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Myelofibrosis (MF)


Myelofibrosis (MF)

Content guide



What is myelofibrosis (MF)?


Myelofibrosis is a rare disease affecting blood cell production in the bone marrow. The bone marrow fills with fibrous and scar tissue that prevents the normal function of the stem cells. This causes anemia, neutropenia, and thrombocytopenia, low levels of red blood cells, white blood cells, and platelets. These problems can cause symptoms such as tiredness, infections, bleeding, and bruising.


Myelofibrosis can be primary or secondary. Primary myelofibrosis is due to genetic mutations in the JAK2 gene, CALR gene, or MPL gene, which affect stem cell growth and function. Secondary myelofibrosis is due to other blood diseases such as chronic myeloid leukemia, polycythemia vera, thrombocythemia, multiple myeloma, or lymphoma.


Myelofibrosis usually affects people over 60, with no differences between men and women. Its exact frequency is unknown, but it is believed that it can affect between 0.5 and 1.5 people per 100,000 inhabitants. Diagnosis is made with blood tests and bone marrow biopsy, which is a test that involves taking a sample of tissue to view it under a microscope.


Treatment of myelofibrosis depends on the severity of the symptoms and the risk of complications. Some medicines can help shrink the spleen, which is often enlarged by abnormal production of blood cells, and improve quality of life. Other treatments may include blood transfusions, medicines to stimulate the production of red blood cells or platelets, antibiotics to prevent or treat infections, and chemotherapy to reduce the number of abnormal cells. The only potentially curative treatment is stem cell transplantation, which replaces the diseased bone marrow with a healthy one from a compatible donor. However, this procedure has many risks and is only done in selected cases.



Symptoms


Myelofibrosis (MF) is a type of bone marrow cancer affecting the body's average production of blood cells. MF causes extensive scarring in the bone marrow, leading to severe anemia that can cause weakness and tiredness.


MF symptoms can include:

  • Fatigue

  • Pain or feeling of fullness in the abdomen

  • Weightloss

  • Night sweats

  • Fever

  • Easy bruising or bleeding

  • Frequent infections

  • Skin itch



Diagnostic Tests


MF diagnoses are based on symptoms, physical examination, and laboratory tests. Some of the difficulties that can be performed are:


  • Blood tests to measure the levels of red blood cells, white blood cells, and platelets, and to detect chromosomal abnormalities

  • Bone marrow biopsy to examine the tissue under a microscope and assess the degree of fibrosis

  • Bone marrow aspirate to obtain a liquid sample of the bone marrow and analyze the cells

  • Ultrasound or CT scan to measure the size of the spleen



Treatment


Treatment of MF depends on the severity of the symptoms, the risk of complications, and the age and general health of the patient. The goal of treatment is to control symptoms and prevent or slow the progression of the disease.


Some of the treatments that can be used are:

  • Treatments to control symptoms: these include medicines to relieve pain, reduce inflammation, decrease the risk of bleeding, and fight infection. Blood transfusions or iron supplements may also be given to treat anemia.

  • Treatments to control the disease's progression include medicines that inhibit the abnormal proliferation of blood cells, such as JAK inhibitors or alkylating agents. Medications such as hematopoietic growth factors may also be used to stimulate average blood cell production.

  • Management of an enlarged spleen: The spleen can grow because it harbors excess blood cells. This can cause pain, pressure, and digestive problems. Medications such as JAK inhibitors or radiation therapy may be used to shrink the spleen. In some cases, a splenectomy, which is the surgical removal of the spleen, may be performed.

  • Management of anemia: anemia is a common and severe complication of MF. It can cause fatigue, weakness, palpitations, and shortness of breath. To treat anemia, blood transfusions or iron supplements may be used. Medications such as erythropoietic growth factors or danazol may also be used to stimulate average red blood cell production.

  • Bone marrow transplantation (BMT): BMT is the only potentially curative treatment for MF. It replaces the diseased bone marrow with a healthy one from a compatible donor. However, OMT is a complex and risky procedure that is only performed



Prognosis


The prognosis of MF depends on many factors, such as age, symptoms, blood counts, and genetic abnormalities. There is no staging system for MF, but some scoring systems can help estimate the survival and risk of complications.


One of these scoring systems is the International Prognostic Scoring System (IPSS). It uses five factors to classify MF into four risk categories: low, intermediate-1, intermediate-2, and high. The median survival ranges from over ten years for low-risk MF to about two years for high-risk MF.


Another scoring system is called the Genetically-Inspired Prognostic Scoring System (GIPSS). It uses only genetic and chromosomal abnormalities to classify MF into four risk categories: deficient, low, intermediate, and high. The median survival ranges from over 15 years for very low-risk MF to about three years for high-risk MF.



What determines the prognosis?


The prognosis of MF is determined by several factors that reflect the severity and progression of the disease. These factors include:


  • Age. Older age is associated with a worse prognosis.

  • Symptoms. The presence of constitutional symptoms (such as fever, weight loss, and night sweats) indicates a more advanced disease and a worse prognosis.

  • Blood counts. Low red blood cell count (anemia), high white blood cell count (leukocytosis), and high immature white blood cell count (blasts) are associated with a worse prognosis.

  • Genetic mutations. Specific mutations in genes such as JAK2, CALR, MPL, ASXL1, SRSF2, U2AF1, and others can affect the prognosis of MF. Some mutations are more common or specific for MF, while others are more common or specific for other blood cancers.

  • Chromosomal abnormalities. Certain abnormalities in chromosomes such as -7, inv(3), i(17q), +21, +19, 12p-, 11q-, and others can affect the prognosis of MF. Some abnormalities are more common or specific for MF, while others are more common or specific for other blood cancers.



Reminder: Prognosis varies by person


The prognosis of MF is not fixed and can vary by person. It can change over time depending on how the disease responds to treatment or progresses. It can also be influenced by other factors such as general health, comorbidities, lifestyle choices, and personal preferences.


Therefore, you must consult your doctor regularly and discuss your prognosis and treatment options. Your doctor can help you understand your risk factors and how they affect your outlook. Your doctor can also help you manage your symptoms and complications and improve your quality of life.


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