Because tuberous sclerosis complex (TSC) is a lifelong condition, it is important for all individuals with the disorder to be followed medically from infancy through old age.
The range of symptoms among people with TSC varies dramatically, from minor skin lesions to severe epileptic seizures, cognitive impairment, and, in rare cases, life-threatening conditions. Symptoms in the same individual may change over time, as well. Tumors or cysts that once posed no threat may rapidly double in size or number, potentially threatening normal organ function.
The level of medical care and oversight required by people with TSC, likewise, varies from person to person and may change for an individual over time. What is clear for all cases, however, is that early diagnosis, careful monitoring, and intervention can dramatically improve the long-term prognosis for people with TSC.
Adequately caring for an individual with TSC typically requires a collaborative effort of a team of qualified physicians and other medical providers familiar with the disorder's range of symptoms and their implications. For many, the most important member of this team is the primary care physician or pediatrician of the person with TSC. This is the physician with whom the individual with TSC will likely have the most contact and who will help coordinate medical care by providing referrals to specialists and ordering tests and imaging examinations.
Collaboration among specialists and the primary, or referring, physician is critical to effective diagnosis and treatment of a person with TSC. Centers like the Herscot Center, which specializes in treating people with TSC, facilitate such collaboration by providing all relevant specialists within one facility. There are now at least 15 TSC centers in the United States. To find a current list, please see the TS Alliance website. Those who do not have access to such a center may have to rely more heavily on their primary physician to put them in contact with the applicable specialists and to make arrangements for necessary tests.
The medical care team for someone with TSC may include some or most of the specialists listed in each page of the How TSC Affects the Body section of this site.
A collaborative approach to the medical care of someone with TSC is necessary given the many organ systems that may be affected. Regular monitoring is also essential to identify problems that may arise over time. Most physicians recommend complete examinations every one to three years on average, but a coordinated treatment plan should be determined on an individual basis.
For a coordinated treatment plan to work most effectively, it is important that everyone collaborating in the care of an individual with TSC have access to up-to-date information. In addition to the records the physicians keep, it is recommended that individuals with TSC or their family members take responsibility for maintaining detailed documentation of medical care. This may include keeping copies of all test results, images, prescriptions, and any other documents pertaining to TSC. The TS Alliance publishes a journal that can be used to organize this information. The Tuberous Sclerosis Journal can be downloaded from the TS Alliance website.
When physicians suspect that an individual has TSC, they typically perform the following examinations:
- Echocardiogram and electrocardiogram (EKG/ECT) to detect cardiac rhabdomyomas
- Complete physical exam to identify skin abnormalities—typically includes an examination with a Wood's lamp to identify hypomelanotic macules
- Brain MRI, or CT scan to detect brain abnormalities, including cortical tubers, SENs, and SEGAs
- Renal ultrasound, MRI or CT scan to look for renal angiomyolipomas (AMLs) or cysts
- Ophthalmologic exam to look for retinal hamartomas
If a TSC diagnosis is confirmed the following additional testing is recommended:
- Neuropsychological or neurodevelopmental evaluation
- Assessment of family history
- Consultation with someone knowledgeable in the genetics of TSC, such as a genetic counselor or geneticist
Following diagnosis, a schedule for routine follow-up care should be established with the individual's physician or team of physicians. This schedule should include periodic monitoring of brain abnormalities throughout childhood and adolescence, kidney imaging, neurodevelopmental testing, and lung imaging in women beginning around the age of puberty.
Further testing such as mental health evaluations, and procedures such as embolization to slow or stop the growth of kidney tumors, or laser surgery to remove angiofibromas may be recommended by a physician to maintain quality of life and overall health.