Hanisch Marcel, Jung Susanne, Kleinheinz Johannes
Klinik für Mund-, Kiefer- und Gesichtschirurgie, Universitätsklinikum Münster, Münster.
Gesundheitswesen. 2019 Nov;81(11):902-906. doi: 10.1055/a-0592-7039. Epub 2018 Apr 13.
In 2013 the German Ministry of Health initiated a "National Plan of Action for People with Rare Diseases" (NAMSE), in order to improve medical treatment for people with rare diseases. The aim of NAMSE is to set up appropriate medical care for those affected, as well as to obtain information on the current state of care for these patients. The aim of this study was to obtain information on the oral health-related quality of life (OHRQoL) of people with rare diseases with oral involvement.
In the context of the NAMSE plan, special consultation times were introduced for people with rare diseases with oral involvement. Using the standardized OHIP 14 questionnaire, specific information was acquired on OHRQoL, as was as general information on the disease in question.
During consultation hours, 50 people were treated who, on average, travelled 143 km each way. On average, patients had to wait 5 years before the final diagnosis of their rare disease was reached. The mean OHIP 14 overall score achieved was 26.4.
The long distances travelled show the effort involved for patients, especially for those who come for a series of sessions. This has led to a call for a nationwide system of special consultation sessions for rare diseases with oral involvement - something NAMSE has also called for. There seems to be a markedly worse OHRQoL among all our patients. Overall, rare diseases with oral involvement appear to benefit more from an earlier diagnosis of the disease than do rare diseases without any oral involvement.
2013年，德国卫生部发起了一项“罕见病患者国家行动计划”（NAMSE），以改善罕见病患者的医疗待遇。NAMSE的目标是为患者建立适当的医疗护理，并获取这些患者当前护理状况的信息。本研究的目的是获取有口腔受累的罕见病患者与口腔健康相关的生活质量（OHRQoL）信息。
在NAMSE计划的背景下，为有口腔受累的罕见病患者设置了特殊咨询时间。使用标准化的OHIP 14问卷，获取了关于OHRQoL的具体信息以及有关所讨论疾病的一般信息。
在咨询时间内，共治疗了50人，他们平均每次前来就诊的单程距离为143公里。患者平均要等待5年才能最终确诊其罕见病。OHIP 14的总体平均得分是26.4。
长途跋涉显示出患者所付出的努力，尤其是那些需要多次就诊的患者。这导致呼吁建立一个全国性的针对有口腔受累的罕见病的特殊咨询会议系统——NAMSE也提出了这一要求。在我们所有的患者中，OHRQoL似乎明显更差。总体而言，有口腔受累的罕见病似乎比没有任何口腔受累的罕见病从疾病的早期诊断中获益更多。
