Monge's Disease
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Chronic mountain sickness (CMS) is a disease in which the proportion of blood volume that is occupied by red blood cells increases (
polycythaemia Polycythemia (also known as polycythaemia) is a laboratory finding in which the hematocrit (the volume percentage of red blood cells in the blood) and/or hemoglobin concentration are increased in the blood. Polycythemia is sometimes called eryth ...
) and there is an abnormally low level of oxygen in the blood (
hypoxemia Hypoxemia (also spelled hypoxaemia) is an abnormally low level of oxygen in the blood. More specifically, it is oxygen deficiency in arterial blood. Hypoxemia is usually caused by pulmonary disease. Sometimes the concentration of oxygen in the ...
). CMS typically develops after extended time living at high altitude (over ). It is most common amongst native populations of high altitude nations. The most frequent symptoms of CMS are headache, dizziness,
tinnitus Tinnitus is a condition when a person hears a ringing sound or a different variety of sound when no corresponding external sound is present and other people cannot hear it. Nearly everyone experiences faint "normal tinnitus" in a completely ...
,
breathlessness Shortness of breath (SOB), known as dyspnea (in AmE) or dyspnoea (in BrE), is an uncomfortable feeling of not being able to breathe well enough. The American Thoracic Society defines it as "a subjective experience of breathing discomfort that c ...
,
palpitations Palpitations occur when a person becomes aware of their heartbeat. The heartbeat may feel hard, fast, or uneven in their chest. Symptoms include a very fast or irregular heartbeat. Palpitations are a sensory symptom. They are often described as ...
, sleep disturbance, fatigue,
loss of appetite Anorexia is a medical term for a loss of appetite. While the term outside of the scientific literature is often used interchangeably with anorexia nervosa, many possible causes exist for a loss of appetite, some of which may be harmless, while o ...
, confusion,
cyanosis Cyanosis is the change of Tissue (biology), tissue color to a bluish-purple hue, as a result of decrease in the amount of oxygen bound to the hemoglobin in the red blood cells of the capillary bed. Cyanosis is apparent usually in the Tissue (bi ...
, and dilation of veins. CMS was first described in 1925 by
Carlos Monge Medrano Carlos Monge Medrano (December 13, 1884 in Lima Lima ( ; ), founded in 1535 as the Ciudad de los Reyes (, Spanish for "City of Biblical Magi, Kings"), is the capital and largest city of Peru. It is located in the valleys of the Chillón Ri ...
, a
Peru Peru, officially the Republic of Peru, is a country in western South America. It is bordered in the north by Ecuador and Colombia, in the east by Brazil, in the southeast by Bolivia, in the south by Chile, and in the south and west by the Pac ...
vian doctor who specialised in diseases of high altitude. While
acute mountain sickness Altitude sickness, the mildest form being acute mountain sickness (AMS), is a harmful effect of high altitude, caused by rapid exposure to low amounts of oxygen at high elevation. People's bodies can respond to high altitude in different wa ...
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 , but most cases of CMS occur at over . It has recently been correlated with increased expression of the genes '' ANP32D'' and '' SENP1''.


Diagnosis

CMS is characterised by
polycythaemia Polycythemia (also known as polycythaemia) is a laboratory finding in which the hematocrit (the volume percentage of red blood cells in the blood) and/or hemoglobin concentration are increased in the blood. Polycythemia is sometimes called eryth ...
(with subsequent increased
haematocrit The hematocrit () (Ht or HCT), also known by several other names, is the volume percentage (vol%) of red blood cells (RBCs) in blood, measured as part of a blood test. The measurement depends on the number and size of red blood cells. It is nor ...
) and
hypoxaemia Hypoxemia (also spelled hypoxaemia) is an abnormally low level of oxygen in the blood. More specifically, it is oxygen deficiency in arterial blood. Hypoxemia is usually caused by pulmonary disease. Sometimes the concentration of oxygen in the ...
; raised blood pressure in the lungs (
pulmonary hypertension Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure in the pulmonary artery, arteries of the lungs. Symptoms include dypsnea, shortness of breath, Syncope (medicine), fainting, tiredness, chest pain, pedal edema, swell ...
) can develop over time and in some cases progress to heart failure (
cor pulmonale Pulmonary heart disease, also known as cor pulmonale, is the enlargement and failure of the right ventricle of the heart as a response to increased vascular resistance (such as from pulmonic stenosis) or high blood pressure in the lungs. Chroni ...
). CMS is believed to arise because of an excessive production of red blood cells (
erythrocytes Red blood cells (RBCs), referred to as erythrocytes (, with -''cyte'' translated as 'cell' in modern usage) in academia and medical publishing, also known as red cells, erythroid cells, and rarely haematids, are the most common type of blood cel ...
) due to the low oxygen levels at altitude, which increases the oxygen carrying capacity of the blood. The increased levels of erythrocytes causes increased blood viscosity and uneven blood flow through the lungs ( V/Q mismatch). However, CMS is also considered an adaptation of pulmonary and heart disease to life under chronic hypoxia at altitude. Consensus for clinical diagnosis of CMS use laboratory values:
haemoglobin Hemoglobin (haemoglobin, Hb or Hgb) is a protein containing iron that facilitates the transportation of oxygen in red blood cells. Almost all vertebrates contain hemoglobin, with the sole exception of the fish family Channichthyidae. Hemoglobi ...
in Males ≥ 21 g/dL; Females ≥ 19 g/dL,
haematocrit The hematocrit () (Ht or HCT), also known by several other names, is the volume percentage (vol%) of red blood cells (RBCs) in blood, measured as part of a blood test. The measurement depends on the number and size of red blood cells. It is nor ...
> 65%, and arterial oxygen saturation (SaO2) < 85% in both sexes.


