Myelofibrosis: Understanding Diagnosis and Treatment
- Myelofibrosis is a rare blood disorder that impairs bone marrow, the spongey insides of the bone that produce blood cells.
- Although the cause is not always known, the disease is often linked to genetic factors or a history of other blood disorders. It is more commonly diagnosed in older adults and women.
- Symptoms of myelofibrosis vary, with some patients being asymptomatic while others experience fatigue, weakness, an enlarged spleen, night sweats, fever, and a tendency to bruise or bleed easily.
- A bone marrow biopsy is the best way to diagnose myelofibrosis.
- There are numerous treatments for myelofibrosis including JAK inhibitors and some medications currently in clinical trials. However, stem cell transplant is the only treatment that offers a cure in some cases.
Myelofibrosis is rare. Only one or two out of every 100,000 people will be diagnosed with the disease.
Read MoreRelated: What are Myeloproliferative Neoplasms?
What are the symptoms of myelofibrosis?
“Myelofibrosis can present in different ways. Patients could be totally asymptomatic or they could have many symptoms,” Dr. Goel says.
Symptoms of myelofibrosis can include fatigue, weakness, and an enlarged spleen.
The spleen is an organ that filters blood, stores blood cells, and fights infection. Patients with an enlarged spleen can have a feeling of fullness and discomfort in the abdomen.
Some people with the disease also have night sweats, fever, and a tendency to bruise or bleed easily.
How is myelofibrosis diagnosed?
Your doctor will try to understand the underlying causes and risk factors that led to your myelofibrosis, which will help decide how to best treat it.
If your doctor suspects myelofibrosis, they will run the following tests:
- Bone marrow biopsy usually provides a definite diagnosis by examining marrow tissue for scarring
- Blood tests evaluate blood cell counts and identify abnormalities
- Imaging tests like ultrasounds or MRIs assess spleen or liver enlargement, which are common in advanced stages of disease
- Genetic testing identifies specific mutations linked to myelofibrosis
Goel explains that the most common gene mutation associated with myelofibrosis is JAK2. JAK stands for “Janus Kinase” which is named after the Roman God Janus who had two faces – one that looks to the past and the other two the future.
“Similarly, this gene called Janus Kinase has two identical proteins and basically does the same thing,” she says. “It starts increasing the productivity of cells and also decreases the productivity of cells.”
Understanding primary myelofibrosis
What is a bone marrow biopsy?
A bone marrow biopsy is a medical procedure that can diagnose myelofibrosis. This critical diagnostic procedure helps assess blood and bone marrow health so your doctor can make an accurate diagnosis and a good treatment plan.
A medical professional will insert a needle into the bone to remove a sample of bone marrow for analysis. You will be given local anesthesia beforehand to minimize pain.
After the procedure, you will be monitored for any immediate complications but those are rare.
The collected bone marrow samples will be sent to a laboratory for analysis by pathologists.
How is myelofibrosis treated?
Many times patients who present with low risk disease do not have any symptoms and don’t need to treat, Dr. Goel says.
When treatment is needed, it focuses on managing symptoms, improving quality of life, and addressing the underlying causes of the disease.
- Medication: JAK inhibitors are commonly used to target the JAK2 mutation and reduce symptoms like spleen enlargement and inflammation.
- Blood Transfusions: To manage anemia, blood transfusions can replenish red blood cell levels.
- Androgen Therapy: Synthetic male hormones may be used to stimulate red blood cell production.
- Radiation Therapy: This can be used to shrink an enlarged spleen or relieve bone pain.
- Stem Cell Transplant: This involves replacing scarred bone marrow with healthy marrow from a donor.
About 15 to 20% of patients with myelofibrosis can progress to a more advanced cancer called acute myeloid leukemia which may require chemotherapy or radiation.
How does a stem cell transplant work?
A stem cell transplant is currently the only potential cure for myelofibrosis. This is a procedure that replaces the damaged or diseased bone marrow of a patient with healthy stem cells from a donor.
Generally, the patient undergoes chemotherapy and/or radiation therapy to destroy the diseased bone marrow and prepare for the transplant. Then, the patient receives the donor stem cells through a vein, similar to a blood transfusion.
The stem cells used can come from various sources, including a related donor, an unrelated match, or cord blood.
The patient stays in the hospital for several weeks to monitor for complications and prevent infections.
Some patients experience side effects such as nausea, fatigue, mouth sores, bleeding, and graft-versus-host disease (GVHD), which is a condition where the donor cells attack the patient’s healthy tissues.
Like many other treatments for this disease, Dr. Goel cautions that stem cell transplant can be quite expensive. Cost varies depending on the hospital, insurance coverage, and follow-up care.
Some patients may qualify for financial assistance programs or clinical trials that can reduce the cost.
Dr. Goel also warns that stem cell transplant is a high-risk procedure and not suitable for all patients.
“This procedure can be very risky as there’s a high risk of infection, rejection of the bone marrow, and something called graft versus host disease, in which your own immune system rejects the different parts of the body,” she says. “It can be suitable for healthier, fitter patients and where the source of bone marrow is available.”
Related: Related: People With Blood Cancer Are More Vulnerable to COVID-19
Are there any new treatments in the works for myelofibrosis?
There are currently four JAK inhibitors approved to treat myelofibrosis. None cure the disease and all can have side effects or lose effectiveness over time.
However, Dr. Goel says she is excited about some potential treatments in the works.
“We have different clinical trials in myelofibrosis and you should always ask your doctor, your medical team about the different clinical trials available to you,” Dr. Goel advises.
Current treatments for myelofibrosis in clinical trials:
“We have come a long way in the last 20 years with many discoveries, new drugs, and many treatment options. So there is a lot of hope in this disease and we are improving the treatment day by day as we speak,” Dr. Goel says.
Related: SurvivorNet Clinical Trial Finder
Questions for your doctor
- If your doctor suspects myelofibrosis, you will have questions. Some you might ask include:
- What tests will you run to diagnose myelofibrosis?
- How can we manage my myelofibrosis symptoms effectively?
- What treatment options are currently available for my condition?
- How much will treatment cost?
- Are there any clinical trials right now that might be suitable for me?
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