Streszczenie japońskich wytycznych klinicznych dotyczących epilepsji związanej ze stwardnieniem rozsiannym 2025
Executive summary of the Japanese clinical practice guidelines for tuberous sclerosis complex-associated epilepsy 2025
W skrócie
Wytyczne opisują jak rozpoznawać i leczyć epilepsję u pacjentów ze stwardnieniem rozsiannym, które często powoduje trudne do leczenia napady. Główne rekomendacje dotyczą podziału epilepsji na różne typy, leczenia lekami przeciwpadaczkowymi oraz opcji takich jak zabiegi chirurgiczne czy specjalne leki hamujące rosnięcie komórek nowotworowych. Szczególną uwagę zwrócono na dodatkowe zastosowanie leku mTOR inhibitora u pacjentów, których epilepsja nie reaguje na standardowe leczenie.
Oryginalny abstract (angielski)
PURPOSE: Tuberous sclerosis complex (TSC)-associated epilepsy often involves focal epilepsy, infantile epileptic spasms syndrome (IESS), and drug-resistant epilepsy (DRE). This article presents an executive summary of the Japanese Clinical Practice Guidelines for Tuberous Sclerosis Complex-associated Epilepsy 2025, developed to support the diagnosis, evaluation, and treatment of epilepsy in patients with TSC in Japan. METHODS: The guideline was developed by the Japanese Society of Child Neurology and the Japanese Society of Tuberous Sclerosis Complex in accordance with the Minds Manual for Guideline Development 2020. A clinical algorithm reflecting Japanese practices was created, and background questions (BQs) and one clinical question (CQ) were formulated. Evidence was collected through searches of PubMed and Ichushi-Web for articles published between 1983 and May 2021. For the CQ, a systematic review was conducted, and the recommendation was determined using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) grid method. RESULTS: The guideline covers the pathway from diagnosis and evaluation to treatment, considering TSC diagnosed before and after epilepsy onset. Based on neuroimaging and EEG-based evaluations, epilepsy is broadly classified into focal epilepsy and IESS, including West syndrome. The BQs summarize treatment strategies for focal epilepsy and IESS, and address the definition, characteristics, and treatment options for DRE, including epilepsy surgery, mammalian target of rapamycin (mTOR) inhibitor therapy, vagus nerve stimulation, and dietary therapy. The only CQ addressed adjunctive mTOR inhibitor therapy for DRE. This therapy was conditionally recommended with low certainty of evidence. CONCLUSIONS: This guideline provides a practical framework for TSC-associated epilepsy in Japan and shows how current evidence and expert recommendations can be applied to the Japanese healthcare system.