The project “United for myelofibrosis“. The main associations of patients who deal with myeloproliferative neoplasms, of which myelofibrosis is the most rare and serious form, have combined their forces for a common goal: sensitizing the regional and national institutions – on the main dissatisfied needs of patients, on their daily difficulties, on the request for effective therapeutic options and of a better quality of life, in order to give concretely to these requests. and urgent through the editorial staff of a white paper – entitled “Uniti for myelofibrosis – towards a better future. Analysis of needs and operational proposals for the management of myelofibrosis” – And of a manifesto.
The identikit of the disease
In practice, in the case of myelofibrosis, the bone marrow represents the production plant of blood cells is replaced by fibrous tissue, with consequent subversion of its structure. Thus the normal production of blood cells, from red blood cells to whites and platelets is altered.
The pathology is obviously chronic. It starts from an early phase, or pre-fibrotic, because the fibrosis of the bone marrow is not yet present. In the advanced phase, the medullary fibrosis appears and an exit of immature stem cells from the bone marrow is highlighted. These, through blood, reach the spleen and liver, where they accumulate.
Usually, when the disease manifests itself, the typical alterations are already present: in addition to fibrosis, among others, the anemia and the enlargement of the spleen. In some cases (10-15 out of 100) myelofibrosis can evolve into a more severe pathology: acute myeloid leukemia.
Identifying new therapies is fundamental. The only potentially decisive cure is marrow transplantation, but is reserved for a small percentage of patients, generally under 70 years old, due to the complexity and risks associated with it. For the rest they focus on drugs. And in this sense the research goes on, with particular attention to the inhibitors jak. These have the ability to block the Jak Stat signaling route activated in the cells which is responsible for the abnormal growth of blood cells, but also of a series of symptoms, the fiber deposit and above all of the splenomegaly, the enlargement of the spleen.
Who is striking and how it manifests itself
According to the Orphanet register, in Europe Myelofibrosis has an incidence of 0.1-1 out of 100.00 people and a prevalence of 2.7 people out of 100,000, for a total of about 350 new cases every year in Italy. These are mainly adults, with an average age of 65, but also younger people: about 1 in 4 patients are less than 56 years old at the diagnosis and about 1 in 10 is less than 46 years old.
The symptoms of myelofibrosis are varied and not very specific, such as tiredness, night sweating, fever, weight loss, itching, muscle or bones pain; This often leads to a late diagnosis, with the risk of intervening when the disease is already in advance. Among the most serious complications, the abnormal enlargement of the spleen, the increase in fibrous tissue in the bone marrow and, frequently, also anemia, which can involve recurrent blood transfusions, with a high impact on the quality of life of patients and on the management by health structures in terms of times and costs.
The choice of therapy by the ADDRAGE must be customized and dictated by the characteristics of the patients. Those with low risk and asymptomatic must undergo only control visits. On the patients at intermediate or high risk and/or symptomatic, it is, on the other hand, it is necessary to intervene with treatments and therapies. Obviously, on a case -by -case basis, measurement must be found.
“The management of the patient with myelofibrosis, especially if transfusion-dependent, is complex and requires a multidisciplinary approach to deal with not only the underlying hematological disease, but also the symptoms, complications related to pathology and those deriving from transfusion therapy, with constant attention to the quality of life”
Explains Massimo Breccia, associate professor of Hematology, Department of Translational and precision medicine, Sapienza University-Polyclinic University Umberto I of Rome.
What is asked, the five priority needs of the White Paper
At the center of the White Paper are the stories of the personal experience of patients, caregivers and the point of view of expert clinics in this area. Each of the five chapters is dedicated to one of the priority needs that emerged following a work of discussion and comparison between the representatives of the patient associations.
- Fair research and access to care
We ask to invest in new therapies, improve treatments for anemia and ensure that all patients, wherever they live, can access the most appropriate treatments. It is also proposed to involve patients in research and to enhance the culture of blood and marrow donation. - Custom care and close to the patient
A more flexible health care is asked, which uses tools such as telemedicine and better the organization of transfusions, even at home whenever possible. It is important to invest in modern structures and efficient digital systems. - Continuous psychological support
It is asked to guarantee, since the diagnosis, a psychological support as an integral part of the treatment, a path included in therapeutic paths and accessible even at a distance. - Caregiver support
It is asked that rights at work, economic aids, specific training and psychological support are guaranteed to those who take care of a person with myelofibrosis. - Information and training
Access to clear and accessible information on diagnosis, available treatments and guaranteed rights is requested. We also ask to improve the training of general practitioners and other health workers to guarantee timely diagnosis and adequate treatments.
The five points gave birth to the manifesto “United for myelofibrosis“, A synthetic document destined to authenticly represent the needs, instances and expectations of people who live with this rare disease. The manifesto, now signed by the institutions present, is a real appeal aimed at them, with concrete proposals to improve the quality of life of patients and build a more equitable health and close to the needs of patients.
