Essential thrombocythemia( ET) has several synonyms. In the medical literature, it can be referred to as megakaryocytic leukemia, primary thrombocytosis, hemorrhagic thrombocythemia, idiopathic thrombocytosis.
All these complex terms indicate that essential thrombocythemia can be attributed to hemoblastoses - tumor diseases of the hematopoietic and lymphatic tissues. This disease affects the stem cells of the red bone marrow - megakaryocytes, which at the initial stage begin to uncontrollably multiply, and then also uncontrolledly synthesize platelets.
Causes of Essential Thrombocythemia
Because primary essential thrombocythemia is an oncological disease, the true causes of its occurrence are as yet unknown to anyone.
There is a hypothesis that the impetus to the onset of bone marrow stem cell damage gives rise to radiation contamination of environmental resources.
Regarding secondary essential thrombocythemia, it may be a consequence of:
- of an advanced infectious disease;
- operations to remove the spleen;
- severe bleeding;
- systemic lesions of internal organs - sarcoidosis;
- of advanced arthritis( usually rheumatoid);
- a number of malignant cancers.
Epidemiology
- Essential thrombocythemia is rare: from one hundred thousand adult citizens, only three or four people can suffer from its manifestations( according to other sources, only one case per million inhabitants per year).
- This disease has two peaks: the first occurs in thirty or forty-year-old patients. In this age category, cases of essential thrombocythemia in young women are detected twice as often. The second peak of morbidity was noted in people over fifty years old. At this age, the incidence of diseases in both sexes is almost the same.
- Cases of primary thrombocytosis in adolescents and young children between the ages of two and thirteen are extremely rare.
Symptoms of
In almost one third of all cases, essential thrombocythemia does not show itself for quite some time.
Progression of the pathological process is very slow. Often the first abnormalities in blood tests and the beginning of complaints about worsening of well-being share not just months, but a series of years.
- At the beginning, patients notice a decrease in working capacity, frequent headaches, a tendency to nausea and systematic dizziness and the presence of a number of neurological manifestations that indicate the disruption of the normal operation of the cerebral arteries. This group of symptoms in ET specialists are called nonspecific.
- Patients have a paradoxical combination of propensity to develop spontaneous bleeding and the formation of blood clots. With a tendency to bleeding, doctors say there is a hemorrhagic syndrome - one of the most characteristic manifestations of ET.The presence of this syndrome is noted in about half of all cases of the disease. The patients bleed gums heavily, hemorrhages appear on the surface of the skin. Cases of renal, pulmonary, gastrointestinal hemorrhages, as well as secretions of blood from the urinary tract are common. The severity of bleeding may be different.
- Thrombosis of arteries with essential thrombocythemia are most often peripheral, cerebral and coronary. There are cases of deep vein thrombosis on the legs, as well as thromboembolism of the pulmonary artery.
- Increased platelet synthesis can lead to the development of erythromelalgia - an extremely painful condition, accompanied by sharp throbbing pains, localized exclusively in the limbs. Exhausting the patient at the time of heavy loads, they subsided from the effects of cold or during rest. The presence of this symptom often leads to a dystrophic change in the affected limbs.
- Thrombosis of small vessels also result in the formation of trophic ulcers, the development of gangrene and dry necrosis of the fingertips on the hands and feet. There may be a complete loss of sensitivity in the earlobes and at the tip of the nose, due to impaired circulation of blood in the smallest vessels.
- Small bruises and pinpoint hemorrhages( petechiae) appear spontaneously on the skin of patients. This is another characteristic manifestation of ET.
- Half of the patients showed a significant increase in the spleen, in the fifth part - augmentation of the liver.
- Essential thrombocythemia, affecting the body of a pregnant woman, can provoke multiple placenta infarctions and become the culprit of placental insufficiency. This pregnancy often ends either with spontaneous abortion( in 35% of cases) or with premature birth. It is quite possible and premature detachment of the placenta. A child who has developed a mother suffering from ET can experience significant delays in mental, intellectual and physical development.
