Department of Nephrology, Hannover Medical School, Hanover, Germany.
Department of Prosthetic Dentistry and Biomedical Materials Research, Hannover Medical School, Hanover, Germany.
BMC Health Serv Res. 2023 Aug 23;23(1):904. doi: 10.1186/s12913-023-09886-7.
Patients with rare diseases usually go through years of diagnostic odysseys. The large number of rare diseases and the associated lack of expertise pose a major challenge to physicians. There are few physicians dealing with patients with rare diseases and they usually work in a limited number of specialized centers. The aim of this study was to evaluate the diagnostic efficiency of an expert center.
The diagnostic pathway of 78 patients of the outpatient clinic for rare inflammatory systemic diseases with renal involvement was analyzed retrospectively. For this purpose, each examination day was documented with the corresponding examinations performed from the onset of initial symptoms. Three time points were considered: The time when patients first visited a physician with symptoms, the time when patients consulted an expert, and the time when they received the correct diagnosis. In addition, it was documented whether the diagnosis could be made without the expert, or only with the help of the expert. The examinations that confirmed the diagnosis were also documented for each patient.
A correct diagnosis was made without the help of the expert in only 21% of cases. Each patient visited an average of 6 physicians before consulting the expert. Targeted diagnostics enabled the expert to make the correct diagnosis with an average of seven visits, or one inpatient stay. However, referral to the expert took an average of 4 years.
The data show that rapid and targeted diagnostics were possible in the expert center due to the available expertise and the interdisciplinary exchange. Early diagnosis is of great importance for many patients, as an early and correct therapy can be decisive for the course of the disease.
患有罕见病的患者通常要经历多年的诊断探索。大量的罕见病和相关的专业知识缺乏对医生构成了重大挑战。只有少数医生专门治疗罕见病患者，而且他们通常在有限的几个专业中心工作。本研究的目的是评估一个专家中心的诊断效率。
回顾性分析了 78 例患有罕见炎症性系统性疾病且有肾脏受累的门诊患者的诊断途径。为此，从出现初始症状开始，记录每个检查日的相应检查。考虑了三个时间点：患者首次因症状就诊的时间、患者咨询专家的时间以及患者获得正确诊断的时间。此外，还记录了是否可以在没有专家的情况下或仅在专家的帮助下做出诊断。还为每位患者记录了确诊的检查。
仅在 21%的病例中无需专家帮助即可做出正确诊断。每位患者在咨询专家之前平均就诊 6 次。目标明确的诊断使专家平均在 7 次就诊或 1 次住院时做出正确诊断。然而，将患者转介给专家平均需要 4 年的时间。
数据表明，由于专家的专业知识和跨学科交流，在专家中心可以实现快速和有针对性的诊断。早期诊断对许多患者非常重要，因为早期和正确的治疗对疾病的进程可能具有决定性意义。
