Health-related quality of life and its influence factors in Chinese patients with phenylketonuria

Background Phenylketonuria, a rare genetic metabolic disorder, can cause various complications and severe impairments to patients' health-related quality of life. However, most evidence comes from Western populations, which may not apply to China due to differing healthcare systems and cultures. Thus, this study evaluated HRQoL in Chinese PKU patients and its key influencing factors to inform tailored policies and clinical interventions. Methods In 2025, a cross-sectional study included PKU patients across China. The study population was recruited from the Rare Disease Diagnosis and Treatment Collaborative Network Hospitals. An online survey with the EQ-5D collected sociodemographic and clinical data; descriptive statistics summarized participant traits and HRQoL, while Tobit and OLS regression analyses factors affecting HRQoL. Results This study included 196 valid questionnaires from Chinese PKU patients. The patients had a mean age of 9.48 years, and 54.59% were male. Most patients (62.24%) were from rural areas, and 85.71% had a primary school education or lower. Among the participating families, 47.96% reported an annual income of ¥10,000–50,000. The mean EQ-5D health utility score was 0.91, and the mean EQ-VAS score was 77.07. Multiple linear regression showed lower HUS was linked to disability and complications, while VAS was associated with treatment compliance, discrimination, disability, and complications. Conclusion Our study revealed that Chinese PKU patients have relatively high HRQoL, with mean HUS and VAS scores being slightly lower than those of the general Chinese population. However, patients with disabilities, complications, and those experiencing discrimination had significantly lower HRQoL scores. These influence factors provide valuable insights to guide improvements in the HRQoL of PKU patients.