A Qualitative Approach to Quality of Life in Fibrous Bone Dysplasia /McCune Albright Syndrome: Looking Beyond Quantitative Analysis.

Abstract

This study explores FD/MAS patient's perceptions about their disease and its impact on their quality of life. We have evaluated quality of life (QoL) in French Fibrous Dysplasia/MacCune-Albright Syndrome (FD/MAS) patients using a qualitative approach with focus groups to explore perceptions, symptoms and limitations associated with FD/MAS and a quantitative method with the Short Form-36 (SF36) to quantify QoL. Focus groups revealed the heterogeneity of FD forms and allowed for understanding the reasons of reduced QoL. Patients identified pain as the dominant symptom. The impact on mental health was explained by diagnostic uncertainty, disease chronicity and rarity and the inconsistent effectiveness of therapies. Patients talked about disability but also of coping strategies. They expressed their need for comprehensive and multi-disciplinary care from medical and paramedical professionals familiar with their pathology. The quantitative questionnaire SF36 confirmed reduced QoL in these patients compared with the French general population in all sub-domains: physical function (72.1 versus 84.4, p = 0.0001), physical role (60.5 versus 81.1, p = 0.0004), body pain (58.7 versus 72.4, p = 0.0004), general health (50.08 versus 67.6, p < 0.0001), energy (44.58 versus 57.2, p < 0.0001), social function (61.34 versus 80.5, p < 0.0001), emotional role (57.98 versus 81.3, p = 0.0002) and emotional well-being (57.98 versus 81.3, p = 0.0097). Polyostotic patients had poorer QoL compared with monostotic patients. A better understanding of the disease experience and expectations of FD patients will enable practitioners to provide care better adapted to patients' needs, and pave the way for optimizing DF care.