A study found that low utilization of essential diagnostic procedures for polycythemia vera among patients, primarily due to financial constraints, led to a substantial diagnostic gap, potentially resulting in misdiagnosis and inflated health care costs.
“Accurate diagnosis is crucial for appropriate management and for distinguishing PV [polycythemia vera] from other causes of erythrocytosis,” the investigators wrote, “Limited access to key diagnostic procedures—such as Janus kinase 2 (JAK2) V617F mutation or JAK2 exon 12 mutation analysis and erythropoietin (EPO) level assessment—poses significant challenges in low- or middle-income countries (LMICs).”
Therefore, the investigators sought to investigate the diagnostic landscape of polycythemia vera in LMICs, particularly examining constraints linked to JAK2 V617F or JAK2 exon 12 mutation analysis and EPO level assessment, while also pinpointing the diagnostic void’s consequences for patients with polycythemia vera in LMICs.
The study, conducted over a three-year period (2018–2020) in Armenia, revealed a disparity in the utilization of essential diagnostic procedures for polycythemia vera. Among 80 patients diagnosed with polycythemia vera, only 22% of patients underwent JAK2 V617F or JAK2 exon 12 mutation analysis and 11% had EPO level measurement. Most patients’ diagnoses were solely based on histologic analysis of bone marrow.
The primary factors contributing to the diagnostic gap were financial constraints and limited availability of diagnostic resources. In LMICs, most medical expenses are borne by patients out of pocket, placing a considerable burden on individuals and families.
“Limited availability of EPO measurement exacerbates diagnostic difficulties, as levels play a crucial role in differentiating polycythemia vera from secondary erythrocytosis and misdiagnosis may result in unnecessary treatments and inflated health care costs,” they wrote.
The study’s findings highlight the challenges in obtaining JAK2 V617F or JAK2 exon 12 mutation analysis and EPO measurement in LMICs, resulting in a gap in polycythemia vera diagnosis. The investigators concluded their study writing, “addressing these challenges is essential for ensuring accurate PV diagnoses and improved patient outcomes in LMICs.”
Badikyan M, Tamamyan G, Martirosyan N, et al. Diagnostic challenges of polycythemia vera in low- or middle-income countries: addressing the diagnostic gap. Abstract MPN-505. Presented at the Eleventh Annual Meeting of the Society of Hematologic Oncology; September 6-9, 2023; Houston, Texas.