Myelodysplastic syndromes (or myelodysplasias) are blood diseases that mainly affect elderly people. We asked Professor Matteo Della Porta, Supervisor of the leukemias and myelodysplasias section at Humanitas.

“Myelodysplasias depend on a damage in the stem cells of the bone marrow. As a result, they are incapable of producing an adequate amount of functioning blood cells and thus provoke a deficiency in white and red cells, and platelets. In some cases, myelodysplastic syndromes may evolve in an acute myeloid leukemia.

It particularly affects people older than 70 years old. Taking into consideration the ever-increasing aging of the population, estimates show that diagnoses will only increase in time. We expect 5.000 new cases every year in Italy”.

What are the symptoms of this disease?

“Especially in the beginning, patients may experience anemia, thrombocytopenia and recurrent infections. Anemia is present in every patient and it may cause fatigue, shortness of breath, tachycardia and leg cramps.

It is important not to underestimate any warning bell, and to consult a doctor if they are present. The diagnosis is based on blood exams, in particular on the blood count. In fact, this disease causes cytopenia, that is a deficiency in one or more blood elements (easily detectable through analyses). In this case you should go to a hematologist. They will tell you which examinations you need to do in order to obtain a diagnosis as fast as possible.

Which treatments are available?

“Improvements in the last years made it possible to understand the molecular mechanisms that regulate myelodysplastic syndromes, and develop innovative treatments for patients. Myelodysplastic syndromes are one of the most advanced fields in personalized medicine. It uses medications to treat anemia and reduce the number of ill cells in the bone marrow, each one of them tailored to the specific molecular alterations of each patient. In addition to this, improvements in transplant technology make it possible to offer this potentially curative therapy even to 65-70 year-old patients”, Prof. Della Porta explains.

The creation of the Italian Association for Myelodysplastic Syndrome Patients ONLUS (AIPaSiM)

The Italian Association for Myelodysplastic Syndrome Patients ONLUS (AIPaSiM) has been recently established in Milan, together with a scientific committee, directed by Prof. Della Porta.

The goal of the Association is to give patients and their families, information about issues related to the disease, new treatments and new frontiers in scientific research.

The creation of the Association resulted from a sharing course that started in May 2016, on the occasion of the first meeting with patients in Milan (promoted by the Hematologic Network of Lombardy).