Wille Kai, Sadjadian Parvis, Griesshammer Martin
Dtsch Med Wochenschr. 2019 Jan;144(2):128-135. doi: 10.1055/a-0739-8340. Epub 2019 Jan 23.
Due to its rare incidence, erythrocytosis frequently represents a challenge for the treating doctors. The erythropoiesis (= production of erythrocytes) is located in the bone marrow, and the hormone erythropoietin (EPO) takes control in its regulation. Therefore, measurement of EPO in serum is one of the main diagnostic steps. In erythrocytosis, congenital causes have to be distinguished from acquired ones. Furthermore, there are primary and secondary forms. Congenital causes of erythrocytoses occur very infrequently, are mainly diagnosed in young age and should be treated in specialized centers. Polycythemia vera (PV), a clonal disorder and one of the main myeloproliferative neoplasms (beside essential thrombocythemia and primary myelofibrosis), represents the most frequent primary acquired cause of erythrocytosis. Clinically, increased thrombophilia and microvascular disturbance occur. The first-line treatment in patients with PV includes administration of aspirin and phlebotomies. Secondary acquired forms of erythrocytosis mainly occur due to hypoxia triggered by nicotine abuse or chronic heart and lung diseases. Regarding other differential diagnoses, a cancer-associated EPO production, kidney diseases or exogenous supply with EPO (= EPO doping) have to be considered.
由于红细胞增多症发病率低，它常常给治疗医生带来挑战。红细胞生成（即红细胞的产生）发生在骨髓中，激素促红细胞生成素（EPO）控制其调节过程。因此，血清EPO的检测是主要诊断步骤之一。在红细胞增多症中，必须区分先天性病因和后天性病因。此外，还有原发性和继发性形式。红细胞增多症的先天性病因非常罕见，主要在年轻时被诊断出来，应在专科中心进行治疗。真性红细胞增多症（PV）是一种克隆性疾病，也是主要的骨髓增殖性肿瘤之一（除原发性血小板增多症和原发性骨髓纤维化外），是红细胞增多症最常见的原发性后天性病因。临床上，会出现血栓形成倾向增加和微血管紊乱。PV患者的一线治疗包括使用阿司匹林和放血疗法。继发性后天性红细胞增多症主要由于尼古丁滥用或慢性心肺疾病引发的缺氧所致。关于其他鉴别诊断，必须考虑癌症相关的EPO产生、肾脏疾病或外源性EPO供应（即EPO兴奋剂）。
