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Der Klinikarzt 2015; 44(1): 36-40
DOI: 10.1055/s-0035-1544986
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© Georg Thieme Verlag Stuttgart · New York

Seltene Erkrankungen in der Neurologie   Diagnosestellung, Lebensqualität und Kosten

Rare diseases in neurology – Diagnostics, quality of life and costs
Richard Dodel
1   Zentrum für seltene und unerkannte Erkrankungen (ZusE), Universitätsklinikum Gießen – Marburg, Standort Marburg
4   Klinik für Neurologie, Philipps-Universität Marburg, Marburg
,
Christiane Stieber
2   Institut für Humangenetik, Bereich Genomics, Universitätsklinikum Bonn, Bonn
,
Thomas Klockgether
3   Klinik für Neurologie, Rheinische Friedrich-Wilhelms-Universität, Bonn
› Author Affiliations
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Publication History

Publication Date:
22 January 2015 (online)

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Zusammenfassung

Erkrankungen werden in Deutschland als selten klassifiziert, wenn weniger als 5 pro 10 000 Personen erkrankt sind. Aufgrund der hohen Anzahl an Erkrankungen gehen derzeitige Schätzungen davon aus, dass etwa 5–8 % der europäischen Bevölkerung von seltenen Erkrankungen betroffen sind. Mehr als 3500 Einträge finden sich in der Orphanet-Datenbank, bei denen das zentrale Nervensystem mitbeteiligt ist. Für nur wenige dieser seltenen Erkrankungen stehen jedoch Therapieoptionen zur Verfügung, insbesondere nicht für die Erkrankungen aus dem neurologischen Formenkreis. Nur vereinzelt wissenschaftlich fundierte Daten sind zur Versorgung von Patienten mit seltenen Erkrankungen derzeit verfügbar, die zeigen, dass eine korrekte Diagnosestellung meist verspätet erfolgt, die Erkrankung zu einer deutlichen sozioökonomischen Beeinträchtigung für die Patienten und ihre Angehörigen führt, die Lebensqualität im Vergleich zur Normalbevölkerung deutlich reduziert ist, sowie die Kosten der Versorgung im Gesundheitswesen hoch sind. Dem soll im Rahmen von Nationalen Aktionsplänen Abhilfe geschaffen werden, um die Versorgung und die patientennahe Forschung für seltene Erkrankungen zu bündeln und schließlich die Lebensqualität der Patienten mit seltenen Erkrankungen zur verbessern.

Summary

In Germany diseases are classified as rare when less than 5 per 10,000 people suffer from them. On account of the large number of diseases, it is estimated that about 5–8% of the European population are afflicted by rare diseases. More than 3500 entries with involvement of the central nervous system can be found in the Orphanet data bank. However, therapeutic options are available for only a few of these rare diseases; this is especially the case for diseases of neurological origin. Currently, only isolated, scientifically-founded data are available on the care of patients with rare diseases and these reveal that, mostly, the correct diagnosis is made after considerable delays, that the diseases give rise to pronounced socio-economic burdens for the patients and their relatives, that the patients' quality of life is markedly reduced in comparison with that of the normal population and that the management costs for the health-care system are very high. Accordingly, within the framework of national action plans, the care of patients and patient-relevant research on rare diseases should be concentrated in order to improve the quality of life for patients suffering from rare diseases.

Key words

Rare diseases - neurology - cost - health-related quality of life - burden of disease
 

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