Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
Ferrata-Storti Foundation, Pavia, Italy.
Blood Rev. 2021 Jul;48:100784. doi: 10.1016/j.blre.2020.100784. Epub 2020 Dec 1.
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.
自本世纪初以来，遗传性血小板减少症（ITs）知识的巨大进步极大地改变了我们对这些疾病的看法。迄今为止，ITs 包括 45 种不同程度复杂临床表现和预后差异极大的疾病。它们包括仅表现为血小板减少的形式、伴有其他先天性缺陷的形式以及在生命过程中易发生其他疾病的情况。在这篇综述中，我们总结了 ITs 的临床特征，重点介绍了易发生其他疾病的形式。然后，我们讨论了在临床实践中对 ITs 进行合理诊断的关键问题。最后，我们旨在提供 ITs 治疗的最新和全面的指南，包括止血挑战的管理、严重形式的治疗以及对增加血小板减少症的表现的处理。
