Abstract

Paroxysmal Nocturnal Haemoglobinuria (PNH) is an acquired, rare, chronic, potentially life-threatening haematologic disease caused by gene mutations that lead to the destruction of red blood cells by the complement system, a part of the immune system. People with PNH experience symptoms which can include anaemia, fatigue and dyspnea, and may require red blood cell transfusions, which can impact quality of life. With the introduction of the first approved therapy for PNH, a complement C5 inhibitor, life expectancy has improved and is near normal in countries where the treatment is available and accessible. However, the burden of disease remains significant for many patients despite treatment. Questionnaire-based studies have found that people with PNH still experience a variety of symptoms while on C5 inhibitor treatment: Many remain anaemic, the burden of illness remains substantial, and quality of life is impacted negatively. Though knowledge of the disease is growing, knowledge about the everyday experiences of people living with PNH remains limited. This study used a mixed methods approach, including ethnography, questionnaires, qualitative interviewing, mapping exercises and photographic interpretation to better understand the lived experiences of people with PNH. The study found that diagnosis is often challenging, and is experienced as a disruption of normality, negatively impacting ability to work, intimacy, parenthood, hobbies and other activities. Additionally, this study adds to the emerging evidence showing a significant symptom burden and reduced quality of life despite C5 inhibitor treatment. A greater breadth of experienced symptoms than commonly recognized also warrants further research. These new insights may support healthcare professionals in treating their patients with PNH by providing a more complete picture of the ways in which the disease impacts their lives and the unmet needs that remain despite C5 inhibitor treatment.