Zusammenfassung
Etwa zwei Drittel der Patienten mit Epilepsien können mit Antiepileptika zufriedenstellend eingestellt werden und in Mono- oder Duotherapie Anfallsfreiheit erreichen. Trotz intensiver therapeutischer Maßnahmen ist jedoch das verbleibende Drittel therapieresistent. Diese Patientengruppe leidet an immer wiederkehrenden Anfällen, die mit einem hohem Verletzungsrisiko und dem Risiko des „sudden unexpected death in epilepsy patients“ (SUDEP) verbunden sind. Die Mortalitätsrate ist erhöht, die Lebensqualität deutlich reduziert, und die Belastungen durch die Erkrankung sowohl auf den Einzelnen als auch auf das Gesundheitssystem sind enorm. Der Beitrag der Pharmakogenetik zur frühzeitigen Identifizierung von Therapieresistenz ist daher von großer Bedeutung. Ein weiteres wichtiges Forschungsfeld der Pharmakogenetik ist die Identifikation von Risikopopulationen für Arzneimittelnebenwirkungen. Derzeit leiden pharmakogenetische Studien zur Prädiktion von Therapieresistenz und zur Identifizierung von Responsern jedoch an zu geringer statistischer „power“.
Abstract
About two thirds of patients with epilepsy will achieve remission with mono- or duotherapie. One third will continue to have seizures despite multidrug treatment. These pharmacoresistant patients suffer from increased mortality due to the increased risk of injuries and sudden unexpected death in epilepsy patients (SUDEP). Not only is the quality of life is reduced, but the burden of disease and the adverse effects due to antiepileptic drug treatment in patients with epilepsy is enormous. Pharmacogenetics offer the potential to identify responders and non-responders, and to optimize treatment. In addition, the identification of the risk population for antiepileptic adverse reactions would be a major achievement in this field. Most pharmacogenetic studies to identify drug resistance early in the course of the disease suffer from low power. Further developments are intriguing and exciting results can be awaited.
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Trinka, E. Medikamentöse Therapieoptionen bei pharmakoresistenten Epilepsien. Z. Epileptol. 23, 166–170 (2010). https://doi.org/10.1007/s10309-010-0107-0
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DOI: https://doi.org/10.1007/s10309-010-0107-0