“This chronic disease is burdensome and progressive, and in a fraction of patients, can evolve into an acute myeloid leukemia that is uniformly fatal,” says John Mascarenhas, MD, professor of medicine, hematology, and medical oncology at Mount Sinai in New York City.
Types of Myelofibrosis
Frequent infections (due to low white blood cell counts)Easy bleeding or bruising (due to low platelet counts)Fatigue, shortness of breath, weakness, or paleness (due to low red blood cell counts)A feeling of fullness, abdominal pain, weight loss, or decreased appetite (due to an enlarged spleen or liver)Portal hypertension (a spike in blood pressure in the vein that carries blood from the spleen to the liver)FeverNight sweatsItchy skinJoint or bone painWeight lossBlood clotsExtramedullary hematopoiesis (an abnormal growth of blood-forming cells outside of the bone marrow)
Risk Factors for Myelofibrosis
“We are still working hard to understand exactly why people develop myelofibrosis,” Dr. Mascarenhas says.
Having another blood cell disorder, such as polycythemia vera (PV) or essential thrombocythemia (ET)Exposure to certain industrial chemicals, such as toluene or benzeneExposure to ionizing radiation, such as the radiation from X-rays, computerized tomography (CT) scans, positron emission tomography (PET) scans, and radon, a natural radioactive gas found in some homes
Scientists are now looking for ways to better recognize who is at risk for developing myelofibrosis, Mascarenhas says. For instance, researchers are studying whether identifying people with a certain mutation — called clonal hematopoiesis of indeterminate potential (CHIP) — has the potential to halt the disease from developing or allow for earlier intervention. “However, this research and potential application is still in its infancy,” he explains. Sometimes it’s tricky to differentiate myelofibrosis from other related blood cancers, such as ET, PV, and chronic myelogenous leukemia. “It is imperative that one clearly distinguishes between these diagnoses as the prognoses and therapeutic approaches can vary widely,” says Mascarenhas.
Physical Exam This is done to check your vital signs (body temperature, pulse rate, respiration rate, and blood pressure) and examine your lymph nodes, spleen, and abdomen.Blood Tests These can reveal if you have an abnormal level of platelets, red blood cells, or white blood cells. Certain blood tests also check for elevated levels of uric acid, lactic dehydrogenase, and bilirubin, which may indicate myelofibrosis.Imaging Tests X-rays and magnetic resonance imaging (MRI) may be performed to help doctors learn more about your condition. Additionally, doctors may order an ultrasound to check if your spleen is enlarged.Bone Marrow Biopsy This involves using a small needle to remove a sample of bone marrow. Examining the sample under a microscope helps rule out or confirm a myelofibrosis diagnosis.Gene Mutation Tests Analyzing your blood or bone marrow for gene mutations, such as JAK2, MPL, or CALR, can assist in tailoring treatment options and assessing your prognosis.
Which Types of Experts Diagnose and Treat Myelofibrosis?
Because myelofibrosis is rare, you may want to find a doctor who has experience with this specific type of blood cancer. “It is really important to seek consultation with an expert who has a focus in this area of malignant hematology. Ideally, this person can work with your local hematologist to help provide a personalized treatment approach with the most up-to-date and cutting-edge therapies,” says Mascarenhas. Newer therapies have extended survival odds for many patients, he adds. “Myelofibrosis is very heterogenous [diverse],” explains Mesa. “Plans need to be quite individualized because not everybody is the same.” For example, a small subset of people with myelofibrosis who are low risk and minimally affected by the disease may be candidates for the simplest treatment of all: observation. This means the doctor will watch the cancer carefully, but the patient isn’t on any active treatment.
Medications for Myelofibrosis
Ruxolitinib (Jakafi)Fedratinib (Inrebic)Pacritinib (Vonjo)
Medications for Anemia
ChemotherapySteroidsAndrogens (synthetic hormones)Immunomodulators, such as thalidomide or lenalidomideInterferon (specific proteins that help the body fight infections)A blood transfusion
Treatments for an Enlarged Spleen
A JAK inhibitorChemotherapyRadiationSurgery to remove the spleenInterferon
Stem Cell Transplant for Myelofibrosis
Because of these risks, Mesa says stem cell transplants are performed in less than 10 percent of patients with myelofibrosis. “A stem cell transplant can, even in the best circumstances, have a 10 to 15 percent chance of fatal complications,” Mesa says. “To put that in perspective, open-heart surgery carries only a 1 percent risk.”
Clinical Trials
Participating in a clinical trial may be an option for some people with myelofibrosis. These studies might allow you to receive a therapy that isn’t yet available to the public. Mesa says there are several drugs being studied in clinical trials that could be beneficial for people with myelofibrosis. “Be hopeful. There are a lot of new medicines in development, a lot of things that are being discovered, and a lot of people out there rooting for you even though this is a rare cancer,” he says.
Polycythemia vera (PV)Essential thrombocythemia (ET)Acute myeloid leukemiaChronic leukemia
Leukemia & Lymphoma Society MPN Research FoundationCleveland Clinic: MyelofibrosisNational Organization for Rare Disorders (NORD)CancerCare
