Myelodysplastic syndrome, or MDS for short, describes various diseases of the blood or hematopoietic system that prevent healthy blood cells from fully expressing and functioning due to genetic alteration, and in this way attack the organism and weaken it. The likelihood of developing myelodysplastic syndrome increases with age and increases sharply after the age of 60.
What is myelodysplastic syndrome?
Contrary to a common misconception, myelodysplastic syndrome is not a blood cancer (leukemia). However, because acute myeloid leukemia (AML) can occur as a sequelae in some cases, it received synonyms such as creeping leukemia or preleukemia. A parallel to leukemia is that in myelodysplastic syndrome, the bone marrow, as the center of blood formation, is also directly affected and its essential function for the organism is impaired. Thus, in this disease, the bone marrow is no longer able to produce sufficient white blood cells (leukocytes), red blood cells (erythrocytes), and platelets (thrombocytes) to ensure the transport of oxygen, the maintenance of the immune system, and reasonable blood clotting.
Causes
In nine out of ten cases of the disease, there is no direct cause for the development of myelodysplastic syndrome. The remainder are due either to the consequences of radiation or chemotherapy, such as that used in cancer patients, as so-called secondary myelodysplastic syndromes, or to exposure to harmful and usually toxic foreign substances such as benzene, which is found in gasoline, for example. In addition, it is suspected that frequently consumed goods such as cigarette smoke, hair dyes, pesticides or alcohol may also contribute to the development of myelodysplastic syndrome. However, this hypothesis has not yet been sustainably proven. On the other hand, a hereditary predisposition to myelodysplastic syndrome, as well as transmission of the disease from person to person, have been completely ruled out.
Symptoms, complaints, and signs
In about half of those affected, there are no symptoms at all and the disease is discovered only by chance. In patients with symptoms, the signs triggered by the anemia are particularly prominent. If the formation of red blood cells is disturbed, this leads to a lack of oxygen. Those affected feel tired and listless, and their performance and concentration levels drop significantly. If they have to exert themselves, they are quickly out of breath. They experience shortness of breath and sometimes palpitations (tachycardia). Dizziness may also occur. The skin color is strikingly pale. However, the formation of white blood cells may also be impaired. This is manifested in weakened defenses and recurrent infections caused by this, which may be accompanied by fever. In some cases, the disease reduces the number of platelets. Since these are responsible for blood clotting, injuries bleed more and last longer than normal. Bleeding from the gums is common. Petechiae can also form. These are small pinpoint hemorrhages in the skin. Another symptom is spleen enlargement. Because the spleen has to work harder due to the missing platelets, it increases in volume. The liver may also become enlarged, which is noticeable in a feeling of pressure on the upper right side of the abdomen.
Diagnosis and course
Initial signs of the onset of myelodysplastic syndrome closely resemble those of anemia (anemia), in which there are also insufficient red blood cells in the blood to distribute oxygen sufficiently quickly throughout the body, which can result in symptoms such as shortness of breath, pallor, fatigue, dizziness, headache, an increased heart rate, and ringing in the ears. Due to the lack of white blood cells, there may also be an increased incidence of infections that cannot be controlled even by specific treatment with antibiotics. In addition, as a result of the lack of sufficient platelets, bleeding that is difficult to stop and unusually severe, for example in the case of small cuts or surgical procedures, can often be observed. Frequent bruising or blood in the urine and stool can also be the first signs of myelodysplastic syndrome.If there is a suspicion, detailed blood tests are usually carried out and blood values are analyzed for deviations and abnormalities. In addition, a sample of bone marrow is taken from the hip and examined for chromosomal changes, which occur in about 60 percent of cases. Myelodysplastic syndrome does not affect the body quite as quickly and devastatingly as leukemia, but therapy should still be started quickly after diagnosis, otherwise life-threatening circumstances can result from infections, such as those of the lungs or intestines, or from acute leukemia developing from myelodysplastic syndrome.
Complications
First and foremost, severe anemia occurs as a result of this syndrome. This generally has a very negative effect on the patient’s health condition, and in the process can also significantly reduce life expectancy. Due to the anemia, the affected persons appear very tired and weary and no longer take an active part in life. Weakness also occurs and the patient’s ability to cope with stress also decreases. The affected persons can no longer concentrate and appear very pale. Furthermore, the syndrome leads to a racing heart and dizziness. Due to the reduced blood circulation, those affected also suffer from ringing in the ears and headaches. The quality of life is considerably reduced and the patient often becomes irritable. Even small wounds or cuts cause severe bleeding, and the blood may also appear in the urine. As a rule, a complete cure of the syndrome is only possible through the transplantation of stem cells. Furthermore, the affected persons are dependent on regular transfusions in order not to die from the symptoms. In severe cases, chemotherapy is also necessary, but this can lead to various side effects. Without treatment of the syndrome, there is a significant reduction in the life expectancy of the affected person.
When should you see a doctor?
