Diagnosing Polycythemia Vera

Prithviraj Bose, MD:This is a fairly typical case of PV [polycythemia vera]. It’s actually classic in the sense that the hemoglobin count here is actually higher than even the earlier WHO [World Health Organization] threshold of 16.5 g/dL for women, which has now been lowered to 16 g/dL for women. So this is a clear-cut case. There are no issues here because it’s 17.1 g/dL, but one has to realize that those thresholds have been lowered intentionally, so as to not miss cases of masked PV. So this 1 is 17.1 g/dL, and she has all the other factors as well. You notice the elevated white blood cell count, theJAK2mutation, the typical bone marrow appearance, and the low EPO [erythropoietin] level. Now, I will say that the spleen is enlarged in this particular patient, and that is not particularly common. It’s about 40% at presentation, so I occasionally see it, but it’s not a very common thing at presentation in PV.

I will say that if you probe enough, most patients will have symptoms. But generally, what brings them to light or to medical attention is the elevated counts that we just talked about. But if you ask about fatigue and itching, especially after a shower, you get affirmative responses quite a bit.

In my experience, patients with PV are typically not misdiagnosed. I would not say that that’s very common. However, it’s important to dwell a little bit on why the WHO lowered the thresholds, which as you know, they did, and that was because cases were getting missed. What is called masked PV was getting missed, and these patients had inferior outcomes. And this is why the WHO did a couple of things. They actually lowered the hemoglobin and hematocrit thresholds for both men and women for the diagnosis and also made the bone marrow biopsy a major criterion or a required criterion, which was not the case earlier. There is 1 little exception to that, which that is if patients meet the older criteria, then you could do away with a bone marrow biopsy if the patient did not want one. But otherwise, the bone marrow biopsy is an essential criterion now.

Symptoms are a big part of the disease burden in myeloproliferative neoplasms [MPNs] as a whole, not just in PV. And these are underappreciated. We know from the MPN LANDMARK STUDY that the perceptions of physicians and patients were very different when it came to symptoms. So what I would advise is asking what we called the MPN10 questions, essentially to all patients with MPNs. It’s really not that hard or time consuming. It’s fatigue, inactivity, abdominal discomfort, early satiety, fevers, night sweats, weight loss, itching, bone pain, trouble concentrating, and that’s about it. So I would advise proactively asking those questions.

Transcript edited for clarity.

Case: 58-Year-Old Woman Diagnosed With Polycythemia Vera

November 2018

• A 58-year old woman presents to PCP complaining of abdominal pain, dizziness and headaches
• PE: BP 140/85; Splenomegaly ~6 cm below left costal margin
• PMH: No prior history of thrombosis
• Lab values:
  • HGB: 17.1 g/dL
  • Hct: .50 L/L
  • RBC: 71 x 10¹²/L
  • WBC: 13.2 x 10⁹/L
  • Serum EPO: 4.1 mU/mL
• Bone Marrow Biopsy: Erythroid hyperplasia
• Cytogenetics: JAK-V617Fmutation