Myelofibrosis; Causes, Symptoms & Treatment

Overview

The term myelofibrosis means fibrosis or scarring of bone marrow tissue. Myelofibrosis is a rare type of cancer of the bone marrow that can damage the production of blood cells in your body. It belongs to the group of disorders known as myeloproliferative neoplasms (MPNs). Your bone marrow is a spongy tissue that is present inside your bones and synthesizes blood cells. Myelofibrosis causes scarring in your bone marrow, leading to severe anemia and a low number of blood-clotting cells called platelets, leading to the risk of bleeding.

Signs & Symptoms

Some individuals with myelofibrosis may present with no symptoms, whereas some may have severe forms of illness. Myelofibrosis can lead to the following symptoms:

• Fatigue and weakness due to anemia 
• Frequent infections
• Pain or bulge in the left ribs due to an enlarged spleen
• Night sweats
• Itchy skin
• Bleeding and bruising easily 
• Weight loss
• Pain in bones and joints
• Fever

Causes of Myelofibrosis

The disease is caused when your genes have a probable defect. It has been observed that mutations in the DNA of bone marrow stem cells can contribute to myelofibrosis. Many individuals with myelofibrosis do not have identifiable gene mutations. Determining whether gene mutations are associated with myelofibrosis helps to predict prognosis and treatment. Generally, genetic mutations are observed in genes such as JAK2, CALR, and MPL.

The stem cells can replicate and divide into the multiple specialized cells which make up your blood — platelets, white blood cells and red blood cells.However, in myelofibrosis this gets seriously affected .

Risk Factors

The disease can affect individuals of all ages. However, the disease takes an aggressive form in the presence of the following risk factors:

• Age: Individuals in the middle or older age (above 50 years) are mostly diagnosed with this disease. 
• Blood cells disorder: Certain disorders of blood cells such as thrombocytopenia (related to platelets) and polycythemia vera (related to red blood cells)  can make a person prone to myelofibrosis.
• Exposure to chemicals and radiation: Individuals exposed to industrial chemicals like benzene  and high exposure to radiation are at an increased risk of myelofibrosis.

Complications

Some complications associated with myelofibrosis are:

• Severe pain in the back and abdomen (due to enlarged spleen)
• Acute leukemia (type of blood cancer)
• Formation of blood cells and lumps outside the bone marrow
• Increased pressure on the blood flowing to liver leading to portal hypertension
• Bleeding complications

When to See a Doctor

Request an appointment at Apollo Hospitals if you experience symptoms of myelofibrosis. 

Request an appointment at Apollo Hospitals

Call 1860-500-1066 to book an appointment

Diagnosis

The tests and procedures conducted for the diagnosis of myelofibrosis are as follows:

• Physical examination: Pulse, blood pressure, presence of lymph nodes, enlarged spleen
• Blood test: complete blood count 
• Examination of bone marrow: Biopsy and aspiration
• Imaging tests: X-ray, MRI
• Testing for gene mutations: Doctors will usually analyze bone marrow cells and blood cells for specific gene mutations.

Prevention and Treatment

The goal of treatment for myelofibrosis is to reduce the severity of signs and symptoms of the disease. Individuals with mild myelofibrosis might not require immediate treatment if you don’t have an enlarged spleen and you don’t have anemia or your anemia is very mild. Rather than treatment, your doctor is likely to monitor your health closely. Some people remain symptom-free for years.

Treatments for Myelofibrosis include :

1. Treatment of anemia: 
2. Blood transfusions 
3. Androgen therapy
4. Thalidomide and related medications.  Thalidomide and related drugs carry a risk of serious birth defects and require special precautions.

Treatment for enlarged spleen: 

1. Targeted drug therapy: Targeted treatments for myelofibrosis focus on cells with the JAK2 gene mutation. 
2. Chemotherapy 
3. Splenectomy (surgical removal of the spleen). 
4. Radiation therapy: Radiation therapy helps reduce the size of the spleen when surgical removal is not an option.

3. Bone marrow transplant: Also known as the stem cell transplant, the procedure involves  replacing the diseased bone marrow using the healthy blood stem cells. For myelofibrosis, the procedure makes use of stem cells from a donor (allogeneic stem cell transplant).
4. Supportive Care: Supportive care for myelofibrosis involves specialized medical care that focuses on providing relief to diseased individuals from the symptoms of illness. Palliative care improves the quality of life of individuals .

Living with Myelofibrosis

Myelofibrosis can be stressful as a long-lasting illness. While mild myelofibrosis may not cause any severe symptoms, it can eventually worsen and lead to an aggressive form of cancer. The treatment is accomplished based on the clinical guidelines and algorithm. It is vital to coping with pain, discomfort, and side effects associated with long-term treatments. Take support from your friends and family while managing the illness.

Frequently Asked Questions (FAQs)

Is MPN a type of cancer?

Yes, MPN is a rare and uncommon type of cancer of the bone marrow cells.

What are the risk levels of myelofibrosis?

• Low-risk myelofibrosis involves very few to no symptoms. Patients require regular monitoring .
• Intermediate-risk myelofibrosis involves mild to acute symptoms. At this stage, the condition can be treated or managed to relieve the symptoms.
• High-risk myelofibrosis involves a severe form of illness in which removal of spleen and bone marrow transplant may be needed. 

What happens in the transplantation procedure of bone marrow?

The procedure of bone marrow transplant involves replacing the diseased bone marrow cells and transferring new bone marrow stem cells. It restores the normal blood cells and can be considered a potential cure for the disease.

Is there any risk associated with a bone marrow transplant?

There are risks of side effects in  bone marrow  transplant therapy. The new stem cells could also react against your body’s healthy tissues (graft-versus-host disease).

How do I cope with myelofibrosis?

Diagnosing with myelofibrosis may involve coping with pain, discomfort, and side effects. You are likely to face frequent bloodwork and medical appointments for bone marrow examination. You may also feel sick on some days. Try to find activities that help you adopt a flexible work schedule. Seek help from your therapist and oncologist if you need help dealing with the emotional challenges of the illness.