Myelofibrosis (MF) symptoms and diagnosis
According to recent research, eight out of ten people (80%) diagnosed with MF had symptoms which led them to visit their GP. In most cases, for the remaining two out of ten people (20%), MF was picked up by chance, after a routine blood test.
The symptoms of MF are caused by your bone marrow (the spongy material inside some of your bones) not making enough blood cells.
- A lack of red blood cells may lead to breathlessness, fatigue, chest pains, headaches and tinnitus.
- A lack of platelets might mean you bruise easily or have unusual bleeding.
- A lack of white blood cells might mean you get more infections than normal.
You may also have pain in your abdomen due to the enlargement of your liver and spleen.
Other symptoms may include night sweats, fevers and weight loss.
Thrombosis (blood clots)
People with MF are at an increased risk of thrombosis (blood clots). Thrombosis is a serious condition and may occur in blood vessels in these organs:
- your brain: causing a stroke or mini-stroke or TIA (transient ischaemic attack)
- your eyes: causing blurred vision or loss of vision
- your heart: causing a heart attack.
Blood clots can also form in the veins of your legs. This is known as deep vein thrombosis or DVT. Clots can also form in the vessels in your abdomen (stomach area). If a clot dislodges and travels to the lungs, it may cause a pulmonary embolism. This usually results in low oxygen levels, sharp chest pain and shortness of breath.
You’ll have regular blood tests so your healthcare team can monitor your condition and spot any early signs of a blood clot.
Get urgent medical help if you have any of these symptoms:
- sudden chest pain or shortness of breath
- swelling and/or pain in your calf on one side
- slurred or abnormal speech, weakness in your arms or legs, or drooping on one side of your face
- swelling in your abdomen or jaundice (your skin turning a yellow colour)
- sudden loss of vision in one eye.
Tests to diagnose MF
Most people are diagnosed with MF following a visit to their GP with symptoms, or through a routine blood test. You would then have a set of tests to confirm the exact diagnosis of MF.
If your doctor thinks you might have MF, the first test will be a simple blood test to measure the numbers of the various types of blood cells. This is called a full blood count. Your blood cells will also be examined under a microscope in a laboratory: red blood cells with a distinctive, abnormal shape can suggest to your doctor that you might have MF.
Your doctor will also examine you to check whether you have an enlarged spleen.
DNA from one of your blood samples will be used to test for genetic faults to the JAK2, CALR and MPL genes. Around 50% of MF patients have a fault in the JAK2 gene and 30% have a fault in the CALR gene. However, some people won’t have one of these faults, so a diagnosis can’t always be confirmed after these tests.
Some people need tests on their bone marrow before their doctors can make a diagnosis. This helps to rule out any other bone marrow problems and lets doctors assess your fibrous tissue.
During the test, a small amount of bone marrow is taken using a needle from the hip bone. You don’t need to stay overnight in hospital for this; you can have it as an outpatient using local anaesthetic or mild sedation. It’s usually quite quick but will be uncomfortable while the sample’s being taken from the marrow; you can take painkillers if you need to. Your doctors will then look at the bone marrow sample under a microscope to assess it for any disease which might be in it.
Find out more about bone marrow biopsies.
As a patient with MF will have a large amount of fibrous tissue in their bone marrow, it may be hard to get a sample using a needle and syringe – this is known as a ‘dry tap’. This means you may need a trephine biopsy.
This is where a ‘core’ of bone marrow from the hip bone is taken, under local anaesthetic or mild sedation. This provides information about the structure of your bone marrow and the number and distribution of the different blood cell types – and cancer cells, if present.
Once a diagnosis has been confirmed, your doctor will do tests to find out how much the MF has progressed. There are two stages of MF:
At this stage:
- Your bone marrow will be overactive with increased numbers of platelet-producing stem cells (megakaryocytes).
- There will be a slight increase of fibrin in your blood (the protein that forms when the blood clots, and disrupts the flow of blood through the fibrous network).
- Blood counts (the number of cells in your blood) will be very high at this stage. Your doctor will conduct detailed tests to distinguish MF from leukaemia. Your doctor will explain these tests to you if you need to have them.
At this stage:
- There is an increase in the amount of fibrosis in your bone marrow.
- There is a decrease in the amount of normal blood-forming tissue.
The structure of the bone marrow changes, which in turn leads to a reduction in the mature cells in your blood (red cells, platelets and/or white cells).
Acute myeloid leukaemia
In a some people, MF can progress to acute myeloid leukaemia (AML). Read more about AML.
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