Fatigue, rapid fatigue and an increased need for sleep are indications from the body of an existing irregularity. If the symptoms persist over a longer period of time or become more intense, a visit to the doctor is needed. Disturbances of concentration, attention or memory should be examined and clarified. If the level of performance drops and, as a result, everyday demands can no longer be met, a doctor should be consulted. If there is a lack of the usual resilience, a pallor of the skin or an inner weakness, a visit to the doctor is necessary. If there are disturbances of the heart rhythm, palpitations, dizziness or unsteadiness of gait, a visit to the doctor is recommended. An elevated body temperature, general malaise or feeling of illness should be presented to a physician. These are warning signals from the body that require action. Spontaneous bleeding of the gums, changes in the appearance of the skin, and bruising that cannot be traced are signs of impaired health. If the affected person notices swelling on the upper body or if general functional disorders develop, he or she needs medical help. Sensory disturbances on the upper body, hypersensitivity to touch or pressure effects indicate an irregularity of the organism. In the case of these complaints, a doctor should be consulted as soon as possible so that a treatment plan can be drawn up to alleviate the symptoms. In addition, severe and acute illnesses must be ruled out.
Treatment and therapy
Myelodysplastic syndrome can ultimately be completely cured only by successful stem cell transplantation. All other treatment methods are only palliative, that is, alleviating the symptoms of the disease. The lack of red blood cells, for example, can be combated by regular blood transfusions, the lack of platelets by platelet concentrates. To prevent infections, vaccinations against influenza and pneumococcus are given, as well as precautionary treatment with antibiotics. Intensive personal hygiene and avoidance of contact with possible carriers of the disease are also recommended. If the disease is already far advanced, chemotherapy is often administered to eliminate the rapidly growing cells in the bone marrow and blood, thus temporarily restoring the blood count to a normal state.These methods vary greatly from patient to patient and must always be discussed and planned individually with the treating physician. For this reason, the MDS Registry Düsseldorf has existed since 2003, with the aim of being able to classify the course of the disease more individually and more precisely and, on this basis, to develop tailored therapies to combat myelodysplastic syndrome.
Outlook and prognosis
The prognosis for myelodysplastic syndrome varies from patient to patient. It depends on the type and extent of the disease. During MDS, an increasing amount of immature blood cells are formed. Therefore, there is a risk that the syndrome will change into another form, the prognosis of which is even less favorable. This may be chronic myelomonocytic leukemia (CMML) or acute myeloid leukemia (AML). Overall, the prognosis for MDS is considered rather unfavorable. Thus, factors such as complex chromosomal alterations or a pronounced blast content within the blood as well as a high decay value have a negative impact. The same is also true in the case of previous diseases, poor general health or older age. There are differences in the course and life expectancy depending on the respective risk group. For example, the average life expectancy for high-risk MDS is five months. However, if stem cell therapy can be performed, there is even a prospect of cure. Thus, this procedure is considered the only chance of cure for MDS. If the disease risk is lower, the patient has a life expectancy of up to 68 months. Up to 70 percent of all MDS patients die from bleeding, infections or the consequences of acute myeloid leukemia. To make the prognosis more favorable, it is important to strengthen the immune system. For this purpose, the sufferer needs sufficient rest, a healthy diet, and sports activities.
Prevention
Due to great efforts in recent decades, treatment of myelodysplastic syndrome is becoming more effective and efficient, and many affected individuals now have a greatly increased chance of cure or survival.
Follow-up
In most cases, only very few or limited measures of direct aftercare are available to those affected by this syndrome. First and foremost, a physician should be contacted early so that no further complications or complaints can occur. An independent cure cannot occur. An early diagnosis always has a very positive effect on the further course of the disease, so that the affected person should ideally see a doctor at the first symptoms and signs of the disease. Those affected by this disease should protect themselves particularly well against various infections and inflammations so that complications do not arise. At the same time, the support and care of one’s own family and relatives is very important and has a positive effect on the further course of this disease. Here, psychological support can be helpful to prevent depression and other psychological upsets. In many cases, however, this disease reduces the life expectancy of the affected person.
What you can do yourself
For those affected, it is first and foremost important to clarify what type of disease they are suffering from and what treatment options are available. If the treatment is carried out by means of chemotherapy, this represents an enormous burden for the body. During this time, the organism has an increased need for nutrients, which can be partially covered by a change in diet. If this is not sufficient, a supporting therapy with micronutrients must be carried out in cooperation with the physician, which is adapted to the individual needs. If the possibility of a stem cell transplant is on the table, the affected person can initiate donation events together with friends, family and colleagues, at which the population is specifically called upon to register in the bone marrow donor registry. Even if there is no suitable donor for you among the newly registered, it can mean the longed-for donation for other affected persons. Regular blood transfusions are a common therapy to keep the side effects of the disease as low as possible. However, this inevitably leads to an excess of iron in the organism. To avoid organ and tissue damage, this must be removed from the body with medication.The tablets required for this purpose must be taken very conscientiously, even if side effects occur, since an excess of iron does not cause symptoms until permanent damage to the organism has already occurred.
