Background: Polycythemia Vera(PV) is a chronic myeloproliferative neoplasm (MPN) characterized by clonal erythrocytosis. In the context of this study, we refer to Primary Polycythemia, which includes the spectrum of PV and JAK2 unmutated erythrocytosis in patients in whom secondary causes have been ruled out. Patients with polycythemia are stratified into two risk categories: high (age >60 years or thrombosis history) and low (absence of both risk factors). Various prognostic factors including JAK 2 status, smoking, and other cardiovascular risk factors affect QoL (Quality of life) and patient outcomes. Previous studies have shown that patients with PV have poor QoL; however, none have explored the Indian sub-population till date.

Aims:

  • To stratify the risk category, study, and compare the effects of various prognostic factors on the outcomes in patients with PV vs JAK2 unmutated erythrocytosis in the Indian population.

  • To study quality of life (QoL) in patients with Primary Polycythemia in the Indian population and draw a comparison to global standards.

Methods: We conducted a retrospective review of OPD case files in all adult patients with Primary Polycythemia and in whom secondary causes had been ruled out and collected prognostic factors, stratified risk, and documented outcomes. We also performed a cross-sectional analysis of QoL in patients presenting for follow-up at our center from May to July 2025. After obtaining informed consent, we administered the MPN-SAF TSS - a validated 10-item questionnaire to assess symptom burden and QOL in patients meeting the study criteria in the patient's language of choice. We then conducted statistical analysis on the data collected.

Results: We included 118 patients, with 101 being male. 66 patients were stratified as low risk and 47 high risk. 87 patients had JAK 2 unmutated erythrocytosis while 17 had PV. The mean(SD) age was 46.2(12.8) years. 39% of patients presented incidentally while 35.6% experienced symptoms and 25.4% were diagnosed during a thrombotic episode. The most commonly reported symptom was unexplained headaches (32.2%). Social history revealed significant smoking in 40.6% of patients and alcohol use in 22.9%. A significant number of our patients had other comorbidities including hypertension in 44.1%, diabetes in 19.5% and hyperlipidemia in 6.8% of patients. Therapeutic modalities used at our center included phlebotomy in 91.5%, aspirin in 80.5%, cytoreduction with hydroxyurea in 25.4% and systemic anticoagulation in 11% of patients. 76.9% of patients reported good compliance to treatment. A majority of our patients were asymptomatic (81.3%) post treatment while 5.1% experienced arterial/venous thrombosis and 0.8% experienced fibrotic progression.

On comparing the two subgroups- PV and JAK2 unmutated erythrocytosis, we found a statistically significant (p=0.002) difference in the proportion of age groups with 90.8% of individuals with the latter being under 60 years. There was also a higher proportion of JAK2 unmutated erythrocytosis among males(p<0.01). A greater proportion of this subgroup presented asymptomatically (46%) as compared to PV(19.4%)(p=0.009). There was a significant difference in the proportion of thrombotic events between groups- they were 1.68 times more likely in patients with PV(p=0.047). There was a significantly lower difference in the proportion of smokers among PV patients(p=0.028). QoL analysis among 33 of our patients showed a mean score(SD) of 15.33(14.26), lower than the global mean score of 18.7 (Robyn M. Emanuel et al. Myeloproliferative Neoplasm (MPN) Symptom Assessment Form Total Symptom Score: Prospective International Assessment of an Abbreviated Symptom Burden Scoring System Among Patients With MPNs. JCO 30, 4098-4103(2012)). This shows the potential for much better symptom control and higher QoL with strict adherence to guidelines of therapy with a low threshold for phlebotomy.

Conclusion: Our study provides a valuable insight into the prognostic factors and disease process of PV and JAK2 unmutated erythrocytosis in the Indian population. It also gives a glimpse of the QoL in this population, which has till date never been explored before. With such significant divergence from global standards, it is integral to explore these in much greater detail to understand its intricacies in our large and diverse subpopulation. We also advocate for the routine use of a QoL screening tool to guide therapeutic strategies.

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2025
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