One of the warning signs of this disease is abdominal swelling. 85% of patients diagnosed with myelofibrosis have theenlargement of the abdomen due to enlargement of an abdominal organ called the spleen. Other symptoms to watch out for include: extreme tiredness, weakness, bone pain, weight loss, fever, susceptibility to infection, bleeding episodes from low platelet counts, night sweats, and itchy skin. About a third of patients have no symptoms at the time of diagnosis, since the progression of the disease is usually quite silent and symptoms usually appear at an advanced stage. In later stages of the disease, an enlarged liver can also occur.
Although it is very complex to reach a definitive diagnosis of the disease, the first step is a physical examination, in which the enlargement of the spleen can be noted. Studies such as CBC (complete blood count) with blood smears and genetic testing may then proceed. In the blood smear evaluated under the microscope by a specialist, red blood cells can be seen in the form of tears. A bone marrow biopsy is usually needed to make a definitive diagnosis and rule out other causes of symptoms.
Myelofibrosis has treatment to improve symptoms and slow the progression of the disease. Treatment is not universal and varies depending on the patient and the degree of progress. In young people, bone marrow transplantation could be indicated to improve the prognosis and cure the disease, but the decision must be carefully studied. Other treatments may involve blood transfusions and medications to correct anemia, chemotherapy, medications that target a genetic mutation linked to this disease (if present).
When a patient receives a diagnosis of myelofibrosis, many times the urgency is focused on attending to the body, relegating the emotional aspects. Therefore, in addition to medical treatments, psychological support is important. ACLA provides free meetings for patients with myelofibrosis and their families who want to support and accompany them throughout the disease process.
On World Rare Disease Day, ACLA joins the awareness activities about this pathology, dedicating its efforts to make its symptoms visible, to promote early diagnosis and improve people’s quality of life. For more information, you can go to the website www.mielofibrosis.com.ar.
Medical Advisor of the Civil Association Lymphomas, Myelodysplasias and Myelofibrosis of Argentina (ACLA) MN 147,448
Source: Ambito
