A pathogenic mutation in TSC1 or TSC2 is sufficient for the diagnosis or prediction of TSC regardless of the clinical findings.
10–25% of TSC patients have no mutation identified by conventional genetic testing. Therefore, a normal result does not exclude TSC.
The diagnostic clinical criteria include 11 major features and six minor features.
A definite clinical diagnosis requires two major features or one major feature with at least 2 minor features.
A possible clinical diagnosis requires either one major feature or at least 2 minor features.
The combination of the two major clinical features lymphangioleiomyomatosis and angiomyolipoma without other features does not meet criteria for a definite diagnosis.
Comments by Evaluators:
Recommendations based on expert opinions and small series, but clearly presented and very useful for diagnostic purposes.
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.