Related articles: Myelofibrosis
Definition
Myelofibrosis is a chronic disease that affects the bone marrow.
This condition belongs to the group of chronic myeloproliferative syndromes (which also includes polycythemia vera and essential thrombocythemia), which derive from the neoplastic transformation of hematopoietic stem progenitors, which in turn leads to an excessive proliferation of mature blood cells.
In particular, myelofibrosis is characterized by a megakaryocytic hyperplasia (increase in the number and modification of the cells from which the platelets are derived) and granulocyte (from which, on the other hand, the white blood cells originate) associated with bone marrow fibrosis and hematopoiesis extramedullary.
The causes of myelofibrosis are not yet completely clear, but specific genetic aberrations have been found that affect the stem cell and alter its behavior. These include the mutation of the JAK2 gene (Janus Activated Kinase 2) and the CALR gene (calreticulin).
Myelofibrosis is divided into primary (or idiopathic, not due to other diseases or external causes) and secondary (evolution of another pathology).
Myelofibrosis is a chronic disease characterized by marrow fibrosis (modification of the structure of the bone marrow that affects its function), increase in the size of the spleen (splenomegaly) and alterations in the number of white blood cells (leukocytosis), platelet (platelet) and of red blood cells (anemia). Furthermore, the presence in the blood of erythrocytes and unripe white blood cells can also be found.
Most common symptoms and signs *
- Anemia
- Anorexia
- Asthenia
- palpitations
- Depression
- Difficulty concentrating
- Dyspnoea
- Abdominal pain
- Bone pain
- Articolar pains
- Muscle pains
- Bruising
- Edema
- Hepatomegaly
- Ease of bleeding and bruising
- Temperature
- Legs tired, heavy legs
- Abdominal swelling
- Insomnia
- Portal hypertension
- Weight loss
- Heaviness in the stomach
- Acquagenic Itching
- Nosebleeds
- splenomegaly
- Night sweats
- thrombocytosis
Further indications
In myelofibrosis, splenomegaly can lead to various abdominal disorders, such as swelling, lack of appetite, early satiety, pain in the left hypochondrium and a feeling of tension in the stomach.
Other symptoms frequently associated with myelofibrosis include profound fatigue, heart failure, dyspnea, weight loss, night sweats, low-grade fever and haemorrhagic manifestations. During the course of the disease enlargement of the liver (hepatomegaly), muscle pain in the legs, widespread itching all over the body that worsens with contact with water, difficulty concentrating, changes in sleep, anxiety and depression, bones and / or joints.
With the progression of the disease, thrombotic and / or hemorrhagic complications and portal hypertension with formation of esophageal varices can be observed. In some cases, myelofibrosis may develop into a more severe condition such as acute leukemia.
Diagnosis requires analysis of the peripheral blood smear (including cytogenetic investigations), blood count and bone marrow examination. The latter allows to detect the signs of myelofibrosis, such as the increase in fibroblasts and collagen and osteosclerosis.
Treatment is usually supportive and aimed at managing symptoms and complications. Possible therapeutic interventions include the administration of androgens (to try to induce an improvement in erythropoiesis), splenectomy, chemotherapy and radiation therapy.
