What is Myelofibrosis? Symptoms, Causes, & Treatment

Myelofibrosis is a rare blood cancer that affects your bone marrow, the soft tissue inside your bones where blood cells are made. In this condition, scar tissue gradually replaces the healthy bone marrow, making it harder for your body to produce normal blood cells.

This happens because abnormal stem cells in your bone marrow multiply too quickly and trigger inflammation. Over time, this leads to scarring that can interfere with your body's ability to make red blood cells, white blood cells, and platelets. While it sounds scary, understanding this condition can help you feel more prepared and in control.

What are the symptoms of myelofibrosis?

Many people with early myelofibrosis don't experience any symptoms at all, which is why it's sometimes discovered during routine blood tests. When symptoms do appear, they often develop gradually and can feel similar to everyday tiredness or stress.

The most common symptoms you might notice include feeling unusually tired or weak, even after getting enough sleep. This happens because your body isn't making enough healthy red blood cells to carry oxygen throughout your system.

Here are the symptoms that people with myelofibrosis commonly experience:

• Persistent fatigue and weakness that doesn't improve with rest
• Shortness of breath during normal activities
• Pale skin, especially noticeable in your face, hands, or nail beds
• Easy bruising or unusual bleeding from minor cuts
• Frequent infections that take longer to heal
• Feeling full quickly when eating, even small meals
• Discomfort or pain in your left side, under your ribs
• Unintentional weight loss
• Night sweats that soak your clothes or sheets
• Low-grade fever without an obvious cause

Some people also experience bone pain, particularly in their long bones like arms and legs. This discomfort might feel like a deep ache and can be more noticeable at night. These symptoms develop because your spleen often enlarges as it tries to take over some of the blood-making work that your bone marrow can no longer handle effectively.

What are the types of myelofibrosis?

There are two main types of myelofibrosis, and understanding which type you have helps your doctor plan the best treatment approach. The difference lies in whether the condition develops on its own or follows another blood disorder.

Primary myelofibrosis develops directly in your bone marrow without any previous blood condition. This type typically affects people over 60, though it can occasionally occur in younger adults. It progresses gradually, and many people live with it for years while maintaining a good quality of life.

Secondary myelofibrosis develops after you've had another blood disorder called a myeloproliferative neoplasm. The two most common conditions that can lead to secondary myelofibrosis are polycythemia vera, where your body makes too many red blood cells, and essential thrombocythemia, where you produce too many platelets.

Both types can cause similar symptoms and complications. However, secondary myelofibrosis might progress more predictably since doctors can often track how it evolved from the previous condition. Your medical team will consider your specific type when discussing treatment options and what to expect going forward.

What causes myelofibrosis?

Myelofibrosis happens when genetic changes occur in the stem cells of your bone marrow. These aren't the kind of genetic changes you inherit from your parents, but rather mutations that develop during your lifetime, often for reasons we don't fully understand.

The most common genetic change involves something called the JAK2 gene, which is found in about half of people with myelofibrosis. Other people might have changes in genes called CALR or MPL. These genetic alterations cause your bone marrow cells to behave abnormally, leading to inflammation and eventually scarring.

It's important to know that myelofibrosis isn't contagious and you can't pass it to family members through contact. Most cases develop randomly, without any clear trigger or cause that you could have prevented. While some people worry about environmental factors or lifestyle choices, researchers haven't identified specific external causes for most cases.

In rare situations, previous cancer treatments involving radiation or certain chemotherapy drugs might increase the risk of developing myelofibrosis years later. However, this accounts for only a small percentage of cases. The vast majority of people with this condition develop it without any identifiable cause, which can feel frustrating but is completely normal.

When to see a doctor for myelofibrosis?

You should contact your doctor if you experience persistent fatigue that doesn't improve with rest, especially if it's accompanied by other concerning symptoms. While these symptoms can have many causes, it's always better to get them checked rather than worry about them.

Schedule an appointment if you notice unusual bruising that appears without injury, or if small cuts bleed longer than expected. These could be signs that your platelet count is lower than normal. Similarly, if you're getting sick more often than usual or infections seem to linger, this might indicate changes in your white blood cell count.

