Department of Haematology, 'C' Floor, Belfast City Hospital, Queen's University Belfast, Lisburn Road, Belfast, BT9 7AB, Northern Ireland, UK.
Ther Adv Hematol. 2012 Dec;3(6):391-8. doi: 10.1177/2040620712458947.
An erythrocytosis occurs when there is an increased red-cell mass. The causes of erythrocytosis are divided into primary, when there is an intrinsic defect in the erythroid cell, and secondary, when the cause is extrinsic to the erythroid cell. An idiopathic erythrocytosis occurs when the increased red-cell mass has no identifiable cause. Primary and secondary defects can be further classified as either congenital or acquired causes. The diagnostic pathway starts with a careful history and examination followed by measurement of the erythropoietin (EPO) levels. This allows a division of those patients with a low EPO level, who can then be investigated for primary causes of erythrocytosis, and those with a normal or high EPO level, where the oxygen-sensing pathway needs to be explored further. Physiological studies in those with congenital defects in the oxygen-sensing pathway show many changes in the downstream metabolism adapting to the defect, which has a bearing on the management of the disorders. Low-dose aspirin and venesection to an achievable target are the main therapeutic options that can be considered in the management of erythrocytosis. Specific guidance on venesection options should be considered with certain causes such as high oxygen-affinity hemoglobins.
当红细胞数量增加时，就会发生红细胞增多症。红细胞增多症的原因分为原发性的，即红系细胞内在缺陷引起的，和继发性的，即红系细胞外的原因引起的。特发性红细胞增多症是指红细胞数量增加的原因无法确定。原发性和继发性缺陷可以进一步分为先天性或后天性原因。诊断途径从详细的病史和检查开始，然后测量促红细胞生成素 (EPO) 水平。这可以将那些 EPO 水平低的患者进行分类，然后对他们进行原发性红细胞增多症的病因调查，以及那些 EPO 水平正常或高的患者，需要进一步探索氧感应途径。对氧感应途径先天性缺陷患者的生理研究表明，下游代谢有许多适应缺陷的变化，这对疾病的治疗有影响。小剂量阿司匹林和放血到可达到的目标是红细胞增多症治疗的主要选择。应该考虑某些原因的具体放血选择指导，例如高氧亲和力血红蛋白。
