Comparing the diagnosis, disease, and treatment experience of essential thrombocythemia from clinicians' and patients' perspectives: Insights from a qualitative interview study in the United States

Abstract

Abstract Background: Essential thrombocythemia (ET) is a rare, chronic myeloproliferative neoplasm marked by an overproduction of platelets, which can lead to thrombotic and hemorrhagic events, and may progress to more advanced diseases like myelofibrosis or acute myeloid leukemia. This study explored the ET diagnosis, symptom, impact, and treatment experience from patient and clinician perspectives. Methods: This non-interventional United States-based study involved semi-structured interviews with 10 hematologist-oncologists (hereafter specialists) who treat ET and 10 adult patients with ET receiving cytoreductive therapy. Open-ended interview guides explored and compared specialist and patient perspectives across the ET journey, including diagnosis, symptoms, health-related quality of life (HRQoL), and treatment. Transcripts were coded and thematically analyzed to identify key insights. Results: Demographics: Seven specialists were from community settings and 3 from academic settings, with 5-25 years of ET experience, mostly treating patients aged 40+. At the time of the interviews, all patients had received hydroxyurea, with 7 currently receiving it, including 6 as first-line therapy. Two were receiving ruxolitinib, and 1 was receiving peginterferon alfa-2a. Median patient age was 54.5 years (Range: 50-73); 8 were female. Diagnostic Journey: Specialists generally described a quick diagnostic journey, typically via referral from a single provider, usually a primary care provider (PCP). They acknowledged potential delays when PCPs did not refer patients with high platelet counts promptly. Specialists noted that bone marrow biopsies and genetic testing were important to distinguish among MPNs, though occasionally omitted due to clear evidence of ET or insurance/patient refusal. Patients described more complex or prolonged diagnostic journeys, with some seeing up to 4 providers with different specialties prior to diagnosis. Some expressed a lack of confidence in their PCP's knowledge of ET, prompting them to conduct their own research or seek second opinions. Once under specialist care, patients described a similar diagnostic process, including genetic testing and exclusion of other conditions. ET Symptoms and HRQoL: When discussing symptoms, specialists acknowledged ET-related symptoms, such as headaches, night sweats, vision issues, dizziness, blood clots or bleeding, and fatigue, but many described most patients as asymptomatic, particularly before diagnosis, and reported minimal impact on daily life. Patients, however, reported a broader symptom burden both before and after diagnosis. The most frequently mentioned symptom was fatigue. Other frequently mentioned symptoms included night sweats, bone pain, cognitive difficulties, and itch. These symptoms impacted sleep, physical functioning, social and emotional well-being, work, finances, and daily activities. Treatment Decision Making: Using platelet counts as one indicator of treatment efficacy, both groups agreed that treatments generally worked well. Specialists were generally satisfied with existing ET treatments, noting some but limited tolerability issues, often downplaying such effects on patients, highlighting treatment effectiveness and describing any ongoing symptom burden as minimal or manageable. Specialists expressed a need for more targeted, disease-modifying treatments. Several patients, however, reported persistent symptoms while on treatment and side effects affecting their daily lives, concerns about long-term chemotherapy use, and frustration with lifelong treatment. Patients also emphasized the need for treatments with better disease control and manageable side effects. Conclusions: This study uncovered several gaps between specialists' and patients' perspectives across the ET disease journey. Patients described more complex and prolonged diagnostic experiences than specialists reported. While specialists generally perceived patients with ET having minimal symptoms, patients reported persistent symptoms that significantly impacted their HRQoL. Both groups acknowledged a need for improved therapies, with specialists seeking more effective, disease-modifying options, and patients prioritizing better disease control without added side effects. These findings highlight differing views of the disease experience and underscore the need to bridge these gaps in perspectives. Additional interviews and surveys are underway to further explore these perspectives.