A study presented at the 11th Annual Meeting of the Society of Hematologic Oncology (SOHO) in Houston, Texas, shows a low utilization rate of essential diagnostic procedures for polycythemia vera (PV) among patients. This rate is primarily due to financial constraints leading to a substantial diagnostic gap, potentially resulting in misdiagnosis and inflated health care costs, thus emphasizing challenges faced in low- or middle-income countries (LMICs).
“Accurate diagnosis is crucial for appropriate management and for distinguishing PV from other causes of erythrocytosis. 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),” the investigators wrote.
The team sought to explore the diagnostic scenario of PV in LMICs, particularly examining constraints linked to JAK2 V617F or JAK2 exon 12 mutation analysis and EPO level assessment, while also pinpointing the consequences of the diagnostic gap for patients with PV in LMICs.
The study, conducted over a 3-year period (2018-2020) in Armenia, revealed a disparity in the utilization of essential diagnostic procedures for PV. Among 80 patients diagnosed with PV, only 22% underwent JAK2 V617F or JAK2 exon 12 mutation analysis and 11% had EPO level measurement. In addition, most diagnoses were based only on histologic analysis of bone marrow.
The primary factors contributing to this diagnostic gap were financial constraints and limited availability of diagnostic resources. Most medical expenses are borne by patients out of pocket in LMICs, placing a considerable burden on individuals and families. The investigators also noted, “Limited availability of EPO measurement exacerbates diagnostic difficulties, as levels play a crucial role in differentiating PV from secondary erythrocytosis and misdiagnosis may result in unnecessary treatments and inflated healthcare costs.”
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 PV diagnosis. The investigators concluded, “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 11th Annual Meeting of the Society of Hematologic Oncology; September 6-9, 2023; Houston, Texas.