How many times have you dismissed the feeling of tiredness as just a consequence of poor night’s sleep? Or abdominal discomfort as merely a result of bloating caused by poor dietary choices?
Myelofibrosis (pronounced my-eh-lo-fy-bro-sis), a rare primary bone marrow cancer that impacts the way our bodies produce blood cells, can potentially be the cause of these symptoms.
Our bone marrow is the central production site for blood cells which include red blood cells, white blood cells and platelets.
When a change or mutation occurs in the DNA of immature blood cells, the mutation will be passed onto new cells.
As time goes by, more and more abnormal cells are produced – forming fibrous scar tissue and halting the production of functional blood cells.
Unlike other forms of cancer, myelofibrosis usually develops slowly, without much symptoms initially.
However, as the condition worsens and less normal blood cells are produced, symptoms that can occur include feeling tired, weak or short of breath; experiencing pain or fullness below your ribs on the left side due to an enlarged spleen; bruising or bleeding easily; having night sweats; developing fever; and experiencing bone pain.
“I was diagnosed by accident. I had gone in for another operation on my spine and the pre-operative blood test showed that my white-blood cell count levels were very high, ” said a 76-year-old patient who prefers to be known as J.
“My doctors were concerned and referred me to a haematologist. I was then diagnosed with myelofibrosis.”
Hani, J’s daughter and primary caregiver, shared that her dad’s diagnosis of myelofibrosis came as a shock to their entire family. They have never even heard of the disease prior to his diagnosis and did not fully comprehend how it would affect their lives.
“When you hear about breast cancer or colon cancer, you can visualise what has gone wrong. But cancer of the bone marrow is not something we even knew was possible.
“What is myelofibrosis? Is it a genetic disease? Is there a cure? There was so much uncertainty because we did not know enough about the disease, ” said Hani.
Who is at risk?
According to global statistics, approximately one in 100,000 people develop myelofibrosis 3.
Due to the nature of the rare disease, much about it is still unknown.
According to the Malaysia National Registry of Myeloproliferative Neoplasms (2009-2015), myelofibrosis was commonly seen among the Chinese population and men above the age of 60.
Several specific gene mutations have been identified in people with myelofibrosis including the Janus kinase 2 (JAK2) gene which acts like a driver gene, resulting in the proliferation of red blood cells, platelets and granulocytes.
This offers a glimpse at a patient’s overall prognosis and if they will respond to treatment.
“While genetic mutations have been recognised in the development of the disease, some additional risk factors such as inflammation and interactions between various cells in the micro-environment of the bone marrow could affect myelofibrosis development, ” according to Dr Chew Lee Ping, consultant haematologist at Sarawak General Hospital.
“Myelofibrosis commonly affects the older population of over the age of 50 and some with underlying blood cell disorders.”
Living with myelofibrosis
The symptoms of myelofibrosis can be difficult to manage.
The general fatigue and poor sleep quality that patients experience due to night sweats and pain can lead to challenges in daily functioning and difficulty in completing everyday tasks.
Many adults with myelofibrosis have found themselves having to reduce their work hours or retire early because they are not able to cope.
Beyond living with the symptoms of the disease itself, being diagnosed with myelofibrosis can also lead to emotional stress and a general feeling of uncertainty.
By reaching out for support from mental health professionals and family members, patients can prevent the disease from becoming emotionally burdensome.
“I remember struggling to go about my day-to-day activities because I was so tired all the time. It really took a toll and impacted my overall mood on a daily basis.
“I am grateful for the support my family has given me from the very start. They really stepped in to help, taking me to my doctor’s appointments when I was not able to do so myself. I don’t think I could have coped otherwise, ” said J.
Management and treatment
Predicting the outlook for a patient with myelofibrosis is difficult and depends on a variety of factors.
In patients with high risk or intermediate myelofibrosis, the median life expectancy can be as short as between two and four years.
As such, taking a proactive approach to diagnosis and treatment is necessary to improve a patient’s odds for survival and quality of life.
“As many patients are asymptomatic early in the disease, it can sometimes be difficult to establish the diagnosis at this stage.
“However, more severe complications of myelofibrosis can be avoided, and a patient’s life expectancy can significantly improve with early recognition of this disease.
“With close monitoring of myelofibrosis, treatment can commence early before patients deteriorate, ” said Dr Chew.
Addressing the patient’s symptoms is the first line of approach clinicians take in managing the disease.
Treating severe anaemia (lack of red blood cells) using blood transfusions can alleviate symptoms such as tiredness and shortness of breath.
Recent studies and trials have shown benefits in utilising newer immunomodulators to reduce the size of the spleen which is enlarged in myelofibrosis patients.
A bone marrow transplant using a donor, also called an allogeneic stem cell transplant, is a potential cure for myelofibrosis. However, it carries life-threatening risks with many patients not qualifying for it because of age, stability of their condition and other health problems.
A patient’s outlook
“Prior to sitting down and discussing the next steps with the doctors, I felt frustrated. I had just recovered from my spinal issues and now I was given this new disease to worry about.
“But once I had an open discussion with my doctor and my family, and a treatment plan was put into place, I felt like we could move forward, ” said J.
J’s story is not uncommon among myelofibrosis patients.
“It is important for patients to reach out to their doctors to devise a plan for managing the disease based on their specific needs, ” said Dr Chew.
“As clinicians, our priority is to always ensure that patients are getting the necessary and right information and to support them in making informed decisions about their treatment.”
Dr Chew added that newer research has enriched the treatment landscape for myelofibrosis, and it is important that patients know that they can lead normal lives despite the disease.
Hani also stressed the importance of patients advocating for themselves and taking the necessary steps to get diagnosed and treated early.
“My dad’s doctor never once disregarded any of his symptoms or concerns that either he or I had.
“So, if you are a patient or a caregiver like me, and if you are concerned about new symptoms or the results of routine blood tests, reach out to your doctors and ask.
“Our concerns are valid and only by seeking advice from the experts can we make informed choices to make the right decision for our loved ones to live longer and healthier lives.”
This article is brought to you by Novartis.