Most people with myelofibrosis (MF) experience some general symptoms that affect the whole body or physical symptoms that may interfere with their daily quality of life. While these symptoms can vary greatly among patients, the following are commonly associated with the disease:
Shortness of breath with exertion
Headaches with or without visual “disturbances”
Excessive night sweats
Abdominal bloating and discomfort
Enlarged spleen causing pain under the left ribs, reducing appetite, and causing fullness immediately upon eating
Tingling or numbness in extremities (i.e., hands, feet, arms, legs)
Signs of Myeloproliferative Disorder
MF is a rare blood cancer that is part of an umbrella group known as myeloproliferative neoplasms (MPNs). It can be diagnosed as “primary” MF, which means there is no previous known progression from a different MPN, or “secondary” MF, meaning it has transformed from essential thrombocythemia (ET), or polycythemia vera (PV).
Many people live with an MPN for years with no symptoms. Because a diagnosis of an MPN can come after the disease has been present for a long time, it can be difficult to qualify exactly how long an ET or PV patient may have lived with the disease before it became MF.
According to Gabriela Hobbs, MD, an MPN specialist at Mass General Hospital in Boston, about 15-20% of patients with PV are likely to progress to MF over the course of 10 years. It is less common in ET, with progression occurring in only about 5-10% of patients.
MF can only be confirmed through a bone marrow biopsy. This test removes bone marrow (the soft, spongy material inside the bones) and several tests are done to determine if its appearance is consistent with MF. In addition, specialized genetic tests are done. The findings will help determine the risk for further disease progression – low, intermediate, or high.
What specifically describes MF is the presence of fibrosis, or scarring, that has developed in the marrow. The major concern with fibrosis is that it gets in the way of healthy blood cell production, as well as its normal function and ability to thrive.
Whether it is primary or secondary MF, changes in blood counts may come along with symptoms that have been present for some time.
Common Markers of Myelofibrosis
Some indicators of MF will be found through comprehensive blood tests. Red cells are most often low with MF, which causes anemia and the associated fatigue. It is also common for other blood cells to be affected, both white cells, which help fight infection, as well as platelets, which control your blood’s ability to clot.
Other markers found in the blood will be looked at for potential signs of MF. For example, the level of lactate dehydrogenase, a marker of cell and tissue damage in the body, can be checked since elevated numbers may be associated with blood cancers and other conditions.
Symptoms of myelofibrosis can change significantly over time. Therefore, it is important for a patient (or care partner) to track them and keep their medical team aware of any differences in how you feel or if the severity of symptoms is interfering with your daily life more than it previously did. This information can help better manage symptoms if they become more severe and may also be considered as the care team continues to evaluate potential disease progression.