TSC can manifest in any organ system with diverse severity, with some more prevalent during infancy and childhood and others more likely to affect individuals as adults
Many manifestations can be life-threatening and appropriate surveillance and management is necessary to limit morbidity and mortality in this disease
Initial diagnostic evaluations are necessary to confirm the diagnosis in individuals with “possible” TSC and to determine the extent of disease and organ involvement in individuals with “definite” TSC (see list of diagnostic evaluations).
Once the diagnosis of TSC is established, continued surveillance is necessary to monitor progression of known problems or lesions and emergence of new ones in other organs (see list of surveillance evaluations).
Genetic testing and counseling should be offered to individuals with TSC when they reach reproductive age.
First-degree relatives of affected individuals should be offered clinical assessment and, where a mutation has been identified in the index case, genetic testing.
Comments by Evaluators:
Recommendations based on expert opinions and small series, but clearly presented and very useful for diagnostic purposes.
The expert panel lacked the urologists, the interventional radiologist and the pathologists.