How TSC Affects Other Organs

The organs most often affected by tuberous sclerosis complex (TSC) are the brain, heart, skin, kidneys, lung, and