Characteristics
Myelodysplatic syndromes (MDS) are a group of conditions that develop when blood forming cells in the bone marrow become abnormal. Many of the blood cells formed by these bone marrow cells are defective and accumulate in the bone marrow, leaving the patient without enough normal blood cells in the bloodstream. MDS can develop slowly (indolent), or more aggressively and in about a third of patients, MDS can progress to acute myeloid leukemia (AML).
Patient materials
Uitklappen
MDS is relatively rare, with about 900 new cases in Belgium in 2021. MDS can affect people of all ages but is most common in adults over the age of 70. For most patients with MDS, the cause of the disease is unclear. However, some evidence suggests that certain people are born with a tendency to develop MDS. Furthermore, previous exposure to radiotherapy, chemotherapy or certain environmental or industrial chemicals has been shown to increase the risk for MDS.
MDS includes several subtypes. These different MDS subtypes are characterized by the number of cell types in bone marrow that look abnormal under the microscope (dysplasia), the number of cytopenias (i.e., how many blood types are abnormally low in the blood stream), the proportion of early red blood cells that consists of ring sideroblasts (i.e., red blood cells with a ring-shaped iron deposition around the nucleus), the percentage of early forms of blood cells (blasts) in the bone marrow and/or blood and the presence of certain chromosomal changes in bone marrow cells. Based on these criteria, the main MDS subtypes consist of MDS with multilineage dysplasia, MDS with single lineage dysplasia, MDS with ring sideroblasts, MDS with excess blasts, MDS with an isolated deletion of chromosome 5q and unclassifiable MDS.
Symptoms
The symptoms of MDS will depend on the type of blood cells that is affected by the disease. When patients have too few red blood cells (anemia) they often feel tired, dizzy, or weak, can suffer from shortness of breath, or have a pale skin. When the number of white blood cells is too low (leukopenia), patients tend to easily pick up infections such as coughs or colds. Finally, a low number of platelets (thrombocytopenia) can lead to easy bruising and bleeding (e.g., frequent, and severe nosebleeds, bleeding from the gums, etc.). In most patients, symptoms are mild at first and slowly get worse.
Diagnostic tests
When MDS is suspected, a blood test will be performed to measure the number of red blood cells, white blood cells and platelets in the blood. While these findings may suggest MDS, a definite diagnosis requires a bone marrow test. To this end, a bone marrow sample is removed from the hipbone or sternum (breastbone) and sent to the lab for a further evaluation of the size, shape, and genetic features of the cells in the bone marrow. In this respect, especially the percentage of blasts in the bone marrow and blood is of particular importance. In fact, to make a diagnosis of MDS, a patient must have less than 20% blasts in the bone marrow and blood. If a patient has more than 20% blasts, he/she is considered to have AML.
Treatments
The treatment for MDS depends on the type of MDS, the prognostic risk score of the patient and patient-related factors, such as age, overall health status and personal preference. In patients without symptoms, physicians may decide not to start treatment straight away. When a treatment is deemed necessary, a stem cell transplantation currently remains to be the only potentially curative solution. As a result, this is the treatment of choice for younger and relatively healthy patients.
However, for older or frail patients (the majority of MDS patients), a stem cell transplantation is not an option. For these patients, the main treatment goal is to relieve symptoms and avoid complications or side effects. If low blood counts are causing problems, blood transfusions are often used. In addition to this, drugs that increase the production (growth factors) or maturation of blood cells are frequently used in patients with MDS. Other supportive care may consist of drugs that get rid of the excess iron in the blood (originating from frequent blood transfusions) and antibiotics to treat infections. Finally, immunosuppressant medicines (e.g., anti-thymocyte globulins or ciclosporin), can be used to suppress the immune system and improve blood counts.
When additional therapy is required, hypomethylating agents are often used. For patients with a higher risk for progression to AML, chemotherapy can be considered. Finally, if a patient has the deletion 5q MDS subtype, the immunomodulatory drug lenalidomide is often used as initial therapy. Over time, MDS can become harder to treat. In the absence of clear guidelines on the optimal treatment strategy for these patients, participation in a clinical trial is recommended
Relevant patient organisations
Get connected to different patient organisations that connect you to people with the same medical history. Support amongst peers helps the burden and stress of the daily challenges that come with disorders.
Find below some organisations we can recommend.
Be aware that these groups operate mainly in Dutch or French given their local nature, don’t hesitate to contact them nevertheless.
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