[Progress in multiomics research on high altitude polycythemia]

Area of Science:

• Genetics and Molecular Biology
• Altitude Medicine
• Hematology

Background:

• Chronic mountain sickness (CMS), or Monge syndrome, affects individuals above 2,500 meters.
• High altitude polycythemia (HAPC) is a subtype of CMS.
• EPAS1 and EGNL1 are key high-altitude adaptation genes in Tibetans.

Purpose of the Study:

• To review recent advancements in understanding the pathogenesis of HAPC.
• To highlight the role of omics technologies and genetic testing in HAPC diagnosis.
• To discuss hematopoietic regulation and diagnostic criteria for CMS and HAPC.

Main Methods:

• Review of current literature on HAPC pathogenesis.
• Analysis of omics techniques (metabolomics, proteomics) in HAPC research.
• Evaluation of genetic factors (EPAS1, EGNL1, SENP1) and the HIF-PHD-VHL system.

Main Results:

• The HIF-PHD-VHL system and SENP1 protease are crucial in HAPC pathogenesis.
• Omics technologies provide new insights into HAPC pathophysiology.
• Current CMS diagnostic criteria have limitations, especially for excessive erythrocytosis.

Conclusions:

• Genetic testing is vital for diagnosing excessive erythrocytosis, differentiating HAPC from other polycythemias.
• Advances in omics and understanding hematopoietic regulation improve HAPC pathogenesis insights.
• Further research is needed to refine diagnostic and therapeutic strategies for HAPC.