Guidelines as Topic
• Thrombocytopenia (blood, diagnosis, etiology, therapy)