Symptoms and Quality of Life of Patients with Paroxysmal Nocturnal Hemoglobinuria as Assessed by Patients and Doctors: Disease Burden and Unresolved Problems Based on the Results of a Multicenter Observational SUN-PNH Study

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disorder characterized by chronic hemolysis, thrombosis, and a substantial disease burden, including somatic and psycho-emotional manifestations, impaired quality of life, and social vulnerability. Despite substantial advances in the management of PNH, patients continue to experience multiple challenges that underscore the persistent burden of disease. Objective. To evaluate the frequency and severity of PNH symptoms, their impact on daily and professional activities, and to compare patient- and physician-reported assessments. Material and methods. The multicenter observational SUN-PNH study (2024–2025) enrolled 91 patients with classical PNH and 15 hematologists from 13 Russian centers. Patient and physician questionnaires were based on PNH-SQ, QLQ-AA/PNH, and WPAI-SHP instruments. Assessments included the presence and severity of symptoms, their impact on quality of life and work productivity. Concordance between patients and physicians was analyzed using Cohen’s kappa. Results. The most common symptoms were fatigue (76–77%), sleep disturbances (56–64%), dyspnea (58%), headache (52–64%), and muscle weakness (51%). Psycho-emotional manifestations (depression, nervousness) were reported by ~50% of patients but were documented much less frequently by physicians. Concordance was moderate to high for somatic symptoms (κ = 0.5–0.7) and low for psycho-emotional symptoms (κ < 0.2); for symptom severity, agreement was lower, ranging from maximal for swallowing difficulties (κ = 0.666) to minimal for nervousness (κ = 0.117). Symptoms limited daily activities in 92% of patients and professional activities in 35%. Additional support was required by 43% of patients. Conclusion. These findings demonstrate the persistence of a substantial disease burden in Russian patients with PNH, even under therapy. The greatest discrepancies between patients and physicians concerned psycho-emotional symptoms. The results highlight the need for systematic use of patient-reported outcomes and implementation of comprehensive, patient-centered approaches to PNH management.