- Most patients suffering from ET significantly lose weight. In some of them, the whole groups of lymph nodes are enlarged.
Diagnostics of ET
- During a medical examination, a specialist for a number of signs can state the presence of blood vessel thrombosis and the fact of an increase in the spleen and liver.
- The level of increase in platelets is established using a general blood test.
- To determine how the blood coagulation system works, the patient is assigned a coagulogram. Subsequently, it monitors the effectiveness of the prescribed treatment.
- When suspicion of essential thrombocythemia is performed, bone marrow tissue studies using trepanobiopsy and aspiration biopsy. To take samples, use the iliac bone and sternum. The study of the tissues taken gives an answer to the question of whether there is an increase in megakaryocytes( giant cells that give rise to the formation of platelets) and mature platelets.
- A number of special molecular genetic and cytogenetic studies are conducted to identify the characteristic mutations.
- Additional studies( colonoscopy of the intestine, lung radiography, ultrasound of internal organs, fibrogastroscopy) reveal or exclude the presence of symptomatic thrombocytosis accompanying malignant cancerous tumors, acute and chronic bleeding, as well as chronic and acute infections.
Doctors who treat the disease
An entire group of specialists is engaged in the treatment of essential thrombocythemia. Because it is detected as a result of a routine blood test, the first doctor deciding which specialist to refer the patient to is the therapist.
The final diagnosis is not made immediately, but only after careful collection of anamnesis, observation of the patient and conducting a comprehensive examination of blood and internal organs. The tactics of further treatment and interaction with an oncologist depends on the severity of the disease and the specificity of its manifestations.
Therapeutic tactic
- A competent specialist knows that in the absence of severe symptoms, essential thrombocythemia does not need treatment. Even a high platelet count in the blood can not be considered an indication for the onset of immediate radical treatment. The best tactics for asymptomatic young patients, as well as for elderly patients with a low risk of developing thrombosis, is the rejection of chemotherapy. It has long been proven that young patients whose illness is asymptomatic can do well without any treatment for many years. Given this circumstance, such patients are left under the supervision of a hematologist. Treatment begins only in the case of complications.
- If there is a high risk of thrombosis, chemotherapy with cytostatics is used. At the first stage, it is designed to reduce platelet levels to a certain( below 60,000 1 / μL) values. In the case of repeated thrombosis, the doses of the drugs are increased. As a result, the number of platelets in the blood is close to normal.
- When thrombosis of small arteries, involving all kinds of visual impairment, the development of transient ischemia of the brain and erythromelalgia of patients are treated with antiaggregants - drugs that inhibit the process of thrombosis. The impact of these drugs leads to the fact that platelets, becoming less sticky, partially lose the ability to adhere - adherence to the walls of blood vessels. One of the most effective antiplatelet agents is known to all aspirin( acetylsalicylic acid).All of the above manifestations of thrombosis of small arteries completely disappear when treated with low doses of aspirin.
- ET is also treated with biological preparations - interferons.
- If expressed thrombocytosis is fraught with complications that are life threatening to the patient, resort to the procedure of thrombopheesis, which relieves the blood of a sick person from excessive platelet count. Manipulation is carried out with the help of a special device - a separator of blood cells. After thrombosis, the clinical picture of the complications of both the hemorrhagic and thrombotic plan is significantly improved.
Disability
The patient with ET, if there are certain criteria prescribed in the relevant regulations, can be awarded a disability.
The disability group( I, II or III) with essential thrombocythemia is determined by the degree of severity of the disease. Most often it is working.
With disability, a disability can be removed. This decision is made by the medical and labor expert commission( VTEK).
Lifespan
The lifespan of patients with essential thrombocythemia is practically unchanged.
The degeneration of ET into acute leukemia( this occurs in less than two percent of cases) is usually associated with chemotherapy sessions using cytostatics.