Majoor Bas C J, Andela Cornelie D, Bruggemann Jens, van de Sande Michiel A J, Kaptein Ad A, Hamdy Neveen A T, Dijkstra P D Sander, Appelman-Dijkstra Natasha M
Department of Orthopaedic Surgery, Center for Bone Quality Leiden University Medical Center, Albinusdreef 2, Postzone J11, PO Box 9600, 2300 RC, Leiden, The Netherlands.
Department of Medicine: Division Endocrinology, Center for Bone Quality Leiden University Medical Center, Albinusdreef 2, Postzone J11, PO Box 9600, 2300 RC, Leiden, The Netherlands.
Orphanet J Rare Dis. 2017 Apr 27;12(1):80. doi: 10.1186/s13023-017-0629-x.
Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with fibrous dysplasia using the Short Form-36 and the Brief Pain Inventory questionnaires. Data were compared with those of the general Dutch population.
Out of 138 patients from a cohort of 255 patients with fibrous dysplasia that were sent questionnaires assessing quality of life and pain, the response rate was 70.3%, with 97 patients, predominantly female (65%), completing the questionnaires. Monostotic fibrous dysplasia was predominant (n = 62, 64%). Fibrous dysplasia patients had significantly lower quality of life outcome scores than the general Dutch population for all tested domains of the Short Form-36 except for the "Mental health" and the "Role emotional" domains. More severe forms of fibrous dysplasia, had the more severe Short-Form-36 quality of life outcomes, but there was no significant difference in Brief Pain Inventory domains between different subtypes of fibrous dysplasia. Quality of life was lower in patients with higher disease burden, as reflected by high skeletal burden scores (p = 0.003) and high levels of P1NP (p = 0.002).
We demonstrate impairments in all domains of quality of life, except for 'Mental health' and 'Role emotional' domains, across the wide spectrum of fibrous dysplasia including its milder forms. We identified high skeletal burden scores, reflecting disease severity, as the most consistent predictor of impaired quality of life. Our findings hold significant clinical implications as they draw attention to the clinically unmet need to address quality of life issues in the management of patients with all subtypes of fibrous dysplasia, including its milder forms.
骨纤维异常增殖症是一种罕见的骨疾病，通常与疼痛、畸形和骨折相关，可能会对生活质量产生重大影响。在本研究中，我们使用简明健康状况调查量表（Short Form-36）和简明疼痛问卷（Brief Pain Inventory）评估骨纤维异常增殖症患者的生活质量。将数据与荷兰普通人群的数据进行比较。
在255例骨纤维异常增殖症患者队列中，有138例患者收到了评估生活质量和疼痛的问卷，回复率为70.3%，97例患者完成了问卷，其中女性占主导（65%）。单骨型骨纤维异常增殖症占主导（n = 62，64%）。除“心理健康”和“角色情感”领域外，在简明健康状况调查量表的所有测试领域中，骨纤维异常增殖症患者的生活质量结果得分显著低于荷兰普通人群。骨纤维异常增殖症病情越严重，简明健康状况调查量表的生活质量结果越差，但在简明疼痛问卷各领域中，不同亚型的骨纤维异常增殖症之间无显著差异。疾病负担较高的患者生活质量较低，高骨骼负担评分（p = 0.003）和高水平的I型前胶原氨基端前肽（P1NP）（p = 0.002）反映了这一点。
我们证明，在包括较轻形式在内的广泛骨纤维异常增殖症中，除“心理健康”和“角色情感”领域外，生活质量的所有领域均受到损害。我们确定反映疾病严重程度的高骨骼负担评分是生活质量受损最一致的预测指标。我们的研究结果具有重要的临床意义，因为它们提请注意在所有亚型骨纤维异常增殖症（包括较轻形式）患者管理中解决生活质量问题这一临床上未满足的需求。
