Myeloproliferative Neoplasms (MPNs): Symptoms and Blood Test Diagnosis

• Polycythemia vera (PV) — affecting red blood cells and increasing their number. Red blood cells are the cells that carry oxygen among other vital functions for the body.
• Essential thrombocytopenia (ET) — affecting platelets and increasing their number. Platelets are the cells that function in clotting and controlling bleeding.
• Primary myelofibrosis (PMF) — causes abnormalities in various white blood cell types that present with increased production of these cells in the early stages but then proceed to decrease significantly as a result of fibrotic tissue forming in the bone marrow preventing cell production. This is considered the most aggressive type of myeloproliferative neoplasms. 

Diagnosing Myeloproliferative Neoplasms (MPNs)

• Take your medical history — ask about past illnesses, medications, risk factors, and family history.
• Do a physical examination — checking for signs of the disease.
• Conduct a myeloproliferative neoplasms blood test — MPN panel blood test
• Examining your bone marrow — this can be done through a solid or liquid biopsy aspiration from the bone marrow.
• Genetic testing — looking for gene mutations or protein alterations (can be assessed from the blood work or the biopsy sample).

Symptoms of myeloproliferative disorders

Polycythemia vera symptoms 

Since it causes an increase in red blood cells number, people who have polycythemia vera experience the following symptoms:

• Headaches
• Pressure or dull sensation on the left side under the ribs
• Problems with vision (dark spots, and double vision)
• Fatigue and tiredness
• Unexplained weight loss
• Dizziness and disorientation
• Flushed face 
• Skin itching 

Essential thrombocythemia  symptoms

Since it causes an increase in platelets number, people who have essential thrombocythemia experience the following symptoms:

• Headaches
• Numbness, tingling sensation, or burning in the extremities (hand and feet)
• Redness in the hands and feet
• Problems with hearing
• Problems with vision

Primary myelofibrosis symptoms

Since it causes abnormalities in white blood cells growth and fiber accumulation in the bone marrow, people who have essential thrombocythemia experience the following symptoms:

• Losing weight
• Feeling of a full stomach when eating (quicker than normal)
• Extreme fatigue
• Fever
• Night sweats
• Bruising and bleeding easily
• Pressure under the ribs on the left side
• Shortness of breath
• Petechiae (red spots under the skin that forms after bleeding)

Polycythemia vera , essential thrombocythemia, and primary myelofibrosis generally don’t present with early signs and symptoms and can be accidentally found on routine checkups. Additionally, multiple other conditions can cause these same symptoms making it hard to pinpoint a diagnosis if you’re not looking for it. 

Moreover, it’s important to note that not everyone that has myeloproliferative disorder will feel these symptoms. While some patients will be impacted by these symptoms and experience reduced quality of life, others may have no symptoms at all.

What is an MPN panel blood test?

A myeloproliferative neoplasms (MPNs) panel blood test is a group of tests that determines the shape, size, and number of blood cells (red blood cells, white blood cells, and platelets) as well as checks for the presence of biomarkers —certain molecules, proteins, or hormones— that are specific for myeloproliferative disorders.

A blood sample will be taken from you and examined to confirm a diagnosis of myeloproliferative neoplasm disorder. An MPN panel blood test consists of the following:

Complete Blood cell count (CBC) and Differential. Determines the number of blood cells and assesses the following:

• Red blood cells number (RBCs)
• Platelets number
• The number and type of white blood cells (WBCs)
• The amount of hemoglobin (a type of protein that carries oxygen in the blood)
• Hematocrit percentage (the portion of red blood cells in your blood)
• The dispersal and size of your red blood cells and platelets

Patients with myeloproliferative neoplasms will have abnormal levels of these cells according to the subtype. 

Dr. Ghaith Abu-Zeinah, an instructor in Medicine at Weill Cornell Medical College and an Assistant Attending Physician at the New York-Presbyterian Hospital, explains “the overproduction of blood cells,  can reflect in a routine blood count that a patient has”. 

Peripheral Blood Smear. A type of test that determines the appearance of blood cells under the microscope. In this test, your blood will be checked for abnormal-looking blood cells and the presence of a type of immature cells known as blast cells. 

Normally, a blast cell is only found in your bone marrow and not your peripheral blood. Patients with primary myelofibrosis (MPF) will have blast cells in their blood and their red blood cells are found in the shape of a teardrop.

Blood Chemistry Profile. This type of test measures the concentration of different biomarkers in the blood. These can differ according to each type, but these include substances like electrolytes, proteins, hormones, carbohydrates, fats, enzymes, iron, ferritin, or erythropoietin.  

Erythropoietin is a type of hormone that’s responsible for the formation of red blood cells, it’s used to identify polycythemia vera. Patients who have polycythemia vera will have abnormally low levels of erythropoietin because their bodies have an excess of red blood cells and don’t need more.

Genetic Testing. This type of test identifies any abnormalities in the genes, proteins, or chromosomes of a patient. These can be done through the following:

• Karyotyping (cytogenetic analysis) — investigating a person’s chromosome and looking for any anomalies
• Polymerase chain reaction (PCR) — a type of sensitive test that identifies and quantifies gene mutations
• DNA sequencing — Determining any genetic alterations that happened in a person’s DNA by comparing samples from the cancer cell and the normal healthy cell

According to the Leukemia and Lymphoma Society, “approximately 90% of patients with MF have a mutation of the JAK2, MPL, or CALR gene. The approximate frequencies of these mutations are JAK2 mutation — 60%, CALR mutation — 20-35%, MPL mutation — 5-8%”

In summary, patients with polycythemia vera will present with the following diagnostic results:

• Increased red blood cells counts
• Increased hemoglobin levels
• Increased hematocrit levels
• Increased white blood cells levels
• Increased number of platelets
• Decreased levels of erythropoietin
• JAK2 gene mutations

Patients with essential thrombocythemia will present with the following diagnostic results:

• Elevated platelets count
• JAK2 gene mutations (in 60% of ET patients)
• MPL mutations (in 33% of ET patients)

Patients with primary myelofibrosis will present with the following diagnostic results:

• Abnormal shape for red blood cells (tear-drop shape instead of concave)
• Increased white blood cells and platelets (only in the early stages of the disease)
• Lower white blood cells and platelets (in the later stages of the disease)
• Presence of blast cells in the peripheral blood rather than the bone marrow where it’s normally found
• JAK2 gene mutation (50-60% of MPF patients)

The Bottom Line

Myeloproliferative neoplasms (MPNs) blood tests are a very important diagnostic tool. Aside from identifying the subtype of myeloproliferative neoplasms a patient may have, it also provides a way for doctors to monitor and evaluate their patient’s treatment responses which can go a long way in managing the condition and choosing the best treatment strategy. 

For example. “Patients with polycythemia might need to have blood draws every month to make sure that their hemoglobin isn’t too high to prevent them from getting strokes,” Dr. Phillips explained. 

Questions to Ask your Doctor

• What type of myeloproliferative neoplasm do I have? 

• What tests need to be performed to diagnose my condition?

• What treatment options are available for me?
• How do I know if my treatment is working?
• What should I do if my symptoms are becoming worse?

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