Objective: Recent evidence showed growing concerns about relevant health outcomes in studies with Osteogenesis Imperfecta (OI) patients, most cases limited to fracture numbers or pain rather than patient-centered outcomes, such as Health-Related Quality of Life (HRQoL). This study evaluates perception of Quality of Life (QoL) by adult patients with OI in Brazil.

Methods: This study is part of a nationwide cohort “Value of Healthcare Journey for Patients With Rare Diseases Project” (JAV-Raras). We assessed the HRQoL of OI patients with the EQ-5D-3L questionnaire (EuroQol group).

EQ-5D-3L explores participant's perception of their health status in the last six months through five domains (mobility, self-care, usual activities, pain/discomfort, and anxiety/depression). Data were collected in Medical Centers throughout the country. We identified 13 participants with OI types I, III or IV. We used nonparametric Bootstrapping ANOVA to assess the difference in QoL perception between patients by OI type. We also determined which domain was more related to QoL value through the Spearman correlation test.

Results: ANOVA analysis showed no difference in QoL perception between patients by OI type. The domains more related with QoL were habitual activities (0.82, p<0.05), mobility (0.60, p<0.05), and pain/discomfort (0.58, p<0.05), respectively, where the worse health status, the worse patient's QoL.

Conclusion: Despite the small sample, we show that the QoL of OI patients isn’t determined only by the fractures and pain but the perception of other domains as the ability to carry on usual activities. We hope that future studies consider different QoL outcomes that allow for an integral analysis of the physical and psychological health of the patients.

Declaration of funding: This study was funded by the National Council for Scientific and Technological Development – CNPq and the Ministry of Health of Brazil – MoH.