A difficult NAME, myelodysplastic syndromes, which encompasses 7 blood cancers. They are rare, but overall, in Italy, they affect about 3,000 people every year. They are all caused by a dysfunction of the stem cells of the bone marrow, which thus loses some of its ability to produce “normal” blood cells. For this reason, the most frequent consequence is anemia, which can range from mild to severe. But not only: if left untreated, myelodysplastic syndromes can reduce life expectancy and develop into acute myeloid leukemia. This was discussed during the national congress of the Italian Society of Experimental Hematology (SIES), in Milan, where Maria Teresa Voso, associate professor of Hematology at Tor Vergata University and President of SIES, recalled the importance of early diagnosis.
Professor Voso, what are the symptoms of these pathologies?
“The main one is anemia, which in over 50% of cases is manifested by fatigue, asthenia, paleness of the skin and mucous membranes, tachycardia and insomnia. In the remaining cases the diseases are asymptomatic, so they are discovered only with routine investigations . The second is an unjustified increase in contracted infections or a tendency for them to heal slowly. For example, it is possible to have prolonged cough and fever. The third is bleeding: it is common for sufferers to lose blood while brushing their teeth or discover spontaneous hematomas on the body “.
How are they diagnosed?
“A simple blood count makes it possible to suspect diseases. Later, patients are sent to the specialist to carry out second-level tests, such as bone marrow aspirate. Thanks to this test, changes in the marrow are identified, the presence of immature cells such as blasts and genetic alterations such as those of the karyotype, characteristic of this pathology. Diagnostic tests also serve to estimate the severity of the disease, life expectancy and the probabilities of evolution of the disease into acute myeloid leukemia. Considering age and acute myeloid leukemia. other pathologies, it is possible to establish the best therapy “.
What treatments are available?
“In severe forms, frequent transfusions may be necessary. In low-risk ones, characterized mainly by anemia, red blood cell growth factors such as erythropoietin are used, which in 50% of cases reduces the need for transfusion. Unfortunately, its efficacy. has a limited duration, on average 2 years. Another molecule available is lenalidomide, very useful in a subtype, the 5q- syndrome. For high-risk forms, when the general conditions of the patient allow it, it is possible to administer the drug azacitidine, which is able to improve blood counts and slow down leukemic evolution in 50% of cases. The only definitive therapy for high-risk forms is stem cell transplantation, which can only be done in a limited number of cases and in younger patients, generally under 70 years of age “.
And for those who don’t respond to these treatments?
“A new molecule, luspatercept, is able to significantly improve anemia and reduce the number of blood transfusions needed in 40% of cases, with a possible improvement in response as treatment is prolonged. This drug innovative was approved last year by the European regulatory agency (EMA) in adult patients with transfusion-dependent anemia due to very low, low and intermediate risk myelodysplastic syndromes, who have ring sideroblasts and who have shown an unsatisfactory response or are not suitable for erythropoietin-based therapy. It is therefore very useful for those who have developed resistance to erythropoietin and have no other possibility of treatment, and who are forced to undergo continuous blood transfusions. positive impact on the quality of life of the patient, who no longer has to regularly attend clinics and transfusion centers. It also means reducing iron overload due to transfusions and thus improving survival. “
What is the life expectancy of the patients?
“Myelodysplastic syndromes can mainly involve cardiovascular problems, also linked to anemia. Life expectancy is limited in particular by these complications. However, it all depends on the type of syndrome: it ranges from low-risk forms that, in the absence of treatment, they have a median life expectancy of 8-10 years, up to forms with a higher risk of leukemic evolution, which, if not treated, can reduce it to 8-12 months “.
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