Myeloproliferative diseases are malignant diseases of the hematopoietic system. The disease vector is the monoclonal proliferation of one or more hematopoietic cell lines. The therapy depends on the respective disease in the individual case and, in addition to blood transfusions, can include blood washing, medication and bone marrow transplants.
What are Myeloproliferative Disorders?
One of the most important blood-forming organs is the medulla ossium, i.e. the bone marrow. Together with the liver and spleen, it forms the human hematopoietic system. Various diseases can affect the blood-forming system. For example, the collective term of malignant hematological diseases corresponds to a heterogeneous group of diseases with a malignant nature that affects the blood-forming system. See sciencedict for Introduction to Heberden Osteoarthritis.
The malignant hematological diseases include the subgroup of myeloproliferative diseases. This group of diseases is characterized by a monoclonal proliferation of stem cells in the bone marrow. In the literature, the corresponding diseases are sometimes also referred to as myeloproliferative neoplasms.
The US 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 is based on a malignant degeneration of blood-forming cells of the myeloid series, has prevailed. The group includes more than ten diseases, including polycythemia vera.
Causes
The causes of a myeloproliferative disease have not yet been finally clarified. According to speculation, risk factors such as ionizing radiation or chemical noxae cause diseases of the blood-forming system. In this context, scientists primarily count benzene and alkylating agents as chemical noxae.
Although it has been proven that all of the noxae mentioned could cause corresponding phenomena, in most cases of myeloproliferative diseases there is no immediate connection with the noxae. Researchers have now at least agreed on the suspicion that previously unknown noxae cause mutations in the genome.
These mutations should correspond to chromosomal aberrations, i.e. anomalies in the genetically chromosomal genetic material. The abnormalities are currently believed by researchers to be the primary cause of the disease. The hypothesis is supported by previously documented case reports of myeloproliferative diseases. In many cases of polycythemia vera, there is an accompanying mutation in the Janus kinase 2 gene JAK2.
Symptoms, Ailments and Signs
The symptoms of myeloproliferative diseases can vary in severity and depend on the exact disease in the individual case. However, most diseases in the group have some ailments in common. In addition to leukocytosis, for example, erythrocytosis or thrombocytosis can occur.
This means there is an oversupply of certain blood cells. Especially in the early stages of myeloproliferative diseases, 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, with this symptom primarily characterizing osteomyelosclerosis.
Apart from fibrosis, this clinical picture is also associated with extramedullary blood formation. In extreme cases, a transition to a life-threatening blast attack occurs over the course of the disease, primarily in the case of diseases such as CML. Depending on the disease in question, many other symptoms can occur in individual cases. The presence of all the symptoms mentioned here is not absolutely necessary for the diagnosis of a myeloproliferative disease.
Diagnosis and course of the disease
The diagnosis of a myeloproliferative disease is often difficult, especially in the early stages. A clear assignment of the symptoms is usually not possible in the initial stages. In some cases, individual diseases from the disease group also overlap with one another, making assignment even more difficult.
For example, polycythemia vera often occurs with or progresses into osteomyelosclerosis. The course of the disease is chronic and is subject to a certain progression. This means that the severity of the disease increases over time and the prognosis is therefore rather unfavorable.
When should you go to the doctor?
Disorders of blood flow or irregularities in heart rhythm must be presented to a doctor. There is cause for concern if there is restricted mobility or swelling in the upper body. General functional disorders, inconsistencies in digestion or an inner restlessness are signs of an existing illness. A doctor’s visit is necessary as soon as the symptoms persist for a long time or increase in intensity. If the person concerned complains of feeling ill, feeling unwell or having trouble sleeping, they should consult a doctor. Sudden outbreaks of sweating or heavy night sweats 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 an existing health irregularity. Headaches, concentration disorders 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 preparations containing base and a decrease in body weight must be examined by a doctor. If sporting activities or everyday processes can no longer be carried out, a doctor should be consulted. Persistent inner weakness, a general feeling of being unwell or mental problems must be discussed with a doctor. Often there is a serious illness behind the symptoms, which requires immediate action.
