High-altitude polycythemia: State-of-the-art review

This review summarizes the research progress on high-altitude polycythemia (HAPC). At the fundamental theoretical level, it provides an in-depth analysis of the epidemiological characteristics influenced by factors such as altitude, genetics, and gender, as well as the pathological mechanisms triggered by chronic hypoxia, including alterations in gene expression, immune imbalance, and disorders of iron metabolism. In the section on clinical manifestations and diagnosis, the multisystem symptoms are elaborated in detail, diagnostic criteria based on hematological indicators combined with high-altitude residence history are clarified, and the key points for differentiating HAPC from primary and other secondary polycythemia are summarized. Regarding treatment strategies, the current application and efficacy of pharmaceutical interventions, non-pharmaceutical methods such as therapeutic erythrocytapheresis (TE), and comprehensive treatment regimens are outlined. Technological advancements focus on genetic research, biomarker development, and imaging technology innovation, providing support for precise diagnosis and treatment. A review of historical development and current status reveals the evolution of research, clarifies present trends in disease prevalence, and identifies challenges in diagnosis and treatment. In the outlook for the future, innovative preventive strategies are proposed, including health education, genetic screening, and the development of novel drug formulations. The research direction of multidisciplinary integration is emphasized, such as elucidating the gene-environment interaction mechanism and developing targeted drugs. Meanwhile, controversial issues including understanding of etiology, evaluation of treatment efficacy, and ethical and social implications, aiming to provide a systematic reference for HAPC research and clinical practice.