Identifying quality of life domains and facets affected in relapsing polychondritis: a qualitative analysis for the development of a disease-specific health-related quality of life instrument

Relapsing polychondritis (RP) is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures and a broad spectrum of systemic features. To date, no Health-related Quality of life (QoL) data are available in RP, and generic measures may not fully capture the unique burden faced by patients, given the specific nature of RP symptoms. This study aimed to identify QoL facets relevant for further inclusion in a disease-specific QoL instrument, the RP-QoL. An international study was conducted within the framework of the European Reference Network ReCONNET, using an online interview script designed by nine physicians, a clinical psychologist, and two patient representatives. The survey was cross-culturally adapted into five languages. Thematic analysis was performed by native speakers of each language and further aggregated to characterize QoL in RP. A total of 274 patients (median age: 54yo, 86% women) from 22 countries completed the interview. The most affected QoL facets were ‘personal relationships’ (58.8%), ‘work capacity’ (51.8%), and ‘daily activities’ (47.8%). Additional concerns included mainly fatigue, pain, cognition, mental health and social life. A total of 67 patients (24.5%) identified 20 specific issues not fully captured by generic QoL instruments, such as difficulties for planning, verbal communication, vision impairment, as well as not being considered seriously by those around them. This study highlights the profound burden of RP and emphasizes the need for the development of a disease-specific health-related QoL instrument, as a way to improve patient-centered care and disease management. Relapsing polychondritis (RP) is a rare, inflammatory disease primarily affecting cartilaginous structures, and it presents with diverse systemic symptoms. However, no health-related quality of life (QoL) data exist specifically for RP, and generic QoL measures may fail to fully capture the unique challenges faced by these patients. This study identifies specific QoL facets that are most impacted by RP, such as personal relationships, work capacity, and daily activities. It also highlights additional concerns like fatigue, pain, and mental health, which may not be adequately addressed by generic QoL instruments. The findings of this study may guide the development of more tailored, patient-centered care for RP, leading to better disease management.