Diagnosis
The patient will be referred to a specialist (hematologist) for further examination if polycythemia vera is suspected (due to unspecified symptoms and a change in the blood count such as an increase in hemoglobin or hematocrit).
During the diagnosis, it is important to first check that the increase in erythrocytes does not stem from a reactive condition caused by an underlying disease. Hence, underlying conditions in the heart, lungs, liver, or kidneys need to be ruled out as possible causes.
- Blood analysis: The number of erythrocytes, together with the hemoglobin and hematocrit results, are elevated (hemoglobin: blood pigment, hematocrit: cellular components of blood). An increase in thrombocytes and leucocytes also points to the existence of PV.
- Genetic analysis: 95% of all PV patients are carriers of the JAK2V617F mutation.
- Measurement of the erythropoietin levels in the blood: If the kidneys suffer from a lack of oxygen, they release erythropoietin which stimulates the production of blood cells in the bone marrow (erythropoiesis). However, in the case of Polycythaemia vera, a rise in the erythrocyte count provides the organ with a higher amount of oxygen, which leads to a decline in the production of erythropoietin.
- Ultrasound scan: An ultrasound scan should be performed on the upper abdomen in order to check the size of the liver and spleen. These organs are sometimes swollen in patients with Polycythaemia vera.
- Bone marrow puncture: The removal and histological examination of bone marrow from the iliac crest region may provide verification in uncertain cases.