In Italy, about 3,000 people over the age of 70 are affected by myelodysplastic syndrome, also known as myelodysplasia: these are blood diseases due to damage to one of the stem cells of the bone marrow and are characterized by a lack of blood cells. Damaged stem cells, in fact, fail to produce an adequate amount of functional blood cells, resulting in a lack of red blood cells, white blood cells and/or platelets. In some cases, myelodysplastic syndromes are transformed into acute myeloid leukemia. Prof. Matteo della Porta, Head of the leukaemia and myelodysplasia section at Humanitas and professor of haematology at Humanitas University, talked about it in an interview with Corriere della Sera.

On the occasion of the World Awareness Day on the disease, the Italian Myelodysplastic Syndrome Patients Association (AIPASIM) and the Italian Myelodysplastic Syndrome Foundation (FISM) celebrated the event with the scientific conference “Myelodysplastic Syndromes: topicality in clinical approach” in Milan. The objective of the conference was to share knowledge on the subject, to discuss the clinical implications of new biological acquisitions, to provide practical guidelines to improve the diagnostic process and consequently the best therapeutic choice for patients.

Symptoms of myelodysplasia

“The most relevant symptoms that occur at the onset of the disease – explained Matteo della Porta, Head of section leukaemia and myelodysplasia in Humanitas and professor of hematology at Humanitas University – are anemia, which is present in all patients and which is a cause of fatigue, lack of physical endurance, tachycardia and leg cramps, platelet cancer that can cause bleeding and leukopenia that can cause recurrent infections. “In more advanced stages the disease affects the functionality of different organs, such as the heart and the circulatory system in the first place – added Prof. Della Porta – generating additional complications that reduce the life expectancy of patients. Clinically, they are extremely heterogeneous pathologies: they range from patients who have the same life expectancy as the general population of the same age, to cases that, instead, have a very rapid evolution in acute leukemia within a few months. Patients have specific care needs, and it is therefore necessary to develop targeted diagnosis, treatment and health care pathways”, concluded Della Porta.

Pathology networks: sharing to prevent and combat disease

As was also stressed at the scientific conference, the role of Pathology Networks is essential for the exchange of information on best practices and for scientific updating. Thanks to the work of the networks, the first mapping of these pathologies in Italy has been completed, through the connection of all the disease registers present on the national territory. These cross-references are useful to develop appropriate and sustainable health policies.

New targeted treatments

“The contrast to the disease is characterized today on two different levels of approach – explained Prof. Della Porta -: the one related to patients whose main problem is bone marrow failure and with a low risk of leukemic progression, in which therapeutic efforts must be directed to the correction of anemia” and the “segment instead of 20-25% of cases in which the disease is more aggressive and in which the therapy must be aimed at avoiding leukemic progression”. “In relatively younger cases, haematopoietic stem cell transplantation represents a real possibility of treatment, while in patients not eligible for transplantation, we have an increasing number of drugs that can effectively control the disease and improve quality and life expectancy. Today myelodysplastic syndromes are one of the hematological diseases for which more innovative treatments are available,” concluded the professor.