Causes and risk factors
Every year in Europe, myelodysplastic syndrome is diagnosed in 1 person in 12,500 inhabitants. But basically, the disease affects elderly people: over 70 years old, about 1 person per 3000 inhabitants gets sick annually, and at the age of 60 years it appears very rarely.
Which are the symptoms?
These are diseases whose onset may not be immediately apparent. Usually, a doctor is consulted after a state of anemia is detected, which may be asymptomatic for some time, depending on the rate of spread of the disease and the body's ability to adapt to a decrease in hemoglobin. In addition to the state of anemia, severe neutropenia and thrombocytopenia may also be evident at the diagnosis, presenting with skin hemorrhagic manifestations (petechiae, ecchymosis or hematomas).
Before a diagnosis of myelodysplastic syndrome can be confirmed, it must be ensured that the anemia and cytopenia are not due to other causes. Once secondary causes have been excluded, bone marrow evaluation is carried out, which allows to define exactly which myelodysplastic syndrome the patient is suffering from.
How is it diagnosed?
The following tests are necessary for a complete diagnosis:
- the blood count allows to quantify the various types of cells present in the blood;
- the dosage of erythropietin (EPO) helps to choose the most effective treatment for anemia
- microscopic observation of blood cells and bone marrow allows to identify cells with structural alterations (dysplastic), immature cells (blasts) and ring sideroblasts;
- the immunophenotype allows to characterize the proteins present in the pathological cells;
- the cytogenetic analysis of chromosomes is used to identify the chromosomal alterations present in the pathological cells, which decisively influence the evolution of the disease;
- DNA analyzes make it possible to establish whether all pathological cells derive from a single damaged stem cell (clonality);
- the histological examination can allow to exclude causes of cytopenia other than MDS (bone marrow aplasias, lymphoproliferative disorders, etc.) and provides information on the distribution and percentage of the blast portion, in addition to cellularity (hypoplastic forms) and medullary fibrosis.
How is it treated?
Before starting treatment, patients with myelodysplastic syndromes undergo a follow-up period, especially if they are elderly or in poor health, or if there are doubts about the diagnosis. In any case, treatment is started only when symptoms appear due to anemia or a lack of white blood cells and platelets. The choice of therapy depends on the characteristics of the patient (age, health status) and the disease (IPSS and WPSS rating systems). Based on these estimates, treatment modalities can range from periodic patient follow-up to maintenance therapy alone, hypomethylating drugs, to intensive chemotherapy and donor stem cell transplantation. There are also numerous clinical trials of MDS that allow the patient to access treatments that would otherwise not be possible.