To diagnose polycythemia, a doctor will begin by discussing the patient's health history and doing a physical examination. The doctor will check for evidence of low brain or lung blood flow by asking about symptoms such as headache, weakness, tinnitus (ringing or buzzing in the ears), or vision problems. The doctor will also look for physical signs of increased blood volume, such as dilated veins and a ruddy complexion. If the skin is flushed or itchy, particularly after a hot bath, it may indicate a diagnosis of polycythemia.
The doctor may also check for a history of smoking or alcohol abuse or a family history of kidney disease. A careful physical examination might also be done to check for high blood pressure, obesity, lack of oxygen (cyanosis), heart murmurs, or abdominal noises (audible swishing or murmuring sounds heard over an artery or vascular channel, called bruits). Various blood tests will likely be done, including a complete blood cell count and measurement of levels of vitamin B12 and certain other substances. Uric acid levels may also be increased and should be checked. Your doctor may also order tests for gene mutations associated with the condition.
Additional tests will then be done to find out whether it is polycythemia vera or secondary polycythemia. These tests will probably include a history and physical examination, measurements of oxygen saturation, and a complete blood count. For some people, the doctor may suggest a bone marrow test. A blood test to look for a mutation in a protein called Jak-2 may be performed.