What are other Names for this Condition? (Also Known as/Synonyms)

• MPD (Myeloproliferative Disorder)
• MPN (Myeloproliferative Neoplasm)
• Myeloproliferative Disorder (MPD)

What is Myeloproliferative Neoplasms? (Definition/Background Information)

• Myeloproliferative Neoplasms (MPNs) are described as bone marrow and blood neoplasms, occurring due to bone marrow abnormalities causing increased production of red blood cells, white blood cells, or platelets. MPNs were earlier known as Myeloproliferative Disorders (MPDs)
• Myeloproliferative Neoplasms may include essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF). These disorders can result in the thickening of the blood, increased risk of blood clotting, and potential transformation into acute leukemia. They are also referred to as forms of blood cancers that include leukemia, lymphoma, and myeloma
• The specific cause of Myeloproliferative Neoplasms is often unknown, but some genetic mutations, such as JAK2, CALR, or MPL mutations, are commonly associated with these disorders. Family history may also contribute to the risk. MPNs are more commonly diagnosed in adults, typically around 60 years
• In general, the signs and symptoms of Myeloproliferative Neoplasms may include fatigue and weakness, enlarged spleen and liver, easy bruising and bleeding, night sweats, bone pain or discomfort, and blood clotting. However, these may depend on the type and severity of the condition
• Diagnosis involves a combination of blood tests, bone marrow biopsy, and genetic testing to identify specific mutations associated with Myeloproliferative Neoplasms. In severe cases, the complications may include abnormal blood clotting leading to thrombosis, bleeding episodes, and progression to malignancy
• The treatment of Myeloproliferative Neoplasms aims to manage symptoms, reduce the risk of complications, and control the overproduction of blood cells. Therapies may include medications, blood thinners, and, in some cases, stem cell transplantation. Regular medical follow-up is crucial for managing MPNs effectively
• The prognosis for Myeloproliferative Neoplasms varies depending on the specific type, the presence of complications, and the response to treatment. While some individuals may have a relatively normal life expectancy, others may experience disease progression and complications that affect the overall prognosis

According to the 2016 World Health Organization (WHO) classification, the following Myeloproliferative Neoplasms are identified:

• Chronic myeloid leukemia (BCR/ABL1+)
• Chronic neutrophilic leukemia
• Chronic eosinophilic leukemia, not otherwise specified (NOS)
• Essential thrombocythemia
• Primary myelofibrosis (PMF)
  • PMF, prefibrotic early stage
  • PMF, overt fibrotic stage
• Polycythemia vera
• Myeloproliferative Neoplasm, unclassifiable (MPN-u)

Who gets Myeloproliferative Neoplasms? (Age and Sex Distribution)

• Myeloproliferative Neoplasms may occur in both children and adults, but most cases are observed in adults over the age of 50-60 years
• Both males and females are affected
• Worldwide, individuals of all racial and ethnic groups may develop the condition

What are the Risk Factors for Myeloproliferative Neoplasms? (Predisposing Factors)

The risk factors for Myeloproliferative Neoplasms may broadly include the following:

• Advancing age
• Positive family history of the condition
• Overexposure to radiation
• Exposure to chemicals such as benzene or toluene
• Genetic factors including:
  • Presence of the Philadelphia chromosome (a balanced translocation between chromosomes 9 and 22) leading to chronic myelogenous leukemia (CML)
  • Different rates of expression of a JAK2 protein mutation leading to polycythemia vera (PCV), idiopathic myelofibrosis, and essential thrombocytosis

It is important to note that having a risk factor does not mean one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Myeloproliferative Neoplasms? (Etiology)

The cause of the formation of Myeloproliferative Neoplasms (MPNs) is presently not well understood.

• MPNs are a group of disorders characterized by the overproduction of mature blood cells in the bone marrow
• These disorders involve abnormal proliferation of myeloid cells, including red blood cells, white blood cells, and platelets
• It may develop due to a combination of genetic, hormonal, environmental, and other factors

What are the Signs and Symptoms of Myeloproliferative Neoplasms?

The signs and symptoms of Myeloproliferative Neoplasms (MPNs) may depend on the type and severity of the condition. It may vary widely from one individual to another. In general, the signs and symptoms of MPNs may include:

• Headache
• Fever and night sweats
• Itchiness
• Fatigue
• Shortness of breath
• Blurry vision
• Abnormal bleeding
• Anemia
• Weight loss
• Dizziness
• Hypertension or increased blood pressure

How is Myeloproliferative Neoplasms Diagnosed?

The following diagnostic tests and procedures may aid in detecting Myeloproliferative Neoplasms (MPNs):

• Physical examination and evaluation of medical history
• Complete blood count (CBC) test that includes RBC, WBC, and platelet count
• Peripheral blood smear tests
• Protein electrophoresis
• Liver function blood test (LFT)
• Lactate dehydrogenase (LDH) blood test
• Chemistry panel
• Bone marrow aspirate and biopsy to detect abnormal distribution of cells
• Cytogenetic analysis
• Flow cytometry
• Immunohistochemistry and immunophenotyping
• Fluorescence in situ hybridization (FISH) studies
• Polymerase chain reaction (PCR)
• Radiological imaging studies, as needed
• Molecular genetic testing, if necessary

The WHO has recommended specific diagnostic criteria for each subtype of MPN.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Myeloproliferative Neoplasms?

The complications of Myeloproliferative Neoplasms may depend on the specific type of MDS. These may include:

• Heart-related abnormalities such as heart attack
• Formation of blood clots resulting in severe complications
• Enlargement of spleen
• Severe internal hemorrhage
• Liver and kidney failure
• Aggressive malignancies and metastasis to other body regions
• Treatment-related complications

How is Myeloproliferative Neoplasms Treated?

Myeloproliferative Neoplasm (MPN) treatment is based on the subtype of MPN and the age and health status of the individual. The treatment options may broadly include:

• Symptomatic management
• Administration of medication
• Phlebotomy
• Chemotherapy and radiation therapy
• Surgical removal of the spleen (splenectomy)
• Bone marrow transplant
• Stem cell transplant
• Clinical trials

Periodic monitoring or follow-up of the condition with the healthcare provider is essential and recommended.

How can Myeloproliferative Neoplasms be Prevented?

No specific prevention or guidelines are available for Myeloproliferative Neoplasms (MPNs), as their development is often linked to genetic mutations. However, an individual’s risk of developing the condition may be decreased by considering the following:

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
• Limiting exposure to the following:
  • Radiation
  • Industrial chemicals
• Individuals, especially elderly adults, are urged to diagnose and treat any health conditions early and adequately

Regular medical check-ups and monitoring for symptoms can aid in early detection.

What is the Prognosis of Myeloproliferative Neoplasms? (Outcomes/Resolutions)

The prognosis of individuals with Myeloproliferative Neoplasms (MPNS) depends on a set of factors that include:

• Specific MPN subtype
• Severity of the condition
• Age and overall health status of the individual
• Response to therapy
• Presence or absence of genetic mutations
• Rate of progression of the condition

Early diagnosis and prompt treatment of the condition generally yield better outcomes than late and delayed treatment.

However, while MPNs are classified as malignancies, their behavior and prognosis can vary widely, with some individuals having a relatively indolent course while others may experience disease progression and complications.

Additional and Relevant Useful Information for Myeloproliferative Neoplasms:

The following DoveMed website links are useful resources for additional information:

https://www.dovemed.com/diseases-conditions/essential-thrombocythemia

https://www.dovemed.com/diseases-conditions/polycythemia-vera

https://www.dovemed.com/diseases-conditions/primary-myelofibrosis