Myelofibrosis

Myelofibrosis is a type of bone marrow disorder characterized by scarring of bone marrow that affects the production of blood cells. Symptoms of myelofibrosis depend on the abnormalities disrupting blood cell production.

Patients may remain asymptomatic for several years. Scarring and inflammation of bone marrow result in fatigue, fever, palor, night sweats, and unexplained weight loss.

As the disorder is characterized by uncontrolled growth of cells in the bone marrow, it is considered as a type of blood cancer.

The underlying cause of the disease is not clear. It can occur in any age group, but is more common among people above 50 years.

Among children it is usually seen before three years. Treatment focuses on the specific symptoms of the disease. 

Around 20% of the people with myelofibrosis do not have any symptoms when first diagnosed. It is often diagnosed accidentally during a blood test or screening for some other condition. Symptoms, when present, develop gradually over a period of time.

Anemia is the most common symptom of myelofibrosis.

This disorder is characterized by:

• Severe fatigue and weakness
• Enlargement of spleen that causes pain under the ribs on the left side
• Fever and night sweats
• Easy bruising or bleeding
• Frequent infections
• Paleness
• Shortness of breath
• Feeling full after eating small quantity
• Bone pain
• Weight loss

The actual cause of the disease is not clear. Symptoms of the disease arise from the abnormalities that affect the production of blood cells.

The first stage is the development of abnormality in the DNA of stem cell in bone marrow. The abnormal cells divides and the many copies of these cells outnumber the healthy cells in the marrow. Scar tissue forms as a response to this, resulting in fibrosis of bone marrow. Fibrosis leads to abnormal production of blood cells from the marrow. Red blood cells are reduced while white blood cells are in excess. Certain gene mutations are associated with the development of this blood disorder.

Major risk factors of myelofibrosis are:

• Age – although the disorder may develop in any age, it is more prevalent in the age group of 50-60 years.
• Blood cell disorders – other blood disorders like essential thrombocytopenia and polycythemia vera increase the risk of developing myelofibrosis
• Exposure to chemicals – exposure to benzene and toluene enhances of risk of this disorder
• Radiation exposure – high levels of radiation exposure increase the risk of DNA damage and hence myelofibrosis

Making a diagnosis of myelofibrosis is done by performing several tests, which include:

• Blood test is the most definitive diagnostic test for myelofibrosis. Blood test reveals a very low level of red blood cells, the cause of anemia. White blood cells are usually higher, but in some rare cases this may be lower or normal. Physical examination is done to check for enlargement of liver or spleen.
• Imaging tests like X-ray and MRI also reveals enlargement of spleen and lymph nodes.
• Bone marrow biopsy helps to identify scar tissue formation in the bone marrow.
• Gene mutation analysis is used to check for specific mutations that result in myelofibrosis.

There is no single treatment method for controlling myelofibrosis. If the person is asymptomatic, no specific treatments may be recommended. Patient is under observation to look out for any changes that indicate progression of the disease.

Treatment is usually based on the type of symptoms.

Anemia is treated by blood transfusions, androgen therapy, and medications. Blood transfusion is used to increase the red blood cell count and to alleviate symptoms like weakness and fatigue. Red blood cell level can be increased by androgen therapy as well. Drugs like lenalidomide, thalidomide, and pomalidomide also improve the blood cell count.

Enlargement of spleen is controlled by surgical removal of spleen, chemotherapy, and radiation therapy. It is usually suggested when enlarged spleen causes considerable pain and complications.

Stem cell transplant or bone marrow transplant has high potential for curing myelofibrosis. Stem cells from a suitable donor is transplanted to reduce the abnormalities of affected bone marrow. Medications that target the specific mutation responsible for the development of myelofibrosis is the latest treatment method. It is still in research stage and may take few years for it to be the established method for controlling this blood disorder.

There is no known prevention for myelofibrosis. 

A few alternative and homeopathic remedies are used for managing the symptoms of myelofibrosis.

Herbal treatments are suggested in the control of a number of blood disorders.

Gentian, dandelion roots, and yellow dock are recommended to improve absorption of iron and alleviation of anemia.

Alfalfa, spirulina, and stinging nettle are also used in alleviating symptoms of myelofibrosis. 

Lifestyle modifications are necessary in order to cope with myelofibrosis.

Long-term treatments and side effects are common with myelofibrosis.

Understanding the disease and the treatment process help in taking the right decision.

Support groups are ideal for talking about the disease and to pass on information about the treatment.

Practicing yoga, meditation, exercise, and social work may all help to cope with the condition better. 

There are several complications associated with myelofibrosis.

Enlargement of spleen leads to high blood pressure in the portal veins. This may increase the chance of bleeding in stomach and esophagus.

Myelofibrosis also leads to tumors of blood cells in other parts of the body.

Easy bleeding, pain in joints, and gout are the other complications commonly seen with myelofibrosis.