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Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management

Neue Kriterien für Diagnostik und Management der Tuberösen Sklerose

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Summary

Tuberous sclerosis complex (TSC) is a rare genetic multisystem disorder, characterized by predominantly benign tumors in potentially all organ systems. System involvement, severity of clinical symptoms and the response to treatment are age-dependent and heterogeneous. Consequently, the disorder is still not recognized in a considerable number of patients. The diagnostic criteria and the guidelines for surveillance and management of patients with TSC were revised, and the establishment of specialized TSC-centers was strongly recommended during an International Consensus Conference in 2012. TOSCA (TuberOus SClerosis registry to increase disease Awareness), an international patient registry, was started to allow new insights into the causes of different courses. Finally, there are—since the approval of the mTOR inhibitor Everolimus—promising new therapeutic approaches.

This review focuses on the various TSC related symptoms occurring at different ages, the novel recommendations for diagnosis and treatment as well as the need for multidisciplinary follow-up.

Zusammenfassung

Die Tuberöse Sklerose (TS) ist eine seltene, genetisch bedingte Multisystemerkrankung, die zu (vorwiegend) benignen Tumoren in nahezu allen Organsystemen führen kann. Sowohl Ausprägung und Schweregrad der klinischen Symptome als auch das Ansprechen auf therapeutische Interventionen sind altersabhängig und zudem individuell äußerst heterogen. Es wird daher angenommen, dass viele Betroffene spät oder gar nicht erkannt werden.

2012 wurden im Rahmen einer internationalen Konsensus Konferenz die diagnostischen Kriterien, sowie die Richtlinien für Therapie und Überwachung überarbeitet und die Etablierung spezialisierter multidisziplinärer TS-Zentren dringend empfohlen. Mit TOSCA (TuberOus SClerosis registry to increase disease Awareness) wurde zudem ein internationales Patienten-Register geschaffen, das neue Erkenntnisse über die Ursachen unterschiedlicher Ausprägung und Verläufe der Erkrankung ermöglichen soll. Seit der Zulassung des mTOR-Inhibitors Everolimus 2011 ist nun erstmals eine spezifische Multisystem-Therapie verfügbar. Der folgende Review Artikel gibt einen umfassenden Überblick über die verschiedenen Symptome und präsentiert die rezenten Neuerungen bezüglich Diagnostik, Therapie und Verlaufsbeobachtung.

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Conflict of interest

Dr. Samueli has received travel support from Novartis. Dr. Feucht has received travel support and honoraria for schientific advisory boards from Novartis.

The authors declare that there are no further conflicts of interest in relation to this article.

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Correspondence to Martha Feucht.

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Samueli, S., Abraham, K., Dressler, A. et al. Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management. Wien Klin Wochenschr 127, 619–630 (2015). https://doi.org/10.1007/s00508-015-0758-y

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  • DOI: https://doi.org/10.1007/s00508-015-0758-y

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