Myelofibrosis is a rare type of disease that happens due to mutations that leads to changes in the bone marrow, which results in disorder in the process of cell proliferation and signaling. As a consequence of the mutation, there is an increase in the production of abnormal cells that leads to the formation of scars in the bone marrow over time.
Due to the proliferation of abnormal cells, myelofibrosis is part of a group of hematological changes known as myeloproliferative neoplasia. This disease has a slow evolution and, therefore, the signs and symptoms only appear in the more advanced stages of the disease, however it is important that the treatment is started as soon as the diagnosis is made to prevent the progression of the disease and progression to leukemia, for example.
The treatment of myelofibrosis depends on the person's age and the degree of myelofibrosis, and bone marrow transplants may be necessary to cure the person, or the use of medications that help to relieve symptoms and prevent disease progression.
Myelofibrosis symptoms
Myelofibrosis is a slowly evolving disease and, therefore, does not lead to the appearance of signs and symptoms in the early stages of the disease. Symptoms usually appear when the disease is more advanced, and there may be:
- Anemia; Excessive tiredness and weakness; Shortness of breath; Pale skin; Abdominal discomfort; Fever; Night sweat; Frequent infections; Loss of weight and appetite; Enlarged liver and spleen; Pain in bones and joints.
As this disease has a slow evolution and has no characteristic symptoms, the diagnosis is often made when the person goes to the doctor in order to investigate why they often feel tired and, from the tests performed, it is possible to confirm the diagnosis.
It is important that diagnosis and treatment are initiated in the early stages of the disease in order to avoid the evolution of the disease and the development of complications, such as the evolution to acute leukemia and organ failure.
Why it happens
Myelofibrosis happens as a consequence of mutations that happen in DNA and that leads to changes in the process of cell growth, proliferation and death. These mutations are acquired, that is, they are not inherited genetically and, therefore, the child of a person who has myelofibrosis will not necessarily have the disease. According to its origin, myelofibrosis can be classified into:
- Primary myelofibrosis, which has no specific cause; Secondary myelofibrosis, which is the result of the evolution of other diseases such as metastatic cancer and essential thrombocythemia.
Approximately 50% of the cases of myelofibrosis are positive for a mutation in the Janus Kinase gene (JAK 2) that receives the name JAK2 V617F, in which due to the mutation in this gene there is an alteration in the cell signaling process, resulting in the laboratory findings characteristic of the disease. In addition, it was found that people with myelofibrosis also had the MPL gene mutation, which is also related to changes in the cell proliferation process.
Diagnosis of myelofibrosis
The diagnosis of myelofibrosis is made by the hematologist or oncologist through the evaluation of the signs and symptoms presented by the person and the result of the requested tests, mainly blood count and molecular tests to identify the mutations related to the disease.
During symptom assessment and physical examination, the doctor may also observe palpable splenomegaly, which corresponds to the enlargement of the spleen, which is the organ responsible for the destruction and production of blood cells, as well as the bone marrow. However, as in myelofibrosis the bone marrow is impaired, overload of the spleen ends up, leading to its enlargement.
The blood count of the person with myelofibrosis has some changes that justify the symptoms presented by the person and indicate problems in the bone marrow, such as an increase in the number of leukocytes and platelets, the presence of giant platelets, a decrease in the amount of red blood cells, an increase in the number of erythroblasts, which are the immature red blood cells, and the presence of dacryocytes, which are the red blood cells in the form of a drop and which normally appear circulating in the blood when there are changes in the marrow. Learn more about dacryocytes.
In addition to the blood count, the myelogram and molecular exams are performed to confirm the diagnosis. The myelogram aims to identify signs that indicate that the bone marrow is compromised, in which cases there are signs indicating fibrosis, hypercellularity, more mature cells in the bone marrow and an increase in the number of megakaryocytes, which are the precursor cells for platelets. The myelogram is an invasive exam and, to be performed, it is necessary to apply local anesthesia, as a thick needle capable of reaching the internal part of the bone and collecting bone marrow material is used. Understand how the myelogram is made.
The molecular diagnosis is made to confirm the disease by identifying the JAK2 V617F and MPL mutations, which are indicative of myelofibrosis.
How the treatment is done
The treatment of myelofibrosis can vary according to the severity of the disease and the person's age, and in some cases the use of JAK inhibitor drugs may be recommended, preventing the progression of the disease and relieving symptoms.
In cases of intermediate and high risk, bone marrow transplantation is recommended in order to promote correct bone marrow activity and, thus, it is possible to promote improvement. Despite being a type of treatment that is able to promote the cure of myelofibrosis, bone marrow transplantation is quite aggressive and is associated with several complications. See more about bone marrow transplantation and complications.
