Living with dystrophic epidermolysis bullosa in Poland: first national study of health-related quality of life and symptom burden

Abstract Background Dystrophic epidermolysis bullosa (DEB) is a rare genetic disorder associated with substantial and multidimensional disease burden. Although therapeutic options are advancing globally, patients in Central and Eastern Europe continue to face significant systemic barriers, including limited access to specialized care and innovative treatments. This study aimed to comprehensively assess health-related quality of life (HRQoL) and symptom burden in a national cohort of patients with DEB in Poland, with the objective of identifying key unmet needs. Methods A cross-sectional study was conducted in collaboration with the EB Polska Foundation. Data were collected through a structured, multi-modular online survey. Symptom severity, including pain and pruritus, was evaluated using an 11-point Numeric Rating Scale (NRS). HRQoL was assessed using validated dermatology-specific instruments (DLQI/CDLQI, Skindex-29) alongside a generic measure (SF-36). Statistical analysis was limited to descriptive methods. Results A total of 33 patients with DEB were included (mean age: 23.7 years; 75.8% female). The cohort exhibited a high symptom burden, with mean NRS scores of 5.7 for pain and 5.9 for pruritus. Dermatology-specific instruments indicated severe impairment in HRQoL (mean DLQI: 13.9; CDLQI: 14.3), with the highest burden observed in the symptoms domain of Skindex-29 (mean: 48.9). In contrast, the SF-36 revealed a marked discrepancy between physical and mental health domains: physical functioning remained relatively preserved (mean: 94.5), whereas mental health scores were markedly reduced (mean: 22.4), indicating substantial psychological morbidity. Conclusions Patients with DEB in Poland experience a considerable symptom burden and pronounced psychological distress, despite maintaining relatively preserved physical functioning, potentially reflecting adaptive coping mechanisms. This discordance highlights persistent disparities in care. Addressing these gaps requires systemic healthcare interventions, including the development of specialized reference centers for rare diseases, integration of routine psychological assessment, and improved access to disease-modifying therapies.