Diagnosing Polycythaemia Vera

Diagnosing a myeloproliferative neoplasm (MPN) can be challenging. There are often no symptoms in the early stages of the conditions, and even when there are symptoms such as fatigue, these may be mistaken for signs of other diseases.

Your doctor will use a combination of laboratory tests, which examine the blood and bone marrow, and physical examinations to diagnose MPNs.

Here’s what to expect:

Physical exam: Your body is checked for anything else that seems unusual. Your doctor will also compile a history of your health, any relevant lifestyle information, past illnesses and treatments. Complete (or full) blood count as all of these measures are important for your diagnosis and treatment: A sample of blood is taken and checked for:

  • The number of red blood cells and platelets.
  • The number and type of white blood cells.
  • The amount of haemoglobin (the protein that carries oxygen) in the red blood cells.
  • The portion of the blood sample made up of red blood cells.

Bone marrow aspiration and biopsy: Bone marrow, blood and a small piece of bone will be removed by inserting a hollow needle into the hipbone or breastbone. It will be checked for abnormal cells. Cytogenetic analysis: The cells in a sample of blood or bone marrow are checked under a microscope for changes in the chromosomes. One of the most commonly looked for changes to diagnose MPNs are the presence of the Philadelphia chromosome.

In addition blood tests to measure your serum vitamin B-12, uric acid, blood oxygen and erythropoietin levels might also be recommended, as might a test to check that your blood is clotting normally. Chest X-rays, abdominal ultrasounds and CT scans can be used to rule out lung and kidney diseases, and to measure spleen and liver size. A JAK2 mutation test is used to find out whether you have this mutation – present in over 95% of patients with PV.