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Vaquez’s disease Symptoms and Treatment

What is it ?

Vaquez’s disease is a chronic, progressive disorder that is characterized by an excess of red blood cells, causing the blood to thicken and exposing the person to the risk of thrombosis. It is also referred to as primary polycythemiaemia or polycythemia vera and belongs to the group of myeloproliferative syndromes. It usually occurs after age 50 and affects 10 to 15 people per 100,000 every year. A well-managed treatment allows the patient to lead a normal life.

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Symptoms of Vaquez’s disease

It is often at the chance of a blood test that the disease is detected, because few of the symptoms of Vaquez’s disease are specific and its evolution is slow and progressive:

  • Areas of the skin and mucous membranes become red, often on the face and hands, mouth and eyelids. We talk about skin erythrosis. Very painful “erythromelalgia” attacks can occur, with the person suffering from burning sensation in the hands and feet reddened. Skin contact with hot water may cause itching .
  • Headaches, headaches, vertigo, tinnitus , blurred vision and tingling in the fingertips are some of the non-specific symptoms of Vasculitis, related to the bad oxygenation of organs.

The origins of the disease

95% of the cases of Vaquez disease originate from a mutation of the JAK2 gene, identified by a blood test. This gene plays a particularly important role in the production of blood cells from stem cells located in the bone marrow. Because of this genetic mutation, the bone marrow begins to produce excess red blood cells (hence its name “polycythemia”) and with a longer life span. The excessive concentration of red blood cells in relation to the total volume of the blood causes a thickening of the blood, which flows more slowly, no longer provides enough oxygen to the organs and increases the risk of blood clots forming. A person with Vaquez’s disease is therefore exposed to the risk of thrombosis deep vein, heart attack, stroke and pulmonary embolism, caused by blood clots in the heart, brain and lung.

Risk factors for Vaquez’s disease

It is important to note that the mutation of the JAK2 gene mentioned above is acquired during life and that Vaquez’s disease is therefore not hereditary. It is not contagious either. The disease is a little more common in men than women (without reason being known) and usually occurs between 50 and 70 years.

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Prevention and treatment of Vaquez’s disease

Vaquez’s disease is not cured, but treatments allow the patient to lead a normal life and limit the associated vascular risks. Regular bleeding (phlebotomies) aims to reduce the total volume of blood in the body to improve blood circulation. The red blood cell count is reduced by so-called “myelosuppressive” drugs, the most commonly used of which is hydroxyurea. Low dose aspirin reduces the risk of blood clots.

Vaquez’s disease can lead to serious long-term complications such as enlarged spleen (splenomegaly), heart disease, leukemia and idiopathic myelofibrosis.

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