Treatment

Migration to low altitude is curative, though not immediate, as the body adapts to the normal oxygen level near sea-level and the haematocrit normalises. Alternatively, bloodletting (
phlebotomy Phlebotomy is the process of making a puncture in a vein, usually in the arm, with a cannula for the purpose of drawing blood. The procedure itself is known as a venipuncture, which is also used for intravenous therapy. A person who performs a ...
) can be performed to lower the haematocrit temporarily; when combined with volume replacement with fluids this can have a longer effect. Medication with
acetazolamide Acetazolamide, sold under the trade name Diamox among others, is a medication used to treat glaucoma, epilepsy, acute mountain sickness, periodic paralysis, idiopathic intracranial hypertension (raised brain pressure of unclear cause), heart f ...
, a
carbonic anhydrase inhibitor Carbonic anhydrase inhibitors are a class of pharmaceuticals that suppress the activity of carbonic anhydrase. Their clinical use has been established as anti-glaucoma agents, diuretics, antiepileptics, in the management of mountain sickness, g ...
, has been shown to improve chronic mountain sickness by reducing
erythropoietin Erythropoietin (; EPO), also known as erythropoetin, haematopoietin, or haemopoietin, is a glycoprotein cytokine secreted mainly by the kidneys in response to cellular hypoxia; it stimulates red blood cell production ( erythropoiesis) in th ...
and the resulting polycythaemia, which results in better arterial oxygenation and a lower heart rate. Oxygen therapy and training in slow breathing techniques has been shown to reduce symptoms through increasing blood oxygenation.


Epidemiology

Although CMS generally affects people native to altitudes higher than , it does not affect populations around the world equally. A 2013 study reviewed CMS
prevalence rate In epidemiology, prevalence is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seatbelt use) at a specific time. It is derived by comparing the number o ...
s around the world and found the highest rates were found in Andean countries of South America and the lowest rates in people native to the
East African Mountains The East African mountains are a mountain region in the African Great Lakes, within Kenya, Uganda, Tanzania, Democratic Republic of the Congo, Rwanda and Burundi. Location and description The mountains are related to the East African Rift, and ar ...
of Ethiopia. CMS prevalence rates reported from the study are summarised below: * Ethiopia 600–4100 m 0% *
Tibetan Plateau The Tibetan Plateau, also known as the Qinghai–Tibet Plateau or Qingzang Plateau, is a vast elevated plateau located at the intersection of Central Asia, Central, South Asia, South, and East Asia. Geographically, it is located to the north of H ...
(Tibetans): 0.91–1.2% * Indian Himalayas 000–4200 m 4–7% * Kyrgyzstan 000–4200 m 4.6% * Tibetan Plateau (
Han Chinese The Han Chinese, alternatively the Han people, are an East Asian people, East Asian ethnic group native to Greater China. With a global population of over 1.4 billion, the Han Chinese are the list of contemporary ethnic groups, world's la ...
): 5.6% *
La Paz La Paz, officially Nuestra Señora de La Paz (Aymara language, Aymara: Chuqi Yapu ), is the seat of government of the Bolivia, Plurinational State of Bolivia. With 755,732 residents as of 2024, La Paz is the List of Bolivian cities by populati ...
, Bolivia 600 m 6–8% * Bolivia: 8–10% *
Cerro de Pasco Cerro de Pasco is a city in central Peru, located at the top of the Andean Mountains. It is the capital of both the Pasco Province and the Department of Pasco, and an important mining center of silver, copper, zinc and lead. At an elevation of ...
, Peru 300 m 14.8–18.2%


References


External links


Online calculator illustrating blood oxygen carrying capacity at altitude
{{Consequences of external causes Effects of external causes Mountaineering and health