Expert Insights

Diagnosing PV

Read transcript Close transcript

Dr Shammo: I'm Jamile Shammo. I'm a hematologist at Rush University Medical Center, and I'm here today to talk to you about polycythemia vera.

The WHO 2016 proposed the diagnostic criteria for polycythemia vera and as the chart implies, you have to meet 3 major criteria or the first 2 criteria and 1 minor criteria, to be able to make the diagnosis.

So, if we go through the 3 major criteria, the very first one of which reflects the degree of hematocrit elevation or hemoglobin in order to be suspicious that this patient may have PV. And it's defined as a hemoglobin of 16.5 for men and 16 grams per deciliter for women and note that this is somewhat different from the prior WHO 2008 cutoff.

The second major criteria is a bone marrow biopsy and that's sort of an interesting change from the prior diagnostic criteria in that it became important and essential to sort of make the diagnosis, particularly in patients who don't have the JAK2V617F or Exon 12 mutation, mainly amounting to only 1% of this patient population.

But again, when you think about having a JAK2 mutation, and the fact that you could be dealing with 1 of 3 different MPNs, ET, MF, or PV, sometimes doing a bone marrow biopsy may be very important to know exactly and precisely which disease we may be dealing with.

The third criteria is basically establishing a clonal marker of this disease, and 95% of the patients would be JAK2V617F mutation positive and another 3% may have Exon 12 mutation of the JAK2 gene. So, that would be essential in making the diagnosis. And the minor criteria is simply borderline low or low serum erythropoietin level.

When we make a diagnosis of polycythemia vera, the next step would be to characterize the risk of a specific patient and the risk pertains to the risk of thrombosis.

Image of Jamile M Shammo, MD, FASCP, FACP
Jamile M Shammo, MD, FASCP, FACP Associate Professor Rush University Medical Center | Chicago, IL
As principal investigator of clinical trials in her area of expertise, Dr Shammo is heavily involved in education, research, and administrative activities in the Division of Hematology/Oncology. She is recognized nationally for her expertise in bone marrow failure syndromes/paroxysmal nocturnal hemoglobinuria (PNH) and was chosen to serve as a national coordinator for the US PNH registry.