Background: Essential thrombocythemia (ET) is a rare, chronic myeloproliferative neoplasm characterized by sustained elevated platelet counts, risk of vascular complications, and progression to myelofibrosis or acute myeloid leukemia. This study aimed to better understand the diagnosis journey, disease impact, including symptom burden, and unmet need while receiving cytoreductive therapy by interviewing patients with ET.

Methods: In this non-interventional study, semi-structured interviews were conducted with 10 adults, diagnosed with ET, and receiving cytoreductive therapy in the United States. Interviews explored patients' experiences across different stages of living with and managing ET. Transcripts were coded and thematically analyzed to identify key insights.

Results:

Demographics: The median age of patients was 54.5 years (range: 50-73), and 8 were female. At the time of the interview, all 10 patients had been exposed to hydroxyurea (HU) with 6 patients receiving it as their first-line treatment. The remaining 4 were on second-line treatment, including 1 who was on HU after receiving anagrelide and others who had transitioned to alternative cytoreductive agents, including 2 on ruxolitinib and 1 on peginterferon alfa-2a following prior use of HU.

Symptoms and Health-related Quality of Life (HRQoL): Although there were asymptomatic patients, many reported a wide range of symptoms. Fatigue was reported by all patients. Itch, night sweats, and bone pain were the next most frequently reported. Patients described various impacts on their lives, such as difficulties with cognition and reduced physical functioning, which affected their ability to work and carry out daily activities. Emotional impacts, including anxiety, frustration, and fear of disease progression, as well as strained family relationships were also commonly described. Further, patients noted financial impacts, namely challenges with insurance coverage and access to some treatments.

Diagnostic Journey: The diagnostic experience described by patients was diverse, providing several examples of unmet need in this patient population. While some patients experienced prompt identification of elevated platelets by primary care providers (PCP) and referral for diagnostic work-up, others described difficult and prolonged diagnostic journeys involving multiple referrals with different types of clinicians, such as PCPs, cardiologists, emergency physicians, and hematologist-oncologists. Some patients reported feeling dismissed by providers unfamiliar with ET, leading them to seek second opinions or transition their care to academic medical centers, where they generally encountered more informed and responsive care.

Treatment: While cytoreductive treatment was often effective in reducing platelet counts, patients reported fluctuations while attempting to reach an optimal dose or during periods of reduced effectiveness, which many found burdensome. Many patients also continued to experience symptoms of ET while on treatment despite lowered platelet counts. Several concerns were raised about currently available treatments, including side-effects, such as gastrointestinal (GI) disturbances and skin/hair/nail issues, and necessity of lifelong use. Specific to HU, the most commonly prescribed therapy, additional apprehension arose from its classification as a chemotherapy and limited therapeutic alternatives.Conclusions: Some patients reported persistent symptoms, including fatigue, which are associated with impaired HRQoL in areas of physical functioning, cognitive abilities, the ability to work, daily activities, and emotional well-being. Some patients identified prolonged diagnostic journey requiring multiple referrals and healthcare visits as well as seeking additional opinions and specialized care. Patients identified unmet needs in current treatments, namely poor symptom control, and significant side effects. Additionally, patients noted the desire for non-chemotherapy treatments and not needing treatment for the rest of their lives. These data provide qualitative insights into the experiences of patients with ET and underscore the need for a more streamlined diagnostic process and new treatment options.

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2025
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