Myelofibrosis

Diagnosis

Methods and assessments employed for the diagnosis of myelofibrosis include:

• Physical examination: Your doctor will conduct a comprehensive physical examination, assessing vital signs like pulse and blood pressure. They will also examine your lymph nodes, spleen, and abdomen. 
• Blood tests: In myelofibrosis, a complete blood count typically reveals lower-than-normal levels of red blood cells, indicative of common anemia in individuals with myelofibrosis. White blood cell and platelet counts are often abnormal as well. White blood cell levels may be higher than normal, while in some cases, they may be normal or even lower. Platelet counts may vary from higher to lower than normal. 
• Imaging tests: Additional information about your myelofibrosis may be obtained through imaging tests such as X-rays and magnetic resonance imaging (MRI). 
• Bone marrow examination: Confirming a myelofibrosis diagnosis involves a bone marrow biopsy and aspiration. A needle is used to extract a sample of bone tissue and the enclosed marrow from your hipbone. During the same procedure, another type of needle may be employed to withdraw a sample of the liquid portion of your bone marrow. Laboratory analysis of these samples determines cell numbers and types. 
• Testing for gene mutations: Laboratory examination of your blood or bone marrow cells for gene mutations, such as JAK2, CALR, and MPL, is conducted. The information obtained from these tests aids your doctor in determining prognosis and exploring treatment options. 

Treatment

The primary objective of treating most individuals with myelofibrosis is to alleviate the signs and symptoms of the disease. While a bone marrow transplant may offer a potential cure for some, its rigorous impact on the body renders it an impractical option for many. 

To determine the most suitable myelofibrosis treatments for you, your doctor may employ one or more assessment formulas. These formulas consider various aspects of your cancer and overall health, assigning a risk category that indicates the disease’s aggressiveness. 

Low-risk myelofibrosis may not necessitate immediate treatment, while individuals with high-risk myelofibrosis may contemplate aggressive options such as a bone marrow transplant. Intermediate-risk myelofibrosis typically involves treatments focused on symptom management. 

Prompt intervention might not be necessary

Treatment for myelofibrosis may be unnecessary if you are asymptomatic. If you do not currently exhibit an enlarged spleen, and your anemia is either absent or very mild, immediate treatment may not be required. Instead, your doctor is likely to closely monitor your health through regular checkups and examinations, observing for any indications of disease advancement. Some individuals can remain free of symptoms for an extended period. 

Treatments for anemia

In the presence of significant anemia due to myelofibrosis, treatment options may include:

• Blood transfusions: If severe anemia is present, periodic blood transfusions can boost your red blood cell count, alleviating symptoms like fatigue and weakness. In some cases, medications may be prescribed to enhance anemia. 
• Androgen therapy: Utilizing a synthetic version of the male hormone androgen may stimulate red blood cell production and potentially improve severe anemia in certain individuals. However, this therapy comes with risks, including liver damage and masculinizing effects in women. 
• Thalidomide and related medications: Thalidomide and its counterpart lenalidomide may contribute to enhanced blood cell counts and relief from an enlarged spleen. These medications may be combined with steroid treatments. It’s important to note that thalidomide and related drugs carry a risk of serious birth defects, requiring special precautions. 

Treatments for an enlarged spleen

If complications arise from an enlarged spleen, your doctor might suggest intervention. Treatment possibilities may involve:

• Targeted drug therapy: This approach focuses on specific abnormalities within cancer cells, particularly those with the JAK2 gene mutation in the case of myelofibrosis. These targeted treatments aim to alleviate symptoms associated with an enlarged spleen. 
• Chemotherapy: Chemotherapy employs potent drugs to eliminate cancer cells. In myelofibrosis, chemotherapy medications may shrink an enlarged spleen and alleviate associated symptoms, such as pain. 
• Surgical spleen removal (splenectomy): If the spleen enlarges to the extent of causing significant pain and complications unresponsive to other treatments, surgical removal may be considered. Risks include infection, excessive bleeding, and the formation of blood clots leading to stroke or pulmonary embolism. Post-procedure, some individuals may experience liver enlargement and an abnormal increase in platelet count. 
• Radiation therapy: This method utilizes high-powered beams, such as X-rays and protons, to eradicate cancer cells. When surgical removal is not a viable option, radiation therapy can help reduce the size of the spleen. 

Bone marrow transplant

A bone marrow transplant, also known as a stem cell transplant, is a procedure designed to replace diseased bone marrow with healthy blood stem cells. In the case of myelofibrosis, this procedure involves utilizing stem cells from a donor, known as an allogeneic stem cell transplant.

While this treatment holds the potential to cure myelofibrosis, it comes with a considerable risk of life-threatening side effects. One such risk is the possibility that the transplanted stem cells may mount an immune response against the recipient’s healthy tissues, a condition known as graft-versus-host disease.

Not everyone with myelofibrosis qualifies for this treatment, as factors like age, disease stability, or other health issues may preclude eligibility. Before undergoing a bone marrow transplant, individuals typically undergo chemotherapy or radiation therapy to eliminate diseased bone marrow. Subsequently, infusions of stem cells from a compatible donor are administered.