Myelofibrosis treatment aims to get rid of the signs and symptoms of the disease. Although challenging for the body, a bone marrow transplant may be beneficial for some patients.
The first step in deciding which options to consider for myelofibrosis treatment; Your doctor will determine your condition using various methods. While low-risk myelofibrosis may not require immediate treatment, people with high-risk myelofibrosis may be referred for aggressive treatment, such as a bone marrow transplant.
Myelofibrosis Risk Factors
Myelofibrosis (MF) occurs when uncontrolled signal transmission in the JAK pathway, which regulates blood cell production, causes defective blood cell production, resulting in spleen enlargement.
Patients may also experience resistance-lowering symptoms such as fever, moderate fatigue, skin rash (itching), night sweats, weight loss, bone or muscle pain, and poor quality of life.
MF is a type of Philadelphia (Ph) chromosome negative myeloproliferative neoplasm, a group of diseases in which certain types of blood cells are overproduced in the body and their normal function is impaired.
In myelofibrosis, the presence of any of the following risk factors may indicate that a patient is at moderate risk:
- Hemoglobin level <10 g/dL
- Leukocyte count > 25 × 10⁹/L
- Age > 65 years
- Red blood cell transfusion dependency
- Circulating blast cells ≥ 1%
- Platelet count <100 × 10⁹ / L
- Night sweats, weight loss, spleen enlargement
New or increasing splenomegaly is considered a marker of disease progression in myelofibrosis.
Myelofibrosis Diagnostic Tests
The following tests may be helpful to confirm the diagnosis of myelofibrosis:
Full Blood Count Blood Test: This test is done to look for signs of high blood cell count or low total blood count (pancytopenia). In the early stage of the disease, the bone marrow may be overactive and produce too many blood cells. This stage happens before the fibrous scarring starts to become very prominent and damages the bone marrow. In the later stages of the disease, blood cell counts may be low.
JAK2 Test: It is done to see if there is a gene change called the JAK2 V617F mutation. About 50% of people with MF show this mutation. Recent studies have shown that approximately 50-60% of patients have a mutation in a protein called JAK2. 25-30% have a mutation in a gene called Calreticulin, and 2-5% of patients have a mutation in a protein called MPL. Both JAK2 and MPL are proteins that regulate blood cell production. Calreticulin plays a role in calcium flux within the cell, which is also important in growth signals.
Abdominal Ultrasound: If myelofibrosis is suspected, it can be checked whether the spleen is enlarged. This is because, in MF, your spleen starts to produce blood cells and they collect in the spleen. Ultrasound is a painless test.
Bone Marrow Biopsy: It is a bone marrow test done in the hospital. A small amount of bone marrow is removed from the hip bone using a needle. The bone marrow tissue is then examined in a laboratory. Thus, your doctor can see how the stem cells in the bone marrow are working and whether there is fibrosis in the marrow.
Myelofibrosis Treatment Stages
Chemotherapy and radiation therapy are used to treat enlarged spleens through killing cancer cells. In extreme cases, a doctor may perform a splenectomy to remove the spleen all together, but this comes with several risks including the possibility of stroke.
The most common first step to reducing spleen size is to use a drug therapy like Ruxolitinib (Jakafi) that targets the mutated cancer cells. This has often proven effective in reducing spleen size and associated symptoms. For patients who have been on Ruxolitinib, and have not seen the hoped-for success, clinical trials are a great option. One clinical trial specifically uses Ruxolitinib, combined with another drug, Parsaclisib, together to increase the success of the drug therapy treatment.
What is The Best Treatment for Myelofibrosis?
The symptoms experienced and overall health of every cancer patient is different. Because the disease has both different types and different stages, the best treatment option for each patient varies. Depending on a patient’s condition, MF treatment and monitoring practices include:
- Close observation
- Blood transfusions
- Splenectomy or radiation to the spleen
- Stem cell transplantation
- Bone marrow transplantation
- Supportive care
Advanced clinical research aims to improve MF treatment, prevention, and diagnostic options. As of now, there are 56 myelofibrosis clinical trial trials underway in the United States available for patients to enroll in.
Which Drugs Are Used in the Treatment of Myelofibrosis?
To determine which drug should be used to treat myelofibrosis, the doctor takes several factors into considerations like age, symptoms, and gene mutations. Drugs used in the treatment:
- Ruxolitinib (Jakafi)
- Inrebic (fedratinib), the only other FDA approved targeted therapy for myelofibrosis