Brief overview
- Symptoms: Fatigue, decreased ability to perform and concentrate, shortness of breath, increased pulse, pallor, dizziness, increased susceptibility to infection, increased bleeding tendency.
- Therapy: therapy is based on the risk type of MDS: in low-risk MDS, only supportive therapy is given to relieve symptoms; in high-risk type, stem cell transplantation is given if possible; alternatively, chemotherapy is given.
- Causes: In MDS, genetic changes in the hematopoietic stem cells interfere with normal hematopoiesis, resulting in increased numbers of nonfunctional blood cells.
- Diagnosis: A suspicion is usually based on the symptoms, the diagnosis of MDS is based on typical changes in the blood count and a bone marrow aspiration.
- Prevention: Since the reasons for the genetic changes in the blood stem cells are unknown in most cases, it is usually not possible to prevent the disease. However, it is advisable to follow the applicable safety regulations when handling certain chemicals or radioactive radiation.
Myelodysplastic syndrome (MDS, myelodysplasia) comprises a group of diseases that affect the bone marrow and thus blood formation. Normally, different types of blood cells develop in the bone marrow and are responsible for different tasks in the body. These include:
- Red blood cells (erythrocytes): Oxygen transport
- White blood cells (leukocytes): Part of the immune system
- Blood platelets (thrombocytes): Blood clotting
As a result, in MDS there are too few functional blood cells in the blood. Physicians also refer to this deficiency as cytopenia. In contrast, an excessive number of immature blood cells (blasts) accumulate in the bone marrow. They are unable to complete their maturation process and produce intact red blood cells, white blood cells or platelets.
How common is MDS?
MDS occurs most frequently in people around the age of 75. Every year, about four to five out of 100,000 people develop myelodysplastic syndrome, and in people over 70 years of age, the figure is as high as 30 out of 100,000. This makes MDS one of the most common malignant blood diseases, and men are affected slightly more often than women.
What are the symptoms of MDS?
Anemia: formation or function of red blood cells impaired
Affected persons feel weak and are chronically tired. Physical performance is reduced, and shortness of breath and a rapid pulse (tachycardia) occur even with minor physical exertion. Often the skin is strikingly pale. Some people also experience poor concentration, visual disturbances, loss of appetite, gastrointestinal complaints and headaches. Beyond that, however, pain is not one of the typical symptoms of myelodysplastic syndrome.
In people with MDS, the number of white blood cells is often reduced (leukopenia). As a result, the immune system is no longer able to respond adequately to pathogens. Myelodysplastic syndrome therefore leads to increased infections in about one-third of cases, some of which are accompanied by fever.
Bleeding tendency: Formation or function of blood platelets impaired
More symptoms
Is MDS curable or treatable?
Depending on the risk group, the course of the disease differs significantly when “myelodysplastic syndrome” is diagnosed, and thus also the prognosis and life expectancy. Factors that have an unfavorable influence on the course of the disease are, for example, a high proportion of blasts, complex chromosomal alterations, severe cytopenia, older age or poor general health.
- at very low risk, an average of just under nine years (106 months)
- at low risk a good five years (64 months)
- at medium risk, three years (36 months)
- at high risk a good 1.5 years (19 months)
- at very high risk about ten months
Treatment
Since myelodysplastic syndromes differ significantly from person to person in their course of disease, the treatment is also individually quite different. In addition to the state of health of the affected person and his or her wishes, the therapy of MDS is primarily based on the severity of the disease.
Treatment of low-risk MDS
In people with low-risk MDS, the disease progresses slowly, so they often require only minor therapeutic support for many years. If no symptoms have yet appeared, a “watch and wait” strategy is often useful: Here, the physician regularly monitors the course of the disease. Only when the disease actually progresses does he initiate therapy.
