Get a Free Consultation
Myelofibrosis and Myelodysplastic Syndrome
Blog

Myelofibrosis and Myelodysplastic Syndrome

Myelofibrosis and Myelodysplastic Syndrome, like low blood counts can be treated with blood transfusions, where red blood cells or platelets are replaced.  The Myelodysplastic Syndrome (MDS) is a term for a group of frequent malignant stem cell diseases, mainly encountered in older individuals. People with MDS have low numbers of red blood cells (anemia), and the cells may have a mutation in their DNA. Overall, MDS is relatively uncommon, with an incidence of between four to five people per a population of 100. However, in patients over the age of 60, this increases to around 20 to 50 incidences per one hundred.

The World Health Organization divides myelodysplastic syndromes into subtypes based on the kind of blood cells — red cells, white cells and platelets — involved. In about 1 in 3 patients, MDS can progress to a quickly growing cancer of bone marrow cells called acute myeloid leukemia.

Myelofibrosis (MF) is rare disorder in which abnormal blood cells and fibers build up in the bone marrow. Myelofibrosis is part of a group of diseases called myeloproliferative disorders/neoplasms (MPN), and are characterized for abnormal cells which sometimes harbor mutations in the JAK pathway. The symptoms associated with primary myelofibrosis differ and are associated to a build of abnormal blood cells and fibers in the bone marrow. Affected people may stay symptom-free for many years, and then develop the florid disease. Myelofibrosis can affect anyone; however, it is most frequently diagnosed in people older than 50.

Primary Myelofibrosis and Secondary Myelofibrosis

Primary myelofibrosis (also known as chronic idiopathic myelofibrosis) is myelofibrosis that has been diagnosed without any prior MPN’s, while secondary myelofibrosis is myelofibrosis that has developed after the patient has first been diagnosed with essential thrombocythemia (ET) or Polycythemia Vera (VR). This secondary myelofibrosis can also be known as post-polycythemia vera (PPV) or post-essential thrombocythemia (PET-MF).

Primary Myelofibrosis and Secondary Myelofibrosis

Primary myelofibrosis (also known as chronic idiopathic myelofibrosis) is myelofibrosis that has been diagnosed without any prior MPN’s, while secondary myelofibrosis is myelofibrosis that has developed after the patient has first been diagnosed with essential thrombocythemia (ET) or Polycythemia Vera (VR). This secondary myelofibrosis can also be known as post-polycythemia vera (PPV) or post-essential thrombocythemia (PET-MF).

Myelofibrosis and Myelodysplastic Syndrome Symptoms

Symptoms of myelofibrosis can include fatigue, shortness of breath, belly discomfort, pain beneath the ribs, feeling full, muscle and bone pain, itching, and night sweats. Most patients with myelofibrosis have an enlarged spleen, and in some cases, an enlarged liver.

In primary myelofibrosis there are often low ranges of circulating red blood cells, a situation known as anemia. White blood cells and platelets are additionally misshapen and immature. Symptoms of anemia include fatigue, pallor, and shortness of breath.

Like Myelofibrosis, the symptoms for Myelodysplastic syndrome include fatigue, shortness of breath, skin pallor due to anemia and skin bruising due to low platelets.

Clinical Trial Search Tool

More than 15,000 clinical trials are currently recruiting patients of all cancer types and stages.

Find a cancer Trial

Myelofibrosis Risk Factors

Advanced age is the main risk factor for myelofibrosis, most people diagnosed with it are over the age of 50. About 6% are under the age of 40. Other risk factors include exposure to radiation, chemicals, or other blood disorders such as essential thrombocythemia or polycythemia vera.

There does not appear to be a gender bias in myelofibrosis, and men and women are equally at risk of developing the condition. Most cases of MF occur as a result of a genetic mutation in the bone marrow.

When myelofibrosis occurs on its own, it is called major myelofibrosis. If it occurs as a result of a separate disease, it is known as secondary myelofibrosis (for example, scar tissue in the bone marrow as a complication of an autoimmune disease).

