Hematology Division, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD.
Blood. 2019 Jul 25;134(4):341-352. doi: 10.1182/blood.2018834044. Epub 2019 May 31.
Since its discovery, polycythemia vera (PV) has challenged clinicians responsible for its diagnosis and management and scientists investigating its pathogenesis. As a clonal hematopoietic stem cell (HSC) disorder, PV is a neoplasm but its driver mutations result in overproduction of morphologically and functionally normal blood cells. PV arises in an HSC but it can present initially as isolated erythrocytosis, leukocytosis, thrombocytosis, or any combination of these together with splenomegaly or myelofibrosis, and it can take years for a true panmyelopathy to appear. PV shares the same mutation as essential thrombocytosis and primary myelofibrosis, but erythrocytosis only occurs in PV. However, unlike secondary causes of erythrocytosis, in PV, the plasma volume is frequently expanded, masking the erythrocytosis and making diagnosis difficult if this essential fact is ignored. PV is not a monolithic disorder: female patients deregulate fewer genes and clinically behave differently than their male counterparts, while some PV patients are genetically predisposed to an aggressive clinical course. Nevertheless, based on what we have learned over the past century, most PV patients can lead long and productive lives. In this review, using clinical examples, I describe how I diagnose and manage PV in an evidence-based manner without relying on chemotherapy.
自发现以来，真性红细胞增多症（PV）一直挑战着负责其诊断和管理的临床医生和研究其发病机制的科学家。作为一种克隆性造血干细胞（HSC）疾病，PV 是一种肿瘤，但它的驱动突变导致形态和功能正常的血细胞过度产生。PV 起源于 HSC，但它最初可能表现为孤立性红细胞增多症、白细胞增多症、血小板增多症，或这些症状与脾肿大或骨髓纤维化的任何组合，并且可能需要数年时间才会出现真正的全髓病。PV 与原发性血小板增多症和原发性骨髓纤维化具有相同的突变，但只有在 PV 中才会发生红细胞增多症。然而，与继发性红细胞增多症不同，如果忽略这个基本事实，PV 中的血浆容量经常扩大，掩盖了红细胞增多症，使诊断变得困难。PV 不是一种单一的疾病：女性患者的基因失调较少，临床表现与男性患者不同，而一些 PV 患者在遗传上易患侵袭性临床病程。然而，基于我们在过去一个世纪中学到的知识，大多数 PV 患者可以过上长寿和富有成效的生活。在这篇综述中，我通过使用临床实例，描述了我如何在不依赖化疗的情况下，以循证的方式诊断和管理 PV。
