Chronic mountain sickness

Last updated
Chronic mountain sickness
Other namesMonge's disease
Specialty Emergency medicine

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]

Contents

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]

Diagnosis

CMS is characterised by polycythaemia (with subsequent increased haematocrit) and hypoxaemia; raised blood pressure in the lungs (pulmonary hypertension) can develop over time and in some cases progress to heart failure (cor pulmonale). [1] CMS is believed to arise because of an excessive production of red blood cells (erythrocytes) 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. [6]

Consensus for clinical diagnosis of CMS use laboratory values: haemoglobin in Males ≥ 21 g/dL; Females ≥ 19 g/dL, haematocrit > 65%, and arterial oxygen saturation (SaO2) < 85% in both sexes. [1]

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) can be performed to lower the haematocrit temporarily; when combined with volume replacement with fluids this can have a longer effect. [1]

Medication with acetazolamide, a carbonic anhydrase inhibitor, has been shown to improve chronic mountain sickness by reducing erythropoietin and the resulting polycythaemia, which results in better arterial oxygenation and a lower heart rate. [7]

Oxygen therapy and training in slow breathing techniques has been shown to reduce symptoms through increasing blood oxygenation. [1]

Epidemiology

Although CMS generally affects people native to altitudes higher than 3,000 metres (9,800 ft), it does not affect populations around the world equally. A 2013 study [8] reviewed CMS prevalence rates 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 of Ethiopia. CMS prevalence rates reported from the study are summarised below:

Related Research Articles

<span class="mw-page-title-main">Hypoxia (medical)</span> Medical condition of lack of oxygen in the tissues

Hypoxia is a condition in which the body or a region of the body is deprived of adequate oxygen supply at the tissue level. Hypoxia may be classified as either generalized, affecting the whole body, or local, affecting a region of the body. Although hypoxia is often a pathological condition, variations in arterial oxygen concentrations can be part of the normal physiology, for example, during strenuous physical exercise.

<span class="mw-page-title-main">Decompression sickness</span> Disorder caused by dissolved gases emerging from solution

Decompression sickness is a medical condition caused by dissolved gases emerging from solution as bubbles inside the body tissues during decompression. DCS most commonly occurs during or soon after a decompression ascent from underwater diving, but can also result from other causes of depressurisation, such as emerging from a caisson, decompression from saturation, flying in an unpressurised aircraft at high altitude, and extravehicular activity from spacecraft. DCS and arterial gas embolism are collectively referred to as decompression illness.

<span class="mw-page-title-main">Altitude sickness</span> Medical condition due to rapid exposure to low oxygen at high altitude

Altitude sickness, the mildest form being acute mountain sickness (AMS), is the harmful effect of high altitude, caused by rapid exposure to low amounts of oxygen at high elevation. People can respond to high altitude in different ways. Symptoms may include headaches, vomiting, tiredness, confusion, trouble sleeping, and dizziness. Acute mountain sickness can progress to high-altitude pulmonary edema (HAPE) with associated shortness of breath or high-altitude cerebral edema (HACE) with associated confusion. Chronic mountain sickness may occur after long-term exposure to high altitude.

<span class="mw-page-title-main">Acetazolamide</span> Chemical compound

Acetazolamide, sold under the trade name Diamox among others, is a medication used to treat glaucoma, epilepsy, altitude sickness, periodic paralysis, idiopathic intracranial hypertension, heart failure and to alkalinize urine. It may be used long term for the treatment of open angle glaucoma and short term for acute angle closure glaucoma until surgery can be carried out. It is taken by mouth or injection into a vein. Acetazolamide is a first generation carbonic anhydrase inhibitor and it decreases the ocular fluid and osmolality in the eye to decrease intraocular pressure.

<span class="mw-page-title-main">Hematocrit</span> Volume percentage of red blood cells in blood

The hematocrit, 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 normally 40.7–50.3% for males and 36.1–44.3% for females. It is a part of a person's complete blood count results, along with hemoglobin concentration, white blood cell count and platelet count.

Hypoventilation occurs when ventilation is inadequate to perform needed respiratory gas exchange. By definition it causes an increased concentration of carbon dioxide (hypercapnia) and respiratory acidosis. Hypoventilation is not synonymous with respiratory arrest, in which breathing ceases entirely and death occurs within minutes due to hypoxia and leads rapidly into complete anoxia, although both are medical emergencies. Hypoventilation can be considered a precursor to hypoxia and its lethality is attributed to hypoxia with carbon dioxide toxicity.

<span class="mw-page-title-main">Polycythemia</span> Laboratory diagnosis of high hemoglobin content in blood

Polycythemia is a laboratory finding in which the hematocrit and/or hemoglobin concentration are increased in the blood. Polycythemia is sometimes called erythrocytosis, and there is significant overlap in the two findings, but the terms are not the same: polycythemia describes any increase in hematocrit and/or hemoglobin, while erythrocytosis describes an increase specifically in the number of red blood cells in the blood.

<span class="mw-page-title-main">Death zone</span> Mountaineering term

In mountaineering, the death zone refers to altitudes above a certain point where the pressure of oxygen is insufficient to sustain human life for an extended time span. This point is generally tagged as 8,000 m. The concept was conceived in 1953 by Edouard Wyss-Dunant, a Swiss doctor, who called it the lethal zone. All 14 peaks above 8000 m in the death zone are located in the Himalaya and Karakoram of Asia.