Pay attention to changes in your appetite or if you feel full after eating just a few bites. This sensation, combined with discomfort in your left side under your ribs, could suggest your spleen is enlarged. Don't ignore persistent night sweats, unexplained weight loss, or low-grade fevers that come and go.

If you have a history of polycythemia vera or essential thrombocythemia, stay in regular contact with your hematologist. They'll monitor you for signs that your condition might be progressing to myelofibrosis. Early detection and monitoring can make a significant difference in managing your symptoms and planning your care.

What are the risk factors for myelofibrosis?

Understanding your risk factors can help put this condition in perspective, though it's important to remember that having risk factors doesn't mean you'll definitely develop myelofibrosis. Many people with risk factors never develop the condition, while others without obvious risk factors do.

Age is the most significant risk factor, with most cases occurring in people over 60 years old. However, myelofibrosis can occasionally affect younger adults and, in rare cases, even children. Men and women are affected equally, so gender doesn't influence your risk.

Here are the main factors that might increase your risk:

• Age over 60 years
• Previous diagnosis of polycythemia vera or essential thrombocythemia
• Past exposure to high-dose radiation therapy
• Previous treatment with certain chemotherapy drugs
• Exposure to industrial chemicals like benzene or toluene

Having another myeloproliferative neoplasm significantly increases your risk of developing secondary myelofibrosis. About 10-20% of people with polycythemia vera and 5-10% of those with essential thrombocythemia eventually develop myelofibrosis over many years.

Previous cancer treatment is a less common but important risk factor. If you received radiation therapy or certain chemotherapy drugs years ago, your risk might be slightly higher. However, the benefits of cancer treatment far outweigh this small increased risk, and most cancer survivors never develop myelofibrosis.

What are the possible complications of myelofibrosis?

While thinking about complications can feel overwhelming, understanding what might happen helps you and your medical team watch for early signs and take preventive steps when possible. Remember that many people with myelofibrosis live for years without experiencing serious complications.

The most common complications relate to your blood counts becoming too low or too high. Severe anemia can develop when your bone marrow can't produce enough red blood cells, leading to extreme fatigue and shortness of breath that interferes with daily activities.

Here are the complications that doctors monitor for:

• Severe anemia requiring blood transfusions
• Dangerously low platelet counts leading to serious bleeding
• Increased infection risk from low white blood cell counts
• Massive spleen enlargement causing pain and digestive problems
• Portal hypertension affecting blood flow through your liver
• Blood clots in unusual locations
• Transformation to acute leukemia

Spleen-related complications can significantly impact your quality of life. As your spleen enlarges, it might press against your stomach, making you feel full quickly and leading to unintentional weight loss. In severe cases, the enlarged spleen can cause pain and require treatment.

One of the more serious but less common complications is transformation to acute leukemia, which happens in about 10-20% of people with myelofibrosis over many years. While this sounds frightening, your doctor will monitor your blood counts regularly and watch for early warning signs. Most people with myelofibrosis don't experience this complication.

How is myelofibrosis diagnosed?

Diagnosing myelofibrosis involves several tests that help your doctor understand what's happening in your bone marrow and blood. The process might seem extensive, but each test provides important information that guides your treatment plan.

Your doctor will start with a complete blood count, which measures the different types of blood cells in your system. People with myelofibrosis often have abnormal blood counts, such as too few red blood cells, unusual white blood cell counts, or platelet levels that are either too high or too low.

A bone marrow biopsy is the most definitive test for myelofibrosis. While this might sound uncomfortable, your doctor will use numbing medication to minimize discomfort. They'll take a small sample of bone marrow, usually from your hip bone, to examine under a microscope for scarring and abnormal cells.

Genetic testing on your blood or bone marrow sample can identify specific mutations like JAK2, CALR, or MPL. Finding these genetic changes helps confirm the diagnosis and can influence treatment decisions. Your doctor might also order imaging tests like an ultrasound or CT scan to check the size of your spleen and liver.

The entire diagnostic process usually takes a few weeks from your first blood test to getting final results. Your medical team will explain each step and help you understand what the results mean for your specific situation.

What is the treatment for myelofibrosis?