Myelofibrosis Causes

  • Recent research shows that about 50-60% of people with MF have a mutation in a protein called JAK2, a protein that regulates blood cell production.
  • 30% of patients have a mutation in a gene called calreticulin called CALR, 5-10% of patients have mutations in the platelet hormone receptor called MPL.
  • Patients with MF have other mutations in many genes, but these are also seen in blood diseases. Current research focuses on whether different mutation patterns may be important for the outcome or prognosis of the disease, as well as for response to treatment.
  • Patients with MF are not born with these mutations, but get them throughout their lives. It is important to note that MF is rarely inherited and is not passed from parent to child, but some families seem to develop the disease more easily than others.

Myeloproliferative Neoplasms and Leukemia

Myeloproliferative neoplasms are a group of disorders resulting from poorly formed or dysfunctional blood cells. These neoplasms are considered to be cancer, due to the abnormal function of cells. Leukemia, a blood cancer which results in a higher level of white blood cells can be considered a myeloproliferative neoplasm. A few types of leukemia include:

  • Chronic neutrophilic leukemia: a rare type of leukemia where neutrophils are overproduced (a type of white blood cell)
  • Chronic eosinophilic leukemia: a form of leukemia where too many eosinphils (a type of white blood cell) are found in the bone marrow, blood and other tissues
  • Chronic myelogenous leukemia: an uncommon type of leukemia that occurs in the bone marrow, causing an overproduction of white blood cells.

Myeloproliferative Neoplasms and Leukemia

Myeloproliferative neoplasms are a group of disorders resulting from poorly formed or dysfunctional blood cells. These neoplasms are considered to be cancer, due to the abnormal function of cells. Leukemia, a blood cancer which results in a higher level of white blood cells can be considered a myeloproliferative neoplasm. A few types of leukemia include:

  • Chronic neutrophilic leukemia: a rare type of leukemia where neutrophils are overproduced (a type of white blood cell)
  • Chronic eosinophilic leukemia: a form of leukemia where too many eosinphils (a type of white blood cell) are found in the bone marrow, blood and other tissues
  • Chronic myelogenous leukemia: an uncommon type of leukemia that occurs in the bone marrow, causing an overproduction of white blood cells.

Myelofibrosis and Myelodysplastic Syndrome Treatments

Myelofibrosis symptoms and Myelodysplastic syndrome low blood counts can be treated with blood transfusions, where red blood cells or platelets are replaced. Active treatment with drugs called hypomethylating agents are used in MDS. Studies have shown that lenalidomide is extremely efficient in treating peripheral blood and bone marrow abnormalities in certain people with MDS (a condition called MDS with 5q minus). Another treatment for Myelofibrosis and Myelodysplastic Syndrome is a bone marrow transplant.

The use of JAK inhibitors, leading to regulatory approval of ruxolitinib, represented a major therapeutic advance in myelofibrosis (MF). Some individuals with major myelofibrosis have been treated with allogeneic stem cell transplantation. In allogeneic stem cell transplantation, stem cells are donated from another particular person, often from a closely matched family member. There are current studies analyzing the best treatments after MF progresses on Ruxolitinib. Massive Bio uses artificial intelligence and patient support to match to novel treatments and clinical trials, including for Myelodysplastic Syndrome and Myelofibrosis Treatments.

Your Guide To Managing a Myelofibrosis Diagnosis

We know that a myelofibrosis diagnosis can be difficult, and parsing through all the treatment options can be overwhelming. If you’ve recently been diagnosed or relapsed with myelofibrosis, you might be wondering what the right next step is. We don’t want you to go through this alone, so we’ve created an actionable guide with 7 steps you can take to navigate a myelofibrosis diagnosis. Fill out the form below to get your guide today.

4 Comments

  • Julia says:

    I had been diagnosed with myelofibrosis. My mom also had it in the past. Is myelofibrosis hereditary? I am concerned about my children. Is there a test that I can have it

  • Cathy K says:

    My husband’s 95 y.o. maternal aunt’s cause of death listed as MDS, though never confirmed with bone biopsy.
    Yesterday, his 65 y.o. sister rec’d bone biopsy due to suspected MF & still awaiting results.
    Genetic connection? Is there a genetic marker test her siblings (my husband) & their cousins could take?
    BTW, they are all Japanese Americans.
    Thank you.

Leave a Reply

Your email address will not be published. Required fields are marked *

Get a Free Consultation

Our specialized team will contact you within 24 hours.

    Your personal data is fully confidential and 100% secure