Because TSC affects multiple organs, diagnostic studies are recommended for all individuals with a new diagnosis of TSC regardless of their outward manifestations of the disease. For example, published recommendations for diagnostic and follow-up evaluations suggest baseline imaging using cranial MRI or CT regardless of the presence of neurological symptoms. This suggestion is because it is important to identify possible subependymal giant cell astrocytoma (SEGA), which has an increased growth potential over subependymal nodules (SEN) and therefore needs more extensive follow-up.
In order to ensure comprehensive care, referrals to a variety of specialists familiar with TSC should be coordinated. If possible, a referral to a multidisciplinary clinic specializing in TSC is ideal, as the center will likely house all necessary specialists, including a dermatologist, neurologist, geneticist, nephrologist and/or urologist, ophthalmologist and cardiologist.
The clinician making the diagnosis of TSC may recommend that other, at-risk family members also be evaluated for this condition. TSC is an autosomal dominant genetic disorder, and while all persons with TSC are thought to have symptoms, the presentation of their symptoms can be highly variable even within the same family. A determination of whether or not the parents and siblings of a diagnosed child are affected is important to the provision of later genetic counseling, thereby making an accurate diagnosis necessary. While an estimated two-thirds of individuals diagnosed with TSC are born into families with no prior history of the disease (i.e., sporadic mutation), it is becoming more and more common for adults to learn of their own diagnosis following the diagnosis of their child or because of other medical concerns.
There is some debate as to which evaluations are necessary when testing the parents of a newly diagnosed child. The consensus is that a thorough physical examination conducted by a physician familiar with TSC will detect the majority of affected individuals. The evaluation should include a skin examination with a Woods lamp (ultraviolet light) and a retinal examination through dilated pupils. Further examination via diagnostic imaging of the brain and kidneys should be ordered for the parents of children with TSC and/or for adults with medical issues that suggest a diagnosis of TSC. Diagnostic molecular testing should also be discussed with the parents of a newly diagnosed child and/or adults suspected or diagnosed with TSC.
Reviewed by Ashley Pounders, MSN, FNP-C, Director of Medical Affairs, TSC Alliance, November 2023.