Chronic mountain sickness (CMS) or Monge syndrome is a disease that is prevalent at altitude above 2 500 meters. High altitude polycythemia (HAPC) is one subtype of CMS. EPAS1 and EGNL1 are the most critical high-altitude adaptation genes in the genome of the Tibetan population. The HIF-PHD-VHL system plays an important role in the pathogenesis of HAPC. The protease encoded by the SENP1 gene regulates hypoxia related transcription factors such as HIF and GATA to affect the expression of EPO or EPOR involved in red blood cell generation. With the development of genetic testing and omics technology, new progress in the fields of metabolomics, proteomics and metabolomics has been made in the pathogenesis of HAPC. The above new research results provide a preliminary basis for bone marrow hematoecology and hematopoietic regulation of HAPC. The diagnostic criteria for CMS have certain limitations, especially in patients with excessive erythrocytosis who should undergo genetic testing recommended for congenital and polycythemia vera. This article provides a review of the latest research on HAPC in various omics techniques, hematopoietic regulation and diagnostic processes which is more conducive to understand the pathogenesis. The clinical diagnosis of excessive erythrocytosis emphasizes the importance of genetic testing.
慢性高原病（chronic mountain sickness，CMS）或Monge综合征是一种在海拔超过2 500 m地区流行的疾病，高原红细胞增多症（high altitude polycythemia，HAPC）是CMS的亚型之一。藏族人群基因组中的高原适应基因以EPAS1和EGNL1最为关键；HIF-PHD-VHL蛋白系统在HAPC发病机制中发挥重要的作用；SENP1基因编码一种蛋白酶，具有调节缺氧相关转录因子如HIF和GATA的功能，调节EPO或EPO受体表达参与红细胞生成。随着基因检测和组学技术的发展，关于HAPC发病机制的研究在转录组学、蛋白组学和代谢组学方面取得了一些新的进展，为骨髓血液生态和造血调控方面的研究奠定基础。CMS的诊断标准存在一定的局限性，尤其是高原红细胞增多症患者的诊断应该完善先天性和真性红细胞增多症推荐的基因检测。本文就HAPC在各组学技术、造血调控及诊断流程方面的最新研究作一综述，更有利于对HAPC发病机制的认识，强调基因检测在红细胞增多的临床诊断的重要性。.