Chronic mountain sickness (CMS) is a disease in which the proportion of blood volume that is occupied by red blood cells increases (polycythaemia) and there is an abnormally low level of oxygen in the blood (hypoxemia). CMS typically develops after extended time living at high altitude (over 2,500 metres (8,200 ft)). It is most common amongst native populations of high altitude nations.[1] The most frequent symptoms of CMS are headache, dizziness, tinnitus, breathlessness, palpitations, sleep disturbance, fatigue, loss of appetite, confusion, cyanosis, and dilation of veins.[2]
CMS was first described in 1925 by Carlos Monge Medrano, a Peruvian doctor who specialised in diseases of high altitude.[3] While acute mountain sickness is experienced shortly after ascent to high altitude, chronic mountain sickness may develop only after many years of living at high altitude. In medicine, high altitude is defined as over 2,500 metres (8,200 ft), but most cases of CMS occur at over 3,000 metres (9,800 ft).
It has recently been correlated with increased expression of the genes ANP32D and SENP1.[4][5]
^Cite error: The named reference Leon was invoked but never defined (see the help page).
^Wu, TY (20 January 2005). "Chronic mountain sickness on the Qinghai-Tibetan plateau". Chinese Medical Journal. 118 (2): 161–8. PMID 15667803.
^Monge, CC; Whittembury, J (December 1976). "Chronic mountain sickness". The Johns Hopkins Medical Journal. 139 SUPPL: 87–9. PMID 1011412.
^Zhou, D; Udpa, N; Ronen, R; Stobdan, T; Liang, J; et al. (5 September 2013). "Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders". American Journal of Human Genetics. 93 (3): 452–62. doi:10.1016/j.ajhg.2013.07.011. PMC 3769925. PMID 23954164.
^Cole, AM; Petousi, N; Cavalleri, GL; Robbins, PA (December 2014). "Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness". High Altitude Medicine & Biology. 15 (4): 497–9. doi:10.1089/ham.2014.1036. PMC 4273201. PMID 25225945.
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