Myeloproliferative neoplasia is a group of different chronic diseases of the bone marrow and blood. Myeloproliferative neoplasia is malignant and relatively rare. In myeloproliferative neoplasia, the marrow of the bone produces an excess of blood cells. A cure for myeloproliferative neoplasia currently consists exclusively in the transplantation of stem cells.
What is Myeloproliferative Neoplasia?
Myeloproliferative neoplasia is also known as a chronic myeloproliferative disease and is often referred to by doctors as CMPE for short. In the case of myeloproliferative neoplasia, those cells in the bone marrow that play an essential role in the formation of new blood cells are primarily affected. See sciencedict for Introduction to Histiocytic Necrotizing Lymphadenitis.
While different forms of myeloproliferative neoplasia exist, all forms of the disease have in common the excessive production of various blood components. These include the red and white blood cells as well as the thrombocytes. The disturbed blood formation refers either to a single type of blood substances or affects several.
The symptoms that result from the excess number of certain blood cells are particularly risky for the patient with myeloproliferative neoplasia. Possible complications include occlusion of vessels, blood clots and an increased tendency to bleed.
Particularly common types of myeloproliferative neoplasia are polycythemia vera, essential thrombocythemia, chronic myeloid leukemia and primary myelofibrosis. In the majority of cases, certain genes are present in the affected individuals that promote the development of myeloproliferative neoplasia.
Causes
In principle, myeloproliferative neoplasia is a cancer. The causes are usually found in changes in the genes that lead to the malignant abnormalities in blood formation. These genetic mutations affect the cells in the bone marrow that produce blood cells.
These changes occur either by chance or due to certain external factors, such as lifestyle risk factors, use of specific medications, or similar reasons. Gene mutations in the so-called Janus kinase 2 are present in numerous people suffering from myeloproliferative neoplasia.
These are proteins that control the division of cells. As a result of the disorder, the affected cells are no longer able to stop cell division. As a result, they keep duplicating themselves. In addition, a number of other genetic mutations are responsible for the development of myeloproliferative neoplasia.
Basically, myeloproliferative neoplasia occurs only rarely. The incidence of myeloproliferative neoplasia is estimated at one to two cases per 100,000 people. While myeloproliferative neoplasia occurs in principle in people of all age groups, the disease develops particularly frequently in old age. Male patients suffer from myeloproliferative neoplasia more often than females.
Symptoms, Ailments & Signs
The symptoms of myeloproliferative neoplasia develop gradually over a long period of time and are therefore often hardly noticed by the patient at first. Myeloproliferative neoplasia is therefore often discovered by chance during routine blood tests. All of the symptoms of myeloproliferative neoplasia are caused by excess blood cells and platelets.
People are often exhausted and tired, suffer from headaches, dizzy spells and impaired circulation in their feet and hands. Sometimes vision is impaired by myeloproliferative neoplasia. The increased tendency to bleed manifests itself, for example, in unusual bruising, petechiae and prolonged bleeding from minor injuries.
In female patients, the duration of menstrual bleeding may be longer. In an advanced stage of myeloproliferative neoplasia, there is a feeling of pressure on the left side of the abdomen as the spleen enlarges. Many people also suffer from loss of appetite and weight loss. Ringing in the ears and tinnitus as well as night sweats and cramps in the calves are also possible.
Diagnosis & course of disease
Myeloproliferative neoplasia is often diagnosed incidentally when the blood is analyzed in the laboratory as part of check-ups. Significantly increased blood cell concentrations indicate myeloproliferative neoplasia. Sometimes certain proportions of blood substances are also reduced.
A subsequent examination of the abdomen using ultrasound shows the enlargement of the spleen. The patient is referred to a hematologist who will confirm the diagnosis of myeloproliferative neoplasia and identify the exact type of disease. Genetic analyzes allow the search for the so-called JAK2 gene, which largely secures the diagnosis of myeloproliferative neoplasia. In addition, the doctor examines the patient’s bone marrow with the help of the puncture procedure.
Complications
In most cases, this disease is recognized and diagnosed late. For this reason, early treatment is usually not possible. Those affected suffer from permanent fatigue and also from exhaustion. Likewise, tiredness cannot be compensated for by sleep.