Treatment & Therapy
The therapy of a myeloproliferative disease is symptomatic and depends on the disease in the individual case. A causal treatment is currently not available for the patients. This means that the cause of the diseases cannot be resolved. So far, science has not even agreed on the cause.
Until the cause of the disease has not been clearly clarified, no causal therapy 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 should be inhibited.
For this purpose, those affected are administered the tyrosine kinase inhibitor imatinib, for example. Patients with chronic myeloid leukemia also often receive drug therapy with hydroxycarbamide to normalize the leukocyte count. Various measures are used to treat PV.
Bloodletting and apheresis reduce erythrocytes and other cellular blood components. Simultaneously, platelet aggregation is inhibited to prevent thrombosis. Oral platelet aggregation inhibitors such as acetylsalicylic acid are the drug of choice. Chemotherapy is only indicated if the high number of leukocytes or platelets causes thrombosis or embolism.
If hypereosinophilic syndrome is present, imatinib is the treatment of choice. Oral anticoagulation is recommended to prevent embolism. Patients with OMF are observed by hematologists and usually treated using three approaches. In addition to bone marrow transplants, drugs such as androgens, hydroxyurea, erythropoietin or ruxolitinib are available in this context. The third component of therapy is regular blood transfusions.
Outlook & Forecast
Myeloproliferative disease has an unfavorable prognosis. It is classified as a malignant disease that is difficult to treat. Without comprehensive medical care, the further prospects deteriorate to a considerable extent. The general life expectancy is reduced for those affected. The earlier a diagnosis is made, the sooner it is possible to start therapy. This increases the probability of a positive development in the further course of the disease.
Nevertheless, the challenge in treatment is to cope with the fundamentally progressive development of the disease. 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 represents a strong mental and emotional burden for those affected. In many cases, the overall circumstances lead to the development of psychological complications.
The patient’s body is often so weak that the therapy approaches used do not bring about the desired success. Although numerous complaints are alleviated, it is still difficult to predict how the personal development of the person concerned will develop. In addition to drug therapy, regular blood transfusions are necessary to improve general well-being. Overall, the susceptibility to infections increases and with it the risk of further health problems. For some patients, bone marrow transplantation represents the last chance of improvement in overall development.
Prevention
So far, myeloproliferative diseases cannot be prevented in a promising way, since the causes of the development of the disease have not yet been finally clarified.
Aftercare
Myeloproliferative diseases such as polycythemia vera require extensive follow-up care. Patients with this diagnosis must undergo periodic bloodletting. The number of blood cells is reduced and the blood values checked. If the blood values of the person concerned are well adjusted, he has mastered the first step.
Then you have to think long-term. It is important to maintain the success of the therapy. In addition, aftercare includes making life with the disease as positive as possible. In both cases, patients should be in regular contact with their doctor.
In the case of myeloproliferative diseases, regular follow-up care and follow-up checks are extremely important. Examination appointments serve to check the success of the therapy. On the basis of physical well-being, the doctor optimizes the therapy and adapts it to individual needs.
If patients feel unwell between visits, they should contact their healthcare provider immediately. It is not advisable to wait until the next appointment. Those affected do not have to accept complaints. The doctor can already remedy the situation with simple means.
In addition, he examines the respective complaints and initiates additional investigations accordingly. There are also other aspects to consider that go beyond physical limitations. A visit to a psychologist may be beneficial if the illness also has an impact on the patient’s psyche.
You can do that yourself
Since myeloproliferative disease is a genetic disease, self-help options are limited. Treatment can be symptomatic. Nevertheless, in addition to medical treatment, individual measures to improve the quality of life can and should be found.
The focus is on slowing down the negative course of the disease and maintaining the independence of the patients. Various methods can be used to achieve this, from which the most suitable approach for the ailing person is chosen. Alternative therapy offers such as meditation, yoga or other physical exercises can support pain therapy and reduce illness-related stress . Doctors, psychotherapists or occupational therapistscan give instructions for exercises that can be carried out independently at home. Continuous repetition is important for the success of such methods. This is the only way to maintain performance.
Since the course of the disease is very different, it can help to try out different such measures. In general, it is advisable to keep an eye on the psychosocial environment of the patient. An intact social network provides support and can help to deal with the effects of a myeloproliferative disorder.