Supportive therapy
As a rule, “supportive therapy”, i.e. a supportive treatment of the disease, is used in the case of low MDS. The aim is to replace the loss of function without, however, curing the disease. Possible supportive measures in myelodysplastic syndrome include:
- transfusion of red and white blood cells or platelets
- Early administration of antibiotics for any unclear infection
- Vaccination against pneumococcus and annual flu vaccination
- Avoidance of non-steroidal painkillers or cortisone
Therapy with growth factors
Influence on the immune system
Myelodysplastic syndrome also affects the cells of the immune system. Affected patients with very specific genetic changes are often helped by a drug that makes it easier for the immune system to fight tumor cells more effectively. In addition, the substance also acts directly against the tumor cells and also increases blood formation. In the long term, this means that sufferers need fewer blood transfusions.
Allogeneic stem cell transplantation
In allogeneic stem cell transplantation, the affected person first receives high-dose chemotherapy. It destroys all cells in the bone marrow, including the genetically modified stem cells responsible for the disease, but also the healthy hematopoietic cells. After high-dose chemotherapy, the bone marrow is therefore no longer able to produce blood cells.
Myelodysplastic Syndrome: Treatment of High-Risk MDS.
There are several options for the treatment of high-risk myelodysplastic syndrome. These include altering DNA metabolism with azacitidine, chemotherapy, or allogeneic stem cell transplantation. Stem cell transplantation is the only treatment option that may provide a cure for MDS.
Palliative care: treatment in the terminal stage
Nutrition in MDS
Special nutrition is not usually required in myelodysplastic syndrome. However, there are certain restrictions for affected individuals who have received an allogeneic stem cell transplant: The body is unable to protect itself against pathogens for some time after high-dose chemotherapy. It is therefore important to avoid certain foods that may be particularly contaminated with germs.
- Raw meat and raw fish
- Raw and fresh milk products
- Blue cheese
- Unheated fruits and vegetables
- Nuts, almonds, sprouted grains and cereal products (these are often contaminated with mold spores)
Affected individuals will receive comprehensive information on this from hospital staff after a stem cell transplant.
Causes and risk factors
The pathologically altered stem cells produce masses of functionless cells. These quickly die or are sorted out in the spleen. In some patients who have myelodysplastic syndrome, the immature stem cells multiply massively and uncontrollably over time. The MDS then turns into acute leukemia. This is why physicians also refer to myelodysplastic syndrome as preleukemia, i.e. a preliminary stage of leukemia.
- a previous chemotherapy with cell poisons (cytostatics),
- irradiation (for example, to treat a cancer or in the case of nuclear accidents),
- radioiodine therapy (for hyperthyroidism or thyroid cancer), and
- Benzene and other solvents.
Examinations and diagnosis
The right contact person for suspected myelodysplastic syndrome is an internal medicine specialist who specializes in blood diseases or cancer (hematologist, hematooncologist). At the appointment, the physician will first inquire about the patient’s current symptoms and any previous illnesses (medical history). For example, if myelodysplastic syndrome is suspected, the physician will ask whether
- he or she gets out of breath easily even with little physical exertion,
- he has frequent palpitations or dizziness,
- he has recently been suffering more frequently from infections,
- he has a tendency to pinpoint bleeding on the skin (petechiae) or increased nosebleeds, and if
- he has had radiation or chemotherapy in the past.
Blood test
In order to clarify other possible causes for the symptoms, the doctor has the laboratory determine other blood values. These include, for example, the iron storage value ferritin and the enzyme lactate dehydrogenase (LDH). If its concentration is elevated, this indicates increased decay of certain cells. Vitamin B12, folic acid and erythropoietin are also involved in blood formation and provide the physician with additional clues for diagnosis.
Bone marrow aspiration and bone marrow biopsy
He then examines the appearance of the blood-forming cells under the microscope. In people with MDS, the doctor finds an increased number of blasts when examining the bone marrow. In addition, the appearance of the hematopoietic cells is altered.
Prevention
Since the reasons for the genetic changes in blood stem cells are unknown in most cases, it is not possible to prevent the disease effectively. However, it is advisable to avoid known risk factors or to comply with applicable safety regulations, such as occupational handling of certain solvents or radioactive radiation.
