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- Title
Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management.
- Authors
Samueli, Sharon; Abraham, Klaus; Dressler, Anastasia; Groeppel, Gudrun; Jonak, Constanze; Muehlebner, Angelika; Prayer, Daniela; Reitner, Andreas; Feucht, Martha
- Abstract
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.
- Subjects
TUBEROUS sclerosis; MULTIPLE organ failure; BENIGN tumors; GENETIC mutation; FAMILIAL diseases; GENETICS
- Publication
Wiener Klinische Wochenschrift, 2015, Vol 127, Issue 15/16, p619
- ISSN
0043-5325
- Publication type
Article
- DOI
10.1007/s00508-015-0758-y