Jousse Juliette, Merle Blandine, Feurer Elodie, Vignot Emmanuelle, Chapurlat Roland
Rheumatology department, Hôpital E. Herriot, Lyon, France.
INSERM UMR 1033 Lyon 1 University, Pathophysiology, Diagnosis & Treatments of Musculoskeletal Disorders, Lyon, France.
Calcif Tissue Int. 2025 Jan 3;116(1):18. doi: 10.1007/s00223-024-01332-y.
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.
本研究探讨了纤维性发育不良/麦库恩-奥尔布赖特综合征（FD/MAS）患者对其疾病的认知及其对生活质量的影响。我们采用定性方法（焦点小组）评估了法国FD/MAS患者的生活质量（QoL），以探讨与FD/MAS相关的认知、症状和限制，并采用定量方法（简短健康调查问卷SF-36）对QoL进行量化。焦点小组揭示了FD形式的异质性，并有助于理解生活质量下降的原因。患者将疼痛确定为主要症状。对心理健康的影响可归因于诊断的不确定性、疾病的慢性和罕见性以及治疗效果的不一致。患者不仅谈到了残疾，还谈到了应对策略。他们表示需要来自熟悉其病情的医学和辅助医疗专业人员的全面和多学科护理。定量调查问卷SF-36证实，与法国普通人群相比，这些患者在所有子领域的生活质量均有所下降：身体功能（72.1对84.4，p = 0.0001）、身体角色（60.5对81.1，p = 0.0004）、身体疼痛（58.7对72.4，p = 0.0004）、总体健康（50.08对67.6，p < 0.0001）、精力（44.58对57.2，p < 0.0001）、社会功能（61.34对80.5，p < 0.0001）、情感角色（57.98对81.3，p = 0.0002）和情感健康（57.98对81.3，p = 0.0097）。与单骨型患者相比，多骨型患者的生活质量更差。更好地了解FD患者的疾病体验和期望，将使从业者能够提供更符合患者需求的护理，并为优化FD护理铺平道路。