<span class="mw-page-title-main">High-altitude pulmonary edema</span> Human disease

High-altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema that occurs in otherwise healthy people at altitudes typically above 2,500 meters (8,200 ft). However, cases have also been reported between 1,500–2,500 metres or 4,900–8,200 feet in more vulnerable subjects.

<span class="mw-page-title-main">Hypoxemia</span> Abnormally low level of oxygen in the blood

Hypoxemia is an abnormally low level of oxygen in the blood. More specifically, it is oxygen deficiency in arterial blood. Hypoxemia has many causes, and often causes hypoxia as the blood is not supplying enough oxygen to the tissues of the body.

High-altitude cerebral edema (HACE) is a medical condition in which the brain swells with fluid because of the physiological effects of traveling to a high altitude. It generally appears in patients who have acute mountain sickness and involves disorientation, lethargy, and nausea among other symptoms. It occurs when the body fails to acclimatize while ascending to a high altitude.

<span class="mw-page-title-main">2,3-Bisphosphoglyceric acid</span> Chemical compound

2,3-Bisphosphoglyceric acid (2,3-BPG), also known as 2,3-diphosphoglyceric acid (2,3-DPG), is a three-carbon isomer of the glycolytic intermediate 1,3-bisphosphoglyceric acid (1,3-BPG).

<span class="mw-page-title-main">Carbonic anhydrase inhibitor</span> Class of pharmaceuticals

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, gastric and duodenal ulcers, idiopathic intracranial hypertension, neurological disorders, or osteoporosis.

<span class="mw-page-title-main">Effects of high altitude on humans</span> Environmental effects on physiology

The effects of high altitude on humans are mostly the consequences of reduced partial pressure of oxygen in the atmosphere. The oxygen saturation of hemoglobin determines the content of oxygen in blood. After the human body reaches around 2,100 metres (6,900 ft) above sea level, the saturation of oxyhemoglobin begins to decrease rapidly. However, the human body has both short-term and long-term adaptations to altitude that allow it to partially compensate for the lack of oxygen. There is a limit to the level of adaptation; mountaineers refer to the altitudes above 8,000 metres (26,000 ft) as the death zone, where it is generally believed that no human body can acclimatize. At extreme altitudes, the ambient pressure can drop below the vapor pressure of water at body temperature, but at such altitudes even pure oxygen at ambient pressure cannot support human life, and a pressure suit is necessary. A rapid depressurisation to the low pressures of high altitudes can trigger altitude decompression sickness.

Fabiola León-Velarde Servetto is a Peruvian physiologist who has devoted her research to the biology and physiology of high altitude adaptation. Born in Lima, Peru. She is the daughter of Carlos Leon-Velarde Gamarra and Juana Servetto Marti from Uruguay, and granddaughter of Angelica Gamarra. Under the mentorship of high altitude physiologist Carlos Monge Cassinelli, she obtained a BSc. in Biology (1979), an MSc (1981) and DSc (1986) in physiology at Cayetano Heredia University in Lima, Perú.

<span class="mw-page-title-main">EPAS1</span> Protein-coding gene in the species Homo sapiens

Endothelial PAS domain-containing protein 1 is a protein that is encoded by the EPAS1 gene in mammals. It is a type of hypoxia-inducible factor, a group of transcription factors involved in the physiological response to oxygen concentration. The gene is active under hypoxic conditions. It is also important in the development of the heart, and for maintaining the catecholamine balance required for protection of the heart. Mutation often leads to neuroendocrine tumors.

Hypoxic ventilatory response (HVR) is the increase in ventilation induced by hypoxia that allows the body to take in and transport lower concentrations of oxygen at higher rates. It is initially elevated in lowlanders who travel to high altitude, but reduces significantly over time as people acclimatize. In biological anthropology, HVR also refers to human adaptation to environmental stresses resulting from high altitude.

<span class="mw-page-title-main">Organisms at high altitude</span> Organisms capable of living at high altitudes

Organisms can live at high altitude, either on land, in water, or while flying. Decreased oxygen availability and decreased temperature make life at such altitudes challenging, though many species have been successfully adapted via considerable physiological changes. As opposed to short-term acclimatisation, high-altitude adaptation means irreversible, evolved physiological responses to high-altitude environments, associated with heritable behavioural and genetic changes. Among animals, only few mammals and certain birds are known to have completely adapted to high-altitude environments.

Gustavo Zubieta-Castillo was a Bolivian physician, high altitude medicine expert, physiologist, army surgeon, writer, painter, who was named as the "Mountain Guru" at the St. John's Medical College in Bangalore, India.

High-altitude adaptation in humans is an instance of evolutionary modification in certain human populations, including those of Tibet in Asia, the Andes of the Americas, and Ethiopia in Africa, who have acquired the ability to survive at altitudes above 2,500 meters. This adaptation means irreversible, long-term physiological responses to high-altitude environments, associated with heritable behavioural and genetic changes. While the rest of the human population would suffer serious health consequences, the indigenous inhabitants of these regions thrive well in the highest parts of the world. These humans have undergone extensive physiological and genetic changes, particularly in the regulatory systems of oxygen respiration and blood circulation, when compared to the general lowland population.

References

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