what it is, how it manifests itself and what treatments are available

Experts call them myeloproliferative neoplasms. They are blood cancers that arise directly in the bone marrow. One of these forms is the myelofibrosis.

A survey conducted as part of the Mielo-Expieghi project on who faces this type of disease and who cares for the sick shows that in half of the cases it is difficult to accept a diagnosis that often creates fear for the possible evolutions of the picture, but also signals how in at least one in two people there is the awareness of having to be strong and determined every day to take back their life. The important thing, in any case, is to know what it is also to warn yourself and reach a diagnosis as soon as possible.

Thus a woman defies the disease

“Myeloproliferative neoplasms are rare tumors affecting the bone marrow; they can have a slow but progressive trend – explains Francesco Passamonti, Professor of Hematology at the University of Insubria in Varese and Director of Hematology in Varese. I sintomi they may also be important, but some therapeutic innovations, such as Jak2 inhibitor drugs, have improved the course of these diseases: now patients can build a new daily life and set themselves small, big life goals “.

The initiative offers the experience of a woman who, two years after a bone marrow transplant, is preparing to face the challenge of climbing Mont Blanc. Her name is Francesca Masi, she is a patient with myelofibrosis, a Tuscan psychologist and passionate about trekking.

“I am a mountain lover, since I was 25 I have been spending my holidays hiking. One of my biggest wishes was to be able to climb Mont Blanc. At 40, I discovered I had myelofibrosis– and dealing with it was not easy. Many sick people – like me – climb mountains of difficulty to overcome illnesses. Now I’m fine and in July I’ll try to climb a real one, to seal this moment and celebrate the desire to live life “.

Myelofibrosis in particular is part of the so-called myeloproliferative neoplasms, rare tumors affecting the bone marrow, together with chronic myeloid leukemia, polycythemia vera. It is about are chronic indolent diseases; difficult diagnoses often occur by chance, and treatments thus begin with years of delay and therefore risks for patients.

Today, the knowledge of the genetic basis of these conditions has made it possible to develop molecules capable of specifically inhibiting the action of the genes responsible for the disease, paving the way for a new treatment approach based on molecular diagnostics. These patients have a better chance of controlling the disease even in the long term.

In Italy there are about 2,000 people with a diagnosis of the frank form of myelofibrosis, characterized by generic symptoms such as unjustified fatigue, weight loss for no clear reason, and abdominal symptoms due to an enlarged spleen (splenomegaly).

Tailor-made care

A correct therapeutic approach and the doctor-patient alliance play a fundamental role in activating the patient: only in this way can people feel involved in their own treatment path and remain active in the management of their disease. To help patients understand their level of activation in relation to the disease, MPN Tracker is available, a new and intuitive online tool that allows symptom monitoring so as to have a clear general picture of the disease to share with your reference hematologist.

“Therapeutic innovations have changed the history of chronic myeloproliferative diseases and it is now possible to live with them actively, as the challenge of Francesca Masi testifies. These are little known diseases. In this sense – says Alessandro Maria Vannucchi, Full Professor of Hematology at the University of Florence and Director of the SOD Hematology AOU Careggi – the doctor-patient dialogue becomes central in the treatment path: it is essential to address issues related to everyday life with our patients , because today coexistence with these diseases is possible ”.