Ruben A. Mesa, MD, FACP:The misdiagnosis of polycythemia vera has decreased sharply in the era of the presence of theJAK2mutations for us to test.
Certainly, secondary causes of erythrocytosis include, most commonly, sleep apnea and a high affinity of hemoglobins. Being an active smoker can certainly lead to erythrocytosis or leukocytosis. So can living at a high altitude. All of these are potentials, as well as rarer things such as erythropoietin-producing tumors or even rare genetic variance. The presence ofJAK2V617For the exon 12 certainly helps make it clear that there is a bone marrow disorder as the driver and helps exclude many of those secondary causes.
MPN [myeloproliferative neoplasm] patients and polycythemia vera patients, in particular, can have many difficult symptoms. To aid in assessing this, my colleagues and I helped develop a series of patient-reported outcome forms: The MPN symptom assessment form or the MPN10, where patients can fill out, serially, a series of 10 questions rating each symptom from 0 to 10 in a very neutral way so that you’re able to assess their symptoms both at baseline and then serially over time. Their value is, 1, to help to facilitate or quantify for you, their physician, what their symptoms are at that moment. Is it better or worse than when you first saw them? Should you adjust your therapy up or down based on the difficulties that those symptoms have?
We have found, and others have found when we look at patient-reported outcomes, that filling out a form is much more neutral for the patient than just asking them how they feel. When we just ask about symptoms, patients, for a variety of reasonseither concerns that their visit is going to be too short or not enough time to get to their discussion questions—may sometimes underplay their symptoms. Additionally, just verbally asking patients how they are feeling in terms of their itching or other things makes it more difficult to both quantify and record those symptomatic profiles.
Transcript edited for clarity.
Case: 75-Year-Old Man Diagnosed With Polycythemia Vera
January 2018