Myelodysplastic Syndrome

The myelodysplastic syndrome, short MDS, describes various diseases of the blood or the hematopoietic system which, through the genetic modification of healthy blood cells, prevent their full development and functionality and in this way attack and weaken the organism. The likelihood of developing myelodysplastic syndrome increases with age and increases sharply from the age of 60.

What is myelodysplastic syndrome?

Contrary to popular belief, a myelodysplastic syndrome no blood cancer (leukemia). Since acute myeloid leukemia (AML) can occur as a consequence in some cases, it was given synonyms such as creeping leukemia or pre-leukemia.

A parallel to leukemia is that in myelodysplastic syndrome, too, the bone marrow, the center of blood formation, is directly affected and its essential function for the organism is impaired.

With this disease, the bone marrow is no longer able to produce enough white blood cells (leukocytes), red blood cells (erythrocytes) and blood platelets (thrombocytes) and thus to ensure the transport of oxygen, the maintenance of the immune system and proper blood clotting.

causes

In nine out of ten cases of illness, there is no direct reason for one to develop myelodysplastic syndrome to recognize. The rest is either due to the consequences of radiation therapy or chemotherapy, such as is used in cancer patients, as so-called secondary myelodysplastic syndromes, or to the action of harmful and mostly toxic foreign substances such as benzene, which is contained in gasoline, for example.

It is also assumed that frequently consumed goods such as cigarette smoke, hair dyes, pesticides or alcohol can also contribute to the development of a myelodysplastic syndrome.

However, this thesis has not yet been sustainably proven. Hereditary predisposition to myelodysplastic syndrome and transmission of the disease from person to person are, however, completely excluded.

Symptoms, ailments & signs

Around half of those affected have no symptoms at all and the disease is only discovered by chance. In patients with symptoms, the signs caused by the anemia are particularly prominent. If the formation of red blood cells is disturbed, this leads to a lack of oxygen. Affected people feel tired and weak, their ability to perform and concentrate clearly decreases.

If you have to make an effort, you will quickly run out of breath. Shortness of breath and sometimes rapid heartbeat (tachycardia) occur. Dizziness can also occur. The skin color is noticeably pale. However, the production of white blood cells can also be impaired. This can be seen in weakened immune systems and the resulting recurring infections that can be accompanied by fever.

In some cases, the disease reduces the number of platelets in the blood. Since these are responsible for blood clotting, injuries bleed more and for longer than normal. Bleeding gums are common. Petechiae can also form. These are small, punctiform hemorrhages in the skin. Another symptom is enlargement of the spleen. As the spleen has to work harder due to the lack of platelets, it increases in volume. The liver can also enlarge, which is noticeable in a feeling of pressure on the upper right side of the abdomen.

Diagnosis & course

First signs of the occurrence of one myelodysplastic syndrome are very similar to those of anemia (anemia), in which there are no longer enough red blood cells in the blood to distribute the oxygen sufficiently quickly in the organism and this leads to symptoms such as shortness of breath, paleness, tiredness, dizziness, headache, and an increased pulse rate and ringing in the ears can come.

Due to the lack of white blood cells, more infections can occur, which cannot be combated even with targeted treatment with antibiotics. As a result of the lack of sufficient blood platelets, it is often difficult to stop and unusually heavy bleeding, for example with small cuts or surgical interventions, to be observed. Frequent bruising or blood in the urine and stool can also be the first signs of myelodysplastic syndrome.

If there is any suspicion, detailed blood tests are usually carried out and the blood values ​​analyzed for deviations and abnormalities. In addition, a sample of the bone marrow is taken from the hip and examined for changes in the chromosomes, which occur in around 60 percent of cases. A myelodysplastic syndrome does not affect the body quite as quickly and devastatingly as leukemia, but therapy should be started quickly after diagnosis, as it can otherwise be caused by infections, for example of the lungs or intestines, or by a acute leukemia developing from myelodysplastic syndrome can lead to life-threatening circumstances.

Complications

This syndrome is the main cause of severe anemia. This generally has a very negative effect on the patient's state of health and can also significantly reduce life expectancy. Due to the anemia, those affected appear very tired and exhausted and no longer actively participate in life.

There is also weakness and the patient's resilience also decreases. Those affected can no longer concentrate and appear very pale. Furthermore, the syndrome leads to a racing heart and dizziness. Due to the reduced blood flow, those affected also suffer from ringing in the ears and headaches.

The quality of life is significantly reduced and the patient is often irritable. Even small wounds or cuts can cause profuse bleeding, and the blood can also appear in the urine. As a rule, a complete cure of the syndrome is only possible through the transplantation of stem cells.

Furthermore, those affected 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 for the syndrome, there is a significant reduction in life expectancy for those affected.