It is also not uncommon for severe dizziness and headaches to occur. The patient’s quality of life is significantly reduced by this disease. The extremities of those affected are no longer properly supplied with blood, so that they usually appear cold. The sense of sight is also negatively affected by the disease, so that patients can suffer from blurred vision or double vision.
Even minor injuries can lead to heavy bleeding, which in most cases does not stop on its own. The disease also leads to severe weight loss and loss of appetite. At night, those affected often suffer from sweating or panic attacks.
Ringing in the ears can also occur and continue to negatively affect the patient’s quality of life. The treatment of the disease is carried out with the help of drugs. There are no further complications. However, a complete treatment of this disease is unfortunately not possible.
When should you go to the doctor?
The myeloproliferative neoplasia can cause very different symptoms, which, however, must be clarified by a doctor in any case. The first warning signs such as tiredness, exhaustion or circulatory disorders in the hands and feet must be examined and treated by a doctor to prevent further complications later on. The same applies to dizziness, headaches and visual disturbances as well as an increased tendency to bleed, which manifests itself in small, punctiform bleeding. If there is also a feeling of pressure in the left upper abdomen, the disease may already be far advanced. At that point at the latest, a doctor must be consulted who can diagnose or rule out the condition.
Individuals who are chronically ill or have an immune system disorder are particularly susceptible to the development of myeloproliferative neoplasia. People who have recovered from bone marrow diseases also belong to the risk groups and should inform the responsible doctor as soon as possible. Treatment is provided by internists and specialists in bone marrow diseases. If weight loss occurs as a result of loss of appetite, a nutritionist must be consulted.
Treatment & Therapy
In principle, myeloproliferative neoplasia has not yet been cured; instead, the disease is treated on the basis of its symptoms. For example, patients receive platelet aggregation inhibitors that counteract blood clots. This reduces the risk of vascular occlusion and thrombosis. The drug acetylsalicylic acid is often used.
Bloodletting is also particularly effective for the treatment of myeloproliferative neoplasia. By taking a certain amount of blood from the body, the symptoms usually improve in the short term. Up to half a liter of blood is taken per bloodletting.
Over the long term, the lack of red blood cells creates an iron deficiency, so fewer blood cells are made. In addition to other drug therapy approaches, there is the possibility of a stem cell transplant.
Outlook & Forecast
According to current scientific knowledge, the prognosis is poor. Myeloproliferative neoplasia is considered incurable. Doctors can only alleviate the symptoms. It remains to be seen to what extent research will explore new therapeutic approaches in the future. The problem is that the symptoms increase over time. As a result, many patients experience a loss in their quality of life. Depending on the severity, myeloproliferative neoplasia can also contribute to a reduction in life expectancy.
Myeloproliferative neoplasia mainly affects adults around 60 years of age. Younger people rarely get sick. Statistically, one to two new patients per 100,000 inhabitants are added every year. Diagnosing myeloproliferative neoplasia in its early stages is difficult because the early signs are nonspecific and may be associated with other forms of the disease. This fact worsens the initial situation and explains the unfavorable prognosis.
Physicians assess the prospects for old people, in the presence of thrombosis or leukocytosis, as particularly critical. Standardized therapy concepts do not yet exist. Patients sometimes have to experiment until prescribed remedies show their effect. Risks and side effects cannot be ruled out in the context of therapy.
Prevention
Myeloproliferative neoplasia cannot currently be specifically prevented, since most of the factors causing the malignant disease are largely outside the patient’s sphere of influence.
You can do that yourself
Coping with everyday life after the diagnosis is primarily characterized by self-observation. In order to maintain the highest possible quality of life, it is necessary for patients to regain a good body feeling and thus increase their well-being.
Coping with the disease also plays a central role in the lives of patients. Actively dealing with myeloproliferative neoplasia, informing yourself and not giving up has a positive effect on quality of life in most cases. The exchange with other affected people via forums or in self-help groups can be invaluable. An exchange between the patients leads to more understanding and the feeling of not being alone. In addition to self-help groups, it makes sense to keep a diary or log. If those affected write down what they experience, how they feel and what goes through their heads, they can later better classify these thoughts and sensitivities.
A log also helps with self-observation. Changes after certain activities, feeling unwell after certain meals or regaining abilities make it easier to regain body awareness and also contribute to a more positive attitude. It is important for the patient to focus on the small successes. It may also be helpful to discuss these with the doctor.
