Paroxysmal nocturnal hemoglobinuria: patient journey and burden of disease

Patients with paroxysmal nocturnal hemoglobinuria (PNH) often experience a lengthy path to diagnosis. Fewer than 40% of patients with PNH receive a diagnosis within 12 months of symptom onset, and 24% of all PNH diagnoses can take 5 years or longer. Diagnostic delay is a source of distress and can affect emotional well-being for patients with PNH. In PNH disease management, patients and care providers focus on risk of organ failure and mortality related to disease progression; nonetheless, patients’ health-related quality of life (HRQOL) is largely affected by extensive treatment requirements and nonfatal complications of disease, such as fatigue. In particular, thrombosis is associated with significant impairments in physical and social functioning and global health status and significant fatigue. Among patients with anemia who are transfusion dependent, the burden of transfusion is considerable. Transfusion dependence has a negative effect on HRQOL; is associated with risks and complications, including iron overload; and results in lost productivity due to travel times to and time spent at infusion centers.