Abstract

Objective: Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, potentially fatal hematological disorder. Despite the complement 5 inhibitor (C5i) treatment, patients with PNH continue to experience significant burden of illness and reduced Quality of Life (QoL). This Japanese ethnographic study assesses what it means for patients to live well with PNH, to identify their challenges and unmet needs, and to understand the dynamics between patients and their support networks.

Methods: Six patients (≥ 18 years) with PNH receiving C5i treatment and three Healthcare Professionals (HCPs) experienced in PNH were enrolled and provided written informed consents. Data were collected via clinical immersion, written exercises, and daily diary entries for a week. Semi-structured interviews were conducted with participants and their family and friends. Data were analysed using a multi-grounded theory approach with cross case analysis, clustering exercises, and needs mapping.

Results: Despite C5i treatment, patients experienced persistent post-treatment symptoms affecting their QoL and ability to work full-time. Some patients could not identify non-classic PNH symptoms and did not communicate them to HCPs leaving them unaddressed. While current treatment options pose challenges for people living with PNH, there is also apprehension about unknown future treatments. Difficulties in seeking PNH-related information was a major obstacle in managing the disease and living fully. They felt a double social burden of using shared social resources
and not contributing to the society. Additionally, navigating support to live with PNH was challenging and added to the emotional burden of PNH.

Conclusions: This first ethnographic study in Japanese patients with PNH reiterates the significant burden of illness and reduced QoL despite C5i treatment. Further steps are needed to raise awareness of PNH symptoms for communication with HCPs to help empower patients, alleviate the social burden, increase access to PNH information, and enhance support around new treatments.

Keywords: Burden of illness; C5 inhibitor; Ethnographic study; Japan; Paroxysmal nocturnal hemoglobinuria; Persistent symptoms; Social burden