I am a female, 50 years old and want to know whether polycythemia vera is related to cancer or not. I have taken JAK2 mutation test which is negative. What is this test for? I have erythromelalgia blood disorder. Is all this connected to cancer? I want to understand this test and doubts. Can you let me know?
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Polycythemia vera is not exactly cancer. It comes under the group of diseases called myeloproliferative disorders. Basically, it is an uncontrolled proliferation of your blood cells. In polycythemia vera, your red blood cells increase in an uncontrolled way. Usually patient present with incidentally detected high hemoglobin or hematocrit on blood tests. It can cause a headache, blurring vision, pruritis, painful extremities. One characteristics finding is aquagenic pruritis that is itching induced while bathing with hot water. It is confirmed by doing JAK2 mutation and erythropoietin levels. About 90 to 95 % of cases of PV show this mutation.
All these symptoms can be seen with secondary polycythemia which can be caused by many causes. Like tumors secreting erythropoietin (EPO), smoking, heart disease, abnormal hemoglobin. So if your EPO value is high, secondary causes need to be ruled out. As you have mentioned your reports (attachment removed to protect patient identity), fit the diagnosis of polycythemia. But JAK2 is negative. I would advise you to get EPO values, and if they are high, a detailed search for secondary causes should be done before labeling diagnosis as polycythemia vera or primary polycythemia. As JAK2 is negative, polycythemia cases are very rare. Till then, you can take antiplatelet and periodic phlebotomy to maintain a hematocrit of 42 or below.
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