Background: Polycythemia vera (PV) is a rare myeloproliferative neoplasm driven by JAK2 mutations. This study explored the patient journey and as-sessed the impact of PV on quality of life (QoL), disease awareness, and un-met needs. Methods: A mixed methods approach was employed comprising qualitative in-depth interviews and focus group discussions, followed by quantitative computer-assisted web interviews (CAWI). Adults diagnosed with PV and receiving treatment in Portugal were eligible. The qualitative phase focused on developing a patient journey map (PJM), while the quanti-tative phase estimated the impact of PV on QoL, disease awareness, and un-met needs using descriptive statistics. Results: Eight patients participated in the qualitative part (interviews: 5; focus group: 3), and 20 completed the CAWI. PJM insights revealed PV`s significant emotional, professional, social, and physical impact. Diagnostic delays were frequent, often due to nonspe-cific symptoms and limited provider awareness. Quantitative findings showed that fatigue (70%), fear about the future (47%), changes in routine (36%), social isolation (50%), and work-life disruptions (80%) were key QoL challenges. A high impact on QoL was reported by 9/14 patients for fatigue, 4/11 for changes in daily routine, 9/17 for future anxiety, 3/6 for social isola-tion, and 4/5 for work-life disruptions. Pain during phlebotomy was com-monly reported. Notably, 90% of patients were unaware of support groups. Conclusions: The study provided valuable insights into the experiences of patients with PV and highlighted the unmet need for support programs for healthcare professionals to facilitate early diagnosis, and targeted education initiatives to empower patients and improve QoL.
Pierdomenico et al. (Wed,) studied this question.