French Reference Center for Fibrous Dysplasia, Rheumatology Department, Hôpital E.Herriot, Lyon, France; INSERM UMR 1033, Université Lyon 1, Hôpital E Herriot, Lyon, France.
French Reference Center for Fibrous Dysplasia, Rheumatology Department, Hôpital E.Herriot, Lyon, France.
Eur J Med Genet. 2023 Nov;66(11):104849. doi: 10.1016/j.ejmg.2023.104849. Epub 2023 Sep 20.
Reference Centers and Rare Disease Health Networks aim to improve the management of patients with rare diseases. The French reference center for Fibrous Dysplasia was certified in 2006.
The objective of our study was to assess the effectiveness of our reference center since its constitution.
In a retrospective cohort study, we compared the activity of our center, including the time elapsed between access to the center and the diagnostic delay of patients with Fibrous Dysplasia between two periods, 1994-2006 (before certification) and 2007-2019 (after certification). Data were extracted from patients' records (Easily®). Wilcoxon and Fisher tests were performed, using R®.
Our cohort included 527 patients with Fibrous Dysplasia/Mc Cune Albright syndrome. The activity of the Fibrous Dysplasia center increased from 139 patients in the first period (1994-2006) to an additional 388 patients for the second period (2007-2019). Mean time elapsed to diagnosis of Fibrous Dysplasia was 1.5 years before 2007 and 1.9 years after 2007 (p = 0.12). Diagnosis was made before referral in over 80% of patients. There was a non-significant decrease in the number of patients with delayed diagnosis: 37 patients (44%) in the first period had a diagnostic delay and 94 patients (33%) in the second period (p = 0.07). Patients were referred to our center on average 6.8 years (before 2007) and 7.9 years (after 2007) after their diagnosis (p = 0.77).
Healthcare organization with reference centers significantly impacted the management of patients with Fibrous Dysplasia/Mc Cune Albright syndrome, with a substantial increase in the activity of our center, that roughly tripled since certification. This healthcare organization was also associated with a trend toward decreasing diagnostic delay. However, diagnostic delay affected more than a third of patients and the time to access to the center remained extended (≈7-8 years after diagnosis). The current challenge lies in informing primary care providers and patients about education to rare diseases and existence of reference centers for earlier and more effective specialized management.
参考中心和罕见病健康网络旨在改善罕见病患者的管理。法国纤维发育不良参考中心于 2006 年获得认证。
我们研究的目的是评估自成立以来我们参考中心的有效性。
在一项回顾性队列研究中，我们比较了我们中心的活动，包括纤维发育不良患者从进入中心到诊断延迟的时间，该研究在两个时期进行，1994-2006 年（认证前）和 2007-2019 年（认证后）。数据从患者记录中提取（Easily®）。使用 R®进行 Wilcoxon 和 Fisher 检验。
我们的队列包括 527 名纤维发育不良/麦库恩-阿尔布莱特综合征患者。纤维发育不良中心的活动从第一期的 139 名患者（1994-2006 年）增加到第二期的 388 名患者（2007-2019 年）。2007 年之前，纤维发育不良的平均诊断时间为 1.5 年，2007 年之后为 1.9 年（p=0.12）。超过 80%的患者在转诊前即做出诊断。诊断延迟的患者数量没有显著减少：第一期有 37 名（44%）患者诊断延迟，第二期有 94 名（33%）患者（p=0.07）。患者平均在诊断后 6.8 年（2007 年之前）和 7.9 年（2007 年之后）转诊至我们中心（p=0.77）。
参考中心的医疗保健组织对纤维发育不良/麦库恩-阿尔布莱特综合征患者的管理产生了重大影响，我们中心的活动大幅增加，自认证以来增加了两倍多。这种医疗保健组织也与诊断延迟趋势的减少有关。然而，仍有超过三分之一的患者出现诊断延迟，而且获得中心的时间仍然延长（约在诊断后 7-8 年）。当前的挑战在于向初级保健提供者和患者宣传罕见病知识和参考中心的存在，以便更早、更有效地进行专门管理。
