Myeloproliferative Neoplasia: Causes, Symptoms & Treatment

Myeloproliferative neoplasia is a group of various chronic diseases of the bone marrow and blood. Myeloproliferative neoplasia is malignant in nature and is relatively rare. In myeloproliferative neoplasia, the marrow of the bone produces an excess number of blood cells. Currently, a cure for myeloproliferative neoplasia is exclusively through stem cell transplantation.

What is myeloproliferative neoplasia?

Myeloproliferative neoplasia is also known as chronic myeloproliferative disease and is often referred to by its short form CMPE among physicians. Myeloproliferative neoplasia primarily affects those cells in the bone marrow that play an essential role in the formation of new blood cells. While various forms of myeloproliferative neoplasia exist, common to all manifestations of the disease is the excessive production of various blood components. These include red blood cells, white blood cells and platelets. The impaired blood formation relates either to a single type of blood substance or affects several. The main risk for patients with myeloproliferative neoplasia are the symptoms that result from the excess of certain blood cells. Possible complications include occlusion of blood 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 that promote the development of myeloproliferative neoplasia are present in affected individuals.

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 of the bone marrow that produce the blood cells. These changes occur either by chance or due to certain external factors, such as lifestyle risk factors, the use of specific medications, or similar reasons. In many individuals suffering from myeloproliferative neoplasia, gene mutations are present in the so-called Janus kinase 2. This is a protein that controls 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 continue to duplicate. In addition, a number of other genetic mutations are responsible for the development of myeloproliferative neoplasia. Basically, myeloproliferative neoplasia occurs rarely. The incidence of myeloproliferative neoplasia is estimated to be one to two cases per 100,000 people. While myeloproliferative neoplasia occurs in principle in individuals of all ages, the disease develops particularly frequently in advanced age. Male patients suffer from myeloproliferative neoplasia more often than women.

Symptoms, complaints, and signs

The symptoms of myeloproliferative neoplasia develop insidiously over a long period of time and are therefore often hardly noticed by patients at first. Myeloproliferative neoplasia is therefore often discovered by chance during routine blood tests. All symptoms of myeloproliferative neoplasia are caused by the excess of blood cells and platelets. Thus, individuals are often fatigued and tired, suffer from headaches, dizzy spells, and impaired blood flow to the feet and hands. Sometimes the sense of sight is impaired due to 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 menstruation may be prolonged. In an advanced stage of myeloproliferative neoplasia, there is a feeling of pressure on the left side of the abdomen as the spleen enlarges. Numerous individuals also suffer from loss of appetiteand weight loss. Ringing in the ears and tinnitus as well as night sweats and cramps in the calves are also possible.

Diagnosis and course of the disease

Often, myeloproliferative neoplasia is diagnosed incidentally when blood is analyzed by laboratory techniques during follow-up examinations. Significantly elevated concentrations of blood cells indicate myeloproliferative neoplasia. Sometimes certain proportions of blood substances are also reduced. A subsequent examination of the abdomen by ultrasound shows enlargement of the spleen. The patient is referred to a hematologist, who substantiates the diagnosis of myeloproliferative neoplasia and determines the exact type of the disease. Genetic analysis allows searching for the so-called JAK2 gene that largely secures the diagnosis of myeloproliferative neoplasia. In addition, the physician examines the patient’s bone marrow using the puncture procedure.

Complications

In most cases, this disease is detected and diagnosed late. For this reason, early treatment is usually not possible in this case. The affected persons suffer thereby from a permanent tiredness and also from a fatigue. The fatigue cannot be compensated by sleep. It is also not uncommon for patients to suffer from severe dizziness and headaches. The quality of life of the patient is clearly limited by this disease. The extremities of the affected persons are no longer supplied with blood properly, so that they usually appear cold. The sense of sight is also negatively affected by the disease, so that patients can suffer from veil vision or double vision. Even minor injuries cause severe bleeding, which in most cases does not stop on its own. Furthermore, the disease also leads to a severe loss of weight and loss of appetite. At night, those affected often suffer from sweating or panic attacks. Ear noises may 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 medication. No further complications occur in the process. However, complete treatment of this disease is unfortunately not possible.

When should one go to the doctor?

Myeloproliferative neoplasia can cause very different symptoms, which, however, should be clarified by a doctor in any case. Even the first warning signs, such as fatigue, exhaustion or circulatory problems 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 as small, punctiform hemorrhages. If there is also a feeling of pressure in the left upper abdomen, the disease may already be far advanced. At the latest then, a doctor must be consulted who can diagnose or rule out the condition. People who are chronically ill or suffer from a disease of the immune system are particularly susceptible to the development of myeloproliferative neoplasia. People with overcome bone marrow diseases also belong to the risk groups and should quickly inform the responsible physician. Treatment is provided by internists and specialists in bone marrow diseases. If there is weight loss as a result of loss of appetite, a nutritionist must be consulted concomitantly.

Treatment and therapy

Basically, myeloproliferative neoplasia cannot be cured so far; instead, the disease is treated based on its symptoms. For example, patients receive platelet aggregation inhibitors, which 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 treating myeloproliferative neoplasia. By withdrawing 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 phlebotomy. In the long term, the lack of red blood cells causes an iron deficit, so that fewer blood cells are produced. In addition to other drug therapy approaches, there is the possibility of stem cell transplantation.

Outlook and prognosis

According to current scientific knowledge, the prognosis is poor. Myeloproliferative neoplasia is not considered curable. Physicians can only relieve symptoms. It remains to be seen to what extent research will explore new therapeutic avenues in the future.The fact that the symptoms increase over time proves to be problematic. Many patients suffer losses in their quality of life as a result. Depending on its severity, myeloproliferative neoplasia can also contribute to a shortened lifespan. Myeloproliferative neoplasia mainly affects adults around the age of 60. Only rarely do younger people also develop the disease. Statistically, there are one to two new patients per 100,000 population each year. Diagnosis of myeloproliferative neoplasia at an early stage is difficult because the first signs are nonspecific and may also be associated with other forms of the disease. This fact worsens the initial situation and accounts for the unfavorable prognosis. Physicians judge the prospects for old persons, in the presence of thrombosis or leukocytosis as particularly critical. Standardized therapy concepts do not yet exist. Patients sometimes have to experiment until prescribed agents show their effect. Risks and side effects cannot be excluded in the course of therapy.

Prevention

Myeloproliferative neoplasia cannot currently be specifically prevented because most of the factors that cause the malignant disease are largely beyond the patient’s control.

What you can do yourself

Coping with everyday life after diagnosis is primarily characterized by introspection. In order to maintain as high a quality of life as possible, it is necessary for patients to regain a good body image and thus increase their sense of well-being. Coping with the disease also plays a central role in patients’ lives. To actively deal with myeloproliferative neoplasia, to inform oneself and not to give up has a positive effect on the quality of life in most cases. The exchange with other affected persons via forums or in self-help groups can be invaluable. An exchange between patients leads to more understanding and the feeling of not being alone. Complementary to self-help groups, it is useful to keep a diary or log. If patients write down what they experience, how they feel, and what goes through their minds, they can better categorize these thoughts and feelings later. A log also helps with self-observation. Changes after certain activities, discomfort after certain meals or regaining abilities make it easier to regain body awareness and also contribute to a more positive basic attitude. It is important for patients to focus on small successes. It may also be helpful to discuss these with the physician.