Language
Country/Area
No result found
Signs of Major Myelofibrosis: Do You Notice These Early Symptoms?
Major myelofibrosis (PMF) is a rare blood cancer of the bone marrow that belongs to a group of cancers called myeloproliferative neoplasms, according to the World Health Organization (WHO) classification. This disorder is often associated with somatic mutations in the JAK2, CALR, or MPL genes. In PMF, the bone structure of the bone marrow is remodeled, a process called osteosclerosis, and at the same time, fibroblasts secrete collagen and reticular proteins, collectively called fibrosis. These two pathological processes affect the normal function of the bone marrow, resulting in a reduced production of blood cells such as red blood cells, granular white blood cells, and megakaryocytes.
The main characteristic of myelofibrosis is fibrosis within the bone marrow, but it is usually accompanied by symptoms such as splenomegaly, bone pain, and fatigue.
Early symptoms
The early symptoms of major myelofibrosis may not be easily noticed; however, once symptoms appear, patients may experience a range of disturbing conditions, including but not limited to:
- A feeling of distension in the abdomen, associated with an enlarged spleen (splenomegaly).
- Bone pain, bruising and easy bleeding due to insufficient platelet count.
- Fatigue, fever and chills.
- Weight loss and loss of appetite.
- Susceptible to infections such as pneumonia.
In many patients, early signs of major myelofibrosis include fever, night sweats, and bone pain.
Cause
The underlying cause is often related to acquired mutations in the JAK2, CALR or MPL genes. About 90% of patients with myelofibrosis have some mutation in these genes, while 10% do not. These mutations lead to abnormal activation of signaling pathways, promote the production of blood cells and affect hematopoiesis.
JAK2 mutations play an important role in the pathogenesis of myelofibrosis, as these mutations lead to persistent activation of hematopoiesis.
Diagnosis
The disease usually develops gradually in adults over 50 years of age. Diagnosis relies primarily on a bone marrow biopsy. Combined with physical examination results, doctors can detect enlargement of the spleen and liver. Biopsy results usually show the extent of myelofibrosis and help determine the severity of PMF.
Treatment
Currently the only curative treatment is allogeneic stem cell transplantation, but this approach is potentially risky. Other treatment options are primarily supportive and aim to improve symptoms and may include:
- Take folic acid, allopurinol, or blood transfusions regularly.
- Use medications such as steroids (such as dexamethasone) or interferons.
- In some cases, splenectomy may be considered to improve anemia caused by extramedullary hematopoiesis.
The FDA approved ruxolitinib in 2011 as a treatment for moderate-to-high-risk myelofibrosis, showing significantly improved results.
Conclusion
The symptoms and pathology of major myelofibrosis are complex and early warning signs may be ignored, so it is important to understand this information. Have you noticed any discomfort in your body? Perhaps these symptoms are a reminder that you should seek medical help?
