Stephen Oh, MD, PhD

When we talk about how a typical patient with myelofibrosis [MF] presents, there are several common signs and symptoms. The most common is fatigue. Patients often notice that they're feeling more tired, and this may prompt the initial evaluation. This often leads to laboratory work where on a CBC [complete blood count] anemia is often found. Patients can have fatigue because of anemia. They can have fatigue even beyond the degree of anemia. Patients often have other symptoms as well. This can include night sweats, poor appetite, and weight loss. Patients with myelofibrosis frequently have enlarged spleens, and this can cause abdominal discomfort and early satiety, which is a sensation of filling up full quickly when you eat. This in conjunction with decreased appetite overall is what contributes to weight loss. Patients don't necessarily present at diagnosis with severe symptoms, but it's quite common to have at least some degree of these issues. This is what often prompts the initial evaluation.

As far as factors that may increase a person's risk of myelofibrosis, we know that with myelofibrosis, there are 2 categories. There is primary myelofibrosis where the disease develops de novo. But there's also a category of myelofibrosis that develops following a history of an antecedent myeloproliferative disease such as polycythemia vera [PV] or essential thrombocythemia [ET]. It's common for patients to initially be diagnosed with polycythemia vera or essential thrombocythemia. And then over time, their risk of developing myelofibrosis certainly is increased compared with those who don’t have these diseases. That is a very common underlying prior diagnosis that then leads to the development of myelofibrosis.

Otherwise, with patients who develop de novo primary myelofibrosis, we know that there are specific genetic changes that are the primary drivers of the disease development. But otherwise, we don't think of specific factors that are largely responsible for an increased risk, with the caveat that overall with patients with myeloproliferative diseases, we know that there is a slightly increased risk across family members on the order of 2- to 4-fold. While that risk is certainly increased, if a first degree relative, a brother or sister, or a mother or father should have one of these diseases, overall, the risk remains relatively low given that these diseases are not entirely common.

In terms of different types of myelofibrosis and the outcomes for each of these, we already talked a little about primary myelofibrosis, which can occur de novo. We talked about secondary MF, so following a history of polycythemia vera or central thrombocythemia. These 2 categories of myelofibrosis are a little bit distinct. In patients who have a history of PV or ET, as they transition to myelofibrosis, their counts may remain somewhat elevated as they get more into the myelofibrosis stage. Conversely, patients who are diagnosed with primary myelofibrosis may be more likely to have more significant cytopenias at diagnosis. And this ties into an evolving understanding of this category we now refer to as cytopenic myelofibrosis. These are patients who have more prominent cytopenias, oftentimes at diagnosis, in that category of primary myelofibrosis. They have more anemia, they may have more thrombocytopenia, and they therefore fit into this category of cytopenic MF. Whereas those patients who came from a history of PV or ET may be more in this category of proliferative MF, where their counts may remain high as they initially transition to that phase. There certainly is overlap in these different categories, but we are gaining more of an appreciation that there are some distinctions in these different types of MF.

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Stephen Oh, MD, PhD, explains the different types of myelofibrosis and describes the signs and symptoms.

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Myelofibrosis Types and Presentations