When should you go to the doctor?

Fatigue, rapid fatigue and an increased need for sleep are indications from the body of an existing irregularity. If the symptoms persist for a long time or if they become more intense, a doctor's visit is required. Concentration, attention, or memory disorders should be investigated and clarified. If the performance level drops and the daily requirements can no longer be met, a doctor should be consulted. In the case of a lack of the usual resilience, a pale skin or an internal weakness, a doctor's visit is necessary.

If there are disturbances of the heart rhythm, palpitations, dizziness or unsteadiness of gait, a doctor's visit is recommended. A doctor should be presented with an increased body temperature, general malaise or a feeling of illness. These are warning signals from the body that require action. Spontaneous bleeding of the gums, changes in the appearance of the skin as well as incomprehensible bruises are signs of a health impairment.

If the person concerned notices a swelling on the upper body or general functional disorders arise, they need medical help. Sensory disturbances in the upper body, hypersensitivity to touch or the effects of pressure indicate an irregularity in the organism. A doctor should be consulted as soon as possible with these complaints so that a treatment plan can be drawn up to alleviate the symptoms. In addition, serious and acute illnesses must be excluded.

Treatment & Therapy

A myelodysplastic syndrome can ultimately only be completely cured by a successful stem cell transplant. All other treatment methods are only palliative, that is, the symptoms of the disease are alleviated in nature.

The red blood cell deficiency can e.g. be combated by regular blood transfusions, the lack of blood platelets by thrombocyte concentrates. Vaccinations against influenza and pneumococci and preventive antibiotic treatment are given to prevent infections. In addition, intensive personal hygiene and avoidance of contact with possible carriers of the disease are recommended.

If the clinical picture is already well advanced, chemotherapy is often carried out, which eliminates the rapidly growing cells in the bone marrow and blood and thus temporarily restores 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 attending physician.

That is why the MDS Register Düsseldorf has existed since 2003, with the aim of classifying the course of the disease more individually and more precisely and on this basis being able to develop tailor-made therapies to combat the myelodysplastic syndrome.

Outlook & forecast

The prognosis for a myelodysplastic syndrome varies from patient to patient. It depends on the type and extent of the disease. An increasing amount of immature blood cells are formed during MDS. Therefore, there is a risk that the syndrome will pass into another form, the prognosis of which is even more unfavorable. This can be chronic myelomonocytic leukemia (CMML) or acute myeloid leukemia (AML).

Overall, the MDS prognosis is rather poor. Factors such as complex chromosomal changes or a pronounced proportion of blasts within the blood as well as a high decay rate have a negative effect. The same also applies to previous illnesses, poor general health or older people.

There are differences in the course and life expectancy that depend on the respective risk group. The average life expectancy for high-risk MDS is five months. However, if stem cell therapy can be carried out, there is even a prospect of a cure. This procedure is considered to be the only chance of recovery in MDS. If the risk of illness is lower, the patient has a life expectancy of up to 68 months. Up to 70 percent of all MDS sufferers die of bleeding, infections or the consequences of acute myeloid leukemia. In order to make the prognosis more favorable, it is important to strengthen the immune system. For this, the sick person needs sufficient rest, a healthy diet and sporting activities.

prevention

Due to great efforts in the last few decades, the treatment of the myelodysplastic syndrome more and more effective and efficient, so that many of those affected have a greatly increased chance of recovery or survival.

Aftercare

In most cases, those affected have very few or limited direct follow-up measures available. First and foremost, a doctor should be contacted early so that no further complications or complaints can occur. Independent healing cannot occur.

An early diagnosis always has a very positive effect on the further course of the disease, so that the person affected should ideally see a doctor at the first symptoms and signs of the disease. Those affected should protect themselves particularly well against various infections and inflammations in this disease so that there are no complications.

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. Psychological support can be helpful here to prevent depression and other psychological upsets. In many cases, however, this disease reduces the life expectancy of those affected.

You can do that yourself

For those affected, it is primarily important to clarify what type of disease they are suffering from and what therapy options are available.

If the treatment takes place by means of chemotherapy, this represents an enormous burden on 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 enough, supportive therapy with micronutrients that is tailored to individual needs must be carried out in cooperation with the doctor.

If there is a possibility of a stem cell transplant, the person concerned can organize donation events together with friends, family and colleagues, at which the population is specifically asked to register in the bone marrow donor database. Even if there is no suitable donor for you among the newly registered, it can mean the longed-for donation for others affected.

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. In order to avoid organ and tissue damage, this must be removed from the body with medication. The tablets required for this must be taken very carefully, even if side effects occur, as an excess of iron only causes symptoms when permanent damage has already occurred to the organism.