Treatment for myelofibrosis focuses on managing your symptoms and preventing complications rather than curing the condition in most cases. Your doctor will create a personalized plan based on your symptoms, blood counts, age, and overall health.

If you have mild symptoms and stable blood counts, your doctor might recommend a "watch and wait" approach with regular monitoring. This doesn't mean ignoring the condition, but rather avoiding unnecessary treatments when you're feeling well and your blood counts are manageable.

For people with symptoms, several treatment options can help you feel better:

• JAK inhibitors to reduce spleen size and improve symptoms
• Blood transfusions for severe anemia
• Medications to stimulate red blood cell production
• Treatments to manage enlarged spleen
• Supportive care for symptoms like fatigue and pain
• Stem cell transplant for eligible younger patients

JAK inhibitors like ruxolitinib can significantly reduce spleen size and improve symptoms like fatigue, night sweats, and early satiety. These medications work by blocking the abnormal signals that cause inflammation and scarring in your bone marrow.

For younger, healthier patients, a stem cell transplant might offer the possibility of a cure. This involves replacing your diseased bone marrow with healthy stem cells from a donor. However, this treatment has significant risks and isn't appropriate for everyone, especially older adults or those with other health conditions.

How to manage myelofibrosis at home?

Managing myelofibrosis at home involves taking care of your overall health while working with your medical team. Small daily choices can make a meaningful difference in how you feel and help prevent complications.

Focus on eating nutritious foods even when your appetite is poor. Since you might feel full quickly, try eating smaller, more frequent meals throughout the day. Include protein-rich foods like lean meats, fish, eggs, or beans to help maintain your strength and support your immune system.

Stay as active as possible within your energy limits. Gentle exercise like walking, swimming, or yoga can help combat fatigue and maintain your strength. Listen to your body and rest when you need to, but try to avoid becoming completely sedentary unless your doctor advises otherwise.

Protect yourself from infections by washing your hands frequently and avoiding crowded places during flu season. Get recommended vaccinations, but check with your doctor first since some vaccines might not be appropriate depending on your treatment. Pay attention to cuts and scrapes, keeping them clean and covered until they heal.

Manage your energy throughout the day by prioritizing important activities and asking for help when you need it. Many people find it helpful to tackle demanding tasks when they feel most energetic, often in the morning. Don't hesitate to modify your routine or delegate responsibilities to family members or friends.

How should you prepare for your doctor appointment?

Preparing for your doctor appointments can help you get the most out of your visits and ensure you don't forget important questions or concerns. A little preparation can make these appointments feel more productive and less overwhelming.

Keep a symptom diary between appointments, noting your energy levels, any new symptoms, and how you're responding to treatments. Include details about your appetite, sleep quality, and any activities that have become difficult. This information helps your doctor understand how the condition is affecting your daily life.

Write down your questions before the appointment so you don't forget them during the visit. Common questions might include asking about your latest blood test results, discussing any new symptoms, or understanding what to expect in the coming months. Don't worry about asking too many questions – your medical team wants to help you understand your condition.

Bring a complete list of all medications, supplements, and vitamins you're taking, including the doses and how often you take them. This helps prevent drug interactions and ensures your treatments work together effectively. Consider bringing a family member or friend to help you remember important information discussed during the appointment.

Prepare for blood tests by staying hydrated and wearing a shirt with sleeves that can be easily rolled up. If you tend to get nervous about needles, let your medical team know – they can help make the experience more comfortable for you.

What's the key takeaway about myelofibrosis?

Myelofibrosis is a serious condition, but it's important to remember that many people live with it for years while maintaining a good quality of life. While it can't be cured in most cases, effective treatments can help manage symptoms and prevent complications.

Your prognosis depends on many factors including your age, overall health, specific genetic changes, and how well you respond to treatment. Some people have a slowly progressing form that requires minimal treatment, while others need more intensive management. Your medical team will help you understand what to expect based on your individual situation.

The most important thing you can do is maintain open communication with your healthcare team and follow up regularly even when you're feeling well. Early detection and management of complications can make a significant difference in your long-term outlook.

Remember that research into myelofibrosis is ongoing, with new treatments being developed and tested regularly. Clinical trials might offer access to promising new therapies, and your doctor can help you understand whether any research studies might be appropriate for your situation.