Myeloproliferative disorders are malignant diseases of the hematopoietic system. The governing system of the diseases is monoclonal proliferation of one or more hematopoietic cell series. Therapy depends on the disease in each individual case and may include blood transfusions, blood washing, drug administration, and bone marrow transplantation.
What are myeloproliferative disorders?
One of the most important blood-forming organs is the medulla ossium, or bone marrow. Together with the liver and spleen, it forms the human hematopoietic system. Different diseases can affect the hematopoietic system. For example, the collective term malignant hematologic diseases corresponds to a heterogeneous group of diseases of a malignant nature that affect the hematopoietic system. Malignant hematologic diseases include the subgroup of myeloproliferative diseases. This group of diseases is characterized by monoclonal proliferation of stem cells in the bone marrow. In the literature, these diseases are sometimes referred to as myeloproliferative neoplasms. The U.S. hematologist Dameshek initially proposed the term myeloproliferative syndromes for malignant diseases of the blood system and included diseases such as chronic myeloid leukemia. In the meantime, the disease group of myeloproliferative diseases, which are based on a malignant degeneration of blood-forming cells of the myeloid series, has become established. The group includes more than ten diseases, such as polycythaemia vera, among others.
Causes
The causes of myeloproliferative disease have not yet been conclusively determined. Speculation suggests that risk factors such as ionizing radiation or chemical noxious agents cause the diseases of the hematopoietic system. In this context, scientists consider benzene and alkylanzien to be the most important chemical noxae. Although the mentioned noxae have all been proven to cause corresponding phenomena, a connection with the noxae in most cases of myeloproliferative diseases cannot be directly identified. Researchers have meanwhile at least agreed on the suspicion that hitherto unknown noxae cause mutations in the genome. These mutations are thought to correspond to chromosomal aberrations, i.e. abnormalities in the genetic chromosomal genetic material. The abnormalities are believed by researchers to be the primary cause of disease at this time. The hypothesis is supported by case reports of myeloproliferative disorders documented to date. For example, in many cases of polycythaemia vera, a mutation in the Janus kinase 2 gene JAK2 is concomitantly present.
Symptoms, complaints, and signs
Symptoms of myeloproliferative disorders can vary in severity and depend on the exact disease in each individual case. However, most diseases in the group have some complaints in common. In addition to leukocytosis, erythrocytosis or thrombocytosis may occur, for example. This means that there is an oversupply of certain blood cells. Especially in early stages of myeloproliferative disorders, the three phenomena mentioned can occur simultaneously. In addition, patients often suffer from basophilia. An equally common symptom is splenomegaly. In many cases, fibrosis of the bone marrow also occurs, and this symptom mainly characterizes osteomyelosclerosis. Apart from fibrosis, this clinical picture is also accompanied by extramedullary hematopoiesis. In extreme cases, a transition to a life-threatening blast relapse occurs in the course of the disease, primarily in diseases such as CML. Depending on the disease in question, many other symptoms may occur in individual cases. The presence of all symptoms mentioned here is not mandatory for the diagnosis of myeloproliferative disease.
Diagnosis and disease progression
Diagnosis of myeloproliferative disease is often difficult, especially in the early stages. A clear assignment of symptoms is usually not possible in the early stages. In some cases, individual diseases from the disease group also overlap with each other, further complicating the assignment. Polycythaemia vera, for example, often occurs with osteomyelosclerosis or merges with it. The course of the disease is chronic and subject to a certain progression.This means that the severity of the disease increases with time and there is a correspondingly rather unfavorable prognosis.
When should you go to the doctor?
Disturbances in blood flow or irregularities in heart rhythm must be presented to a physician. If there are limitations of movement or swelling of the upper body, there is cause for concern. General dysfunctions, inconsistencies in digestion or an inner restlessness are signs of a present illness. A visit to the doctor is necessary as soon as the complaints persist unabated over a longer period of time or increase in intensity. If the affected person complains of feeling ill, malaise or sleep disturbances, he should consult a doctor. Sudden outbreaks of sweating or heavy night sweat production despite optimal sleeping conditions should be presented to a doctor. An internal cold or heat development as well as an increased body temperature are indications of the organism for a present health irregularity. Headaches, disturbances in concentration or a decrease in performance must be clarified by a doctor. Changes in the muscular system, an unusual reaction of the body in contact with base-containing preparations as well as a decrease in body weight must be examined by a doctor. If sporting activities or everyday procedures can no longer be performed, a doctor should be consulted. Persistent internal weakness, general malaise or psychological problems must be discussed with a physician. Often a serious illness is hidden behind the complaints, for which immediate action is required. In order for a diagnosis to be made, a visit to the doctor should take place.
Treatment and therapy
Therapy for myeloproliferative disease is symptomatic and depends on the disease in each individual case. Causal treatment is not currently available for patients. This means that the cause of the disease cannot be resolved. In fact, science has not even agreed on the cause yet. Until the origin of the disease is clearly understood, no causal treatment options will be available. In diseases such as CML, the focus of symptomatic therapy is on conservative drug treatment approaches. The tyrosine kinase activity of the patients is to be inhibited. For this purpose, the tyrosine kinase inhibitor imatinib, for example, is administered to the affected patients. Patients with chronic myeloid leukemia also often receive drug therapy with hydroxycarbamide to normalize the leukocyte count. Various measures are in use for the therapy of PV. Bloodletting and apheresis reduce erythrocytes and other cellular blood components. Synchronously, platelet aggregation inhibition is used to prevent thrombosis. Oral antiplatelet agents such as acetylsalicylic acid are the drug of choice for this purpose. Chemotherapy is indicated only if the high leukocyte or platelet count causes thrombosis or embolism. If a hypereosinophilia syndrome is present, imatinib is the therapy of choice. Oral anticoagulation is recommended to prevent embolism. Patients with OMF are followed by hematologists and are usually treated using three approaches. In addition to bone marrow transplantation, drugs such as androgens, hydroxyurea, erythropoietin, or ruxolitinib are available in this context. The third component of therapy is regular blood transfusions.
Outlook and prognosis
Myeloproliferative disease has an unfavorable prognosis. It is a malignant classified disease that is difficult to treat. Without comprehensive medical care, the further outlook deteriorates to a significant degree. The general life expectancy of the affected person is reduced. The earlier a diagnosis is made, the sooner therapy can be started. This increases the probability of a positive development in the further course of the disease. Nevertheless, the challenge in a treatment is to cope with the basically progressive development of the disease. At the same time, since the cause of the disorder has not yet been fully clarified, doctors decide on the next treatment steps based on the individual situation. The disease places a heavy psychological and emotional burden on the person affected. In many cases, the overall circumstances lead to the development of a psychological sequelae.The patient’s body is often so weakened that the therapeutic approaches used do not achieve the desired success. Although relief of numerous complaints is achieved, it is nevertheless difficult to predict how the personal development of the affected person will turn out. In addition to drug therapy, regular blood transfusions are necessary to improve the general well-being. Overall, the susceptibility to infections increases and with it the risk of further health disorders. In some patients, bone marrow transplantation represents the last prospect of overall improvement.
Prevention
Myeloproliferative disorders cannot be prevented with any promise to date, because the causes of disease development have not yet been conclusively determined.
Follow-up
Myeloproliferative disorders, such as polycythaemia vera necessitate extensive follow-up. Patients with this diagnosis must undergo periodic phlebotomies. This involves lowering the number of blood cells and monitoring blood counts. If the blood values of the affected person are well adjusted, he has mastered the first step. The next step is to take a long-term view. The success of the therapy must be maintained. In addition, aftercare includes making life with the disease as positive as possible. In both cases, patients should be in regular contact with their treating physician. In the case of myeloproliferative diseases, regular follow-up care and progress monitoring are extremely important. Examination appointments serve to check the success of the therapy. Based on physical well-being, the physician optimizes the therapy and adapts it to individual needs. If patients feel unwell between examination appointments, they should contact their physician immediately. It is not advisable to wait until the next appointment. Those affected do not have to accept discomfort under any circumstances. The physician can already remedy the situation with simple means. In addition, he will check the respective complaints and arrange for additional examinations accordingly. In addition, there are other aspects to consider that go beyond the physical limitations. Possibly, a visit to the psychologist is beneficial, if the disease also has an impact on the psyche of the patient.
What you can do yourself
Because myeloproliferative disorder is a genetic disease, self-help options are limited. Treatment can be symptomatic. Nevertheless, in addition to medical treatment, individual measures can and should be found to improve the quality of life. The focus is on slowing down a negative progression of the disease and maintaining the patient’s independence. To achieve this, various methods can be used, from which the most suitable approach for the ill person is chosen. Alternative therapies such as meditation, yoga or other physical exercises can support pain management and reduce disease-related stress. Physicians, psychotherapists or occupational therapists can provide instructions for exercises that can be performed independently at home. Continuous repetition is important for the success of such methods. This is the only way to maintain performance. Since the courses of the disease are very different, it can help to try out different such measures. In general, it is advisable to also keep the patient’s psychosocial environment in mind. An intact social network provides support and can help to cope with the effects of myeloproliferative disease.
