The study expounded the socio-demographic and clinical characteristics of Chinese PNH patients and assessed their HRQOL based on a sample with better representativeness. Furthermore, we explored the determinants influencing HRQOL of the patients within the Chinese context. Hence, the study has deepened the understanding of the profile and HRQOL of PNH patients in China.

Consistent with previous findings [8, 13, 30,31,32], 95.1% of the patients fell between 20 and 59 years, and 70.8% were even between 20 and 39 years in our study. These suggest that PNH predominantly manifests in early adulthood and could affect individuals during their most productive years. A worrying 64.4% of the patients reported annual income below the 2021 annual average per capita disposable income of Chinese residents, implying potential economic strain or burden due to the disease [33,34,35]. Hence, to reduce its impact on productivity, the efficient control of the disease, particularly the management of hemolysis (the major characteristic of PNH [36,37,38,39]), is required.

Of significant note, our study revealed that 63.8% of the patients initially presented with hemoglobinuria, a clinical hallmark of PNH [8, 18]. This observation has interesting resonance with the report by Lee et al. [40] that hemoglobinuria was a significant predictor of thromboembolism in Asian patients with PNH. Similarly, other studies [36, 41] have also shown that PNH-related symptoms, such as hemoglobinuria or dyspnea, increase the risk of thrombosis. Those reinforce the exigency of research to delineate the relationship between clinical manifestations of PNH and thrombosis susceptibility, thereby facilitating the evolution of efficacious prophylactic and therapeutic approaches.

Consistent with previous evidence [14, 42,43,44], the misdiagnosis rate was as high as 33.7% in our study. This means that the accurate diagnosis of PNH remains challenging, though its symptoms are common [30, 36, 45,46,47,48,49]. The high rate may have serious implications including prolonged pain, exacerbating mental health challenges and rising medical costs [35]. Therefore, we urgently need to refine existing PNH diagnosis and treatment strategies to raise clinician awareness and enhance the timely and accurate diagnosis.

Compared to HRQOL of the general Chinese population measured by 5L [50], our sample demonstrated a markedly inferior HRQOL. Specifically, the proportions of reporting problems in four dimensions (AD: 81.5% vs. 47.2%, PD: 69.9% vs. 44.8%, UA: 53.5% vs. 25.1%, and MO: 51.4% vs. 26.8%) were much higher which could be attributed to the fear of PNH leading to a feeling of “life limitation” and “frailty” in these patients [51]. The average 5L HUS and VAS score (i.e., 0.76 & 62.61) also trailed significantly behind those of the general Chinese population who achieved mean of 0.93 and 84.57. Such divergences underscore the unique challenges faced by PNH patients in China, particularly in the AD dimension, highlighting the considerable psychological burden associated with PNH. Hence, a holistic healthcare approach integrating both mental and physical aspects is imperative for PNH patients in China. It is noteworthy that the proportion of SC problems was lower in our study (13.4% vs. 23.7%). This may be due to their high level of concern for their own health, regular medical follow-up, and the need for disease management. Moreover, the mean age of the general Chinese population was older (42.8 years vs. 35.3 years), and older individuals are more frequently encounter self-care challenges.

The regression results showed that demographic characteristics, gender, school/employment status, total personal income, and clinical characteristics such as initial symptoms of hemoglobinuria, anemia (fatigue, tachycardia, shortness of breath, headache), and back pain, complications of stones, thrombosis, and pathological grade were significant factors exerting differential effects on HUS, VAS score, or certain EQ-5D dimensions in Chinese PNH patients.

Gender was the key factor associated with UA problems (OR = 1.79), which may be attributed to multiple factors including cultural and social expectations. Meanwhile, the patients with PNH at school or in the work environment were at lower risk of UA problems relative to patients who were not at school or employed (OR = 0.51). This may be because these settings provide better support and adaptation, as well as opportunities to promote patients’ participation in daily activities and to maintain function [52,53,54]. High-income patients were less likely to face SC problems (OR: 0.32) and performed better on VAS score (p < 0.05), which may be because they could afford high-quality medical services. The finding is consistent with earlier studies and further confirms the strong association between socioeconomic factors and health status [53,54,55,56,57].

Our findings confirm that the initial symptoms of PNH (i.e., hemoglobinuria, anemia [fatigue, tachycardia, shortness of breath, headache] and back pain) have a significantly negative impact on HRQOL of the patients. The symptoms not only lead to physical discomfort, but also aggravate psychological burden, thus affecting the patient’s overall HRQOL [8, 34, 35, 51, 58, 59]. The logistic analysis further revealed that the patients with the symptoms performed significantly worse on several HRQOL dimensions (MO, SC, UA) than the patients without the symptoms. These results thus highlight the importance of early identification, diagnosis and treatment of the patients with PNH to relieve the impact of the symptoms.

Thrombosis was a key factor affecting HRQOL, specifically on the PD dimension in our study. The finding is consistent with relevant findings from the international PNH registry [13] and further validates the clinical importance of preventing thrombosis in PNH management. Also, the patients with stones faced more problems on the PD dimension (OR = 2.78). These problems may not only limit a patient’s daily activities, but may also lead to mood swings and reduced sleep quality, thereby exacerbating anxiety and depressive symptoms [5, 35, 59,60,61,62]. Notably, patients with classic PNH were at higher risk of AD problems compared with those with sub-clinical PNH, suggesting that they may require more medical and psychological support.

Our research has identified key factors that influence specific dimensions of HRQOL in Chinese patients with PNH, such as physical functioning and mental health. Addressing these specific areas requires targeted and comprehensive measures. Firstly, existing health policies need to place greater emphasis on the recognition and management of early symptoms to mitigate the long-term impact of PNH. This can be achieved by integrating advanced screening technologies in primary care, increasing public health education, and developing more precise diagnostic and treatment guidelines. Secondly, the health system needs to integrate more effective disease management strategies, including patient education, psychological support, and the optimal allocation of medical resources. Furthermore, enhancing healthcare providers’ ability to recognize early symptoms of PNH is crucial. We recommend regular professional training and workshops to improve medical personnel’s sensitivity to PNH diagnoses. Collaboration with hematologists is also suggested to promote shared learning experiences and ensure a multidisciplinary approach to PNH management. Strengthening public awareness of PNH is also necessary. Media campaigns, community educational activities, and cooperation with patient support groups can effectively increase societal attention to this disease. Through these measures, we hope to improve the HRQOL for patients with PNH.

Our study has several limitations. First, the PNH patients recruited were all from a single institution, though it is the largest one for the patients in China. Second, we can not infer clear causality between HRQOL and the factors assessed due to the cross-sectional design. Although the associations provide useful initial insights into HRQOL in Chinese patients with PNH, an in-depth exploration of its longitudinal impact is still warranted. Third, the current sample size may have limited the detailed analysis of all variables.