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Myeloproliferative syndromes: types and causes

Myeloproliferative syndromes: types and causes

September 15, 2022

Most people know the term leukemia. He knows that this is a very aggressive and dangerous type of cancer in which the cancer cells are found in the blood, which affects from babies to the elderly and probably also originates in the bone marrow. It is one of the best known myeloproliferative syndromes. But it is not unique.

In this article we will describe briefly what are the myeloproliferative syndromes and we will indicate some of the most frequent.

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Myeloproliferative syndrome: what are they?

The myeloproliferative syndromes are a set of syndromes characterized by the presence of a excessive and accelerated growth and reproduction of one or more blood or blood cell types ; specifically of the myeloid lines. In other words, there is an excess of some type of blood cells.


These types of problems originate due to excessive production of stem cells that will end up producing red, white or platelet cells. In adults these cells are produced only by the bone marrow, although during the development spleen and liver also have the ability to produce them. These two organs tend to grow in these diseases because the excessive presence of myeloids in blood causes them to recover this function, which in turn causes an even greater increase in the number of blood cells.

While Symptoms may vary according to myeloproliferative syndromes of which we are speaking, usually coincide in appearing typical problems of anemia, such as the presence of weakness and physical and mental fatigue. It is also frequent that there are gastrointestinal and respiratory problems, weight loss and appetite, fainting and vascular problems.


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Why are they produced?

The causes of these diseases are associated with mutations in the Jak2 gene of chromosome 9, which causes erythropoietic stimulating factor or EPO acts continuously (in subjects without this mutations EPO only acts when necessary).

In most cases these mutations are not hereditary but acquired. It is speculated that can influence the presence of chemicals, exposure to radiation or poisoning .

Some of the major myeloproliferative syndromes

Although with the passage of time new syndromes and variants of these are discovered, in general Myeloproliferative syndromes are classified into four types , differentiated greatly by the type of blood cells that proliferate.


1. Chronic myeloid leukemia

The disease discussed in the introduction is one of the different leukemias and one of the most well-known myeloproliferative syndromes. This type of leukemia is caused by the excessive proliferation of a type of white blood cell known as granulocyte.

Fatigue and asthenia, bone pain, infections and hemorrhages are frequent. In addition, it will produce different symptoms depending on the organs where the cells are infiltrated.

It usually appears in three phases: chronic, in which asthenia appears and loss of that due to the viscosity of the blood, loss of appetite, renal insufficiency and abdominal pain (when it is usually diagnosed); the accelerated one, in which problems such as fever, anemia, infections and thrombosis arise (this being the phase in which a bone marrow transplant is usually used); and the blast, in that the symptoms get worse and the level of cancer cells exceeds twenty percent . Chemo and radiotherapy are often used, along with other drugs that fight cancer.

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2. Polycythemia vera

Polycythemia vera is one of the disorders classified within the myeloproliferative syndromes. In polycythemia vera cells of the bone marrow cause the appearance of erythrocytosis or the excessive presence of red blood cells (the cells that carry oxygen and nutrients to other structures of the body) in the blood. More than the number of globules, what marks the emergence of this disease is the amount of hemoglobin which is transported. A higher number of white blood cells and platelets is also observed.

The blood becomes denser and more viscous , which can cause occlusions and thrombosis, as well as unexpected hemorrhages. Typical symptoms include flushing, congestion, weakness, itching and pain of varying intensity (especially in the abdomen, dizziness and even vision problems.One of the most specific symptoms is generalized itching throughout the body. Also the pain with redness of the extremities is frequent, caused by the occlusion and circulation difficulties in the small blood vessels. Uric acid also usually shoots up.

Even though It is serious, chronic and precise treatment and control of possible complications , this disease does not usually shorten the life expectancy of the sufferer if it is treated correctly.

3. Essential thrombocythemia

This syndrome is characterized by the production and excessive presence of platelets in the blood. These cells fulfill mainly the function of coagulating the blood and they are related to the healing capacity of the wounds.

The main problems that this disease can cause is the provocation of thrombosis and hemorrhages in the subject, which could have serious repercussions on health and even end life of the subject if they occur in brain or heart. It can lead to myelofibrosis, which is much more complex.

In general, it is considered that this problem does not necessarily shorten the life of those who suffer from it, although periodic checks must be carried out to control the level of platelets and, if necessary, reduce it by treatment.

4. Myelofibrosis

Myelofibrosis is a disorder. It can be primary if it appears by itself or secondary if it is derived from another disease.

Myelofibrosis is one of the most complex myeloproliferative syndromes . On this occasion, the bone marrow stem cells that should produce the blood cells excessively generate them in such a way that, in the long run, increases are generated in the fibers of the marrow that end up causing the growth of a species of scar tissue that takes the place of the marrow. Blood cells, too, end up coming out immature and unable to perform their functions in a normative manner.

The main symptoms are due to anemia caused by the immaturity of blood cells , the excessive growth of the spleen caused by this and alterations in the metabolism. Thus, fatigue, asthenia, sweating, abdominal pain, diarrhea, weight loss and edema are common.

Myelofibrosis is a serious illness in which anemia eventually appears and even a drastic reduction in the number of functional platelets that can cause severe bleeding. In some cases it can lead to suffering from leukemia.

Bibliographic references:

  • Hern√°ndez, L .; Besses, C. and Cervantes, F. (2015). Myeloproliferative syndromes. General information for the patient. AEAL Explain. Madrid.

What are myeloproliferative disorders? | Hematologic System Diseases | NCLEX-RN | Khan Academy (September 2022).


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