Causes and risk factors
Bone marrow is a soft tissue inside the bone which forms stems cells that develop into blood cells i.e. RBC, WBC and platelets. Due to some genetic mutations referred to as JAK2 and MPL, the marrow is unable to produce enough blood cells. It leads to scarring and fibrosis of the tissue. The exact cause of this mutation is not known. The risk factors for myelofibrosis is age above 50 years. Myelofibrosis is also seen in diseases like leukemia, lymphoma. It is called as secondary myelofibrosis.
Clinical presentation
Symptoms of anaemia like headache, dizziness, malaise, pallor are seen. Patient experiences bone pain, palpitations, irregular heart rate, fatigue on least exertion, shortness of breath. Unexplained haemorrhages, petechiae, easy bruising, and repeated infections are observed. There is abdominal fullness due to enlargement of spleen.
Investigation
Medical history by the patient and Clinical examination by the doctor helps in diagnosis. Blood tests such as CBC is recommended. Bone marrow aspiration and biopsy, lumbar puncture is advised. Imaging studies such as USG, CT scan, MRI, PET scan may be useful for further evaluation. Genetic testing confirms the diagnosis.
Treatment
Blood transfusion is needed to correct anaemia. Treatment includes chemotherapy which consists of 3 phases – remission induction, consolidation, and maintenance therapy. Radiation therapy, targeted drug therapy may be required. Stem cell transplant and bone marrow transplant are found to be effective in treating the disease. In case of severe spleenomegaly, spleenectomy will help in managing the condition.
Other Modes of treatment
The other modes of treatment can also be effective in treating myelofibrosis. Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating myelofibrosis.
Recent updates
First medicine to treat myelofibrosis has been introduced called as ruxolitnib [ jakafi]. It works as JAK2 inhibitor.
