(chronic mountain sickness, Andes mountains disease, high altitudes polycythemia)

This condition must be distinguished from acute mountain sickness although it has some points in common with it. It is more particularly observed in people living at high altitude (> 2500-3000 meters) and more specifically among the Indians of South America living in the Andean Highlands. Two genes located on chromosome 19 are associated: SENP1, that regulates erythropoiesis and ANP32D, a pro-oncogene. It is characterized by an abnormally high concentration of red blood cells in the blood during a prolonged stay in altitude. It is a form of excessive adaptation of the cardiopulmonary system to the rarefaction of oxygen in the air at high altitude. The increased level of red blood cells (hematocrit > 65%) increases the transport of oxygen in the tissues, but also increases blood viscosity that may be at the origin of cardiovascular accidents (heart attack, stroke).

The main symptoms: important asthenia, headache, confusional episodes and nausea associated with cyanosis during efforts. Recovery is spontaneous after returning to low altitude

Anesthetic implications:

check the hemoglobin level; avoid dehydration; thromboprophylaxis

References:

-        Zhou D, Udpa N, Ronen R, Stobdan T et al.
Whole-genome sequencing uncovers the genetic basis of chronic mountain disease in Andean highlanders.
Am J Human Gen 2013; 93: 452-62

Updated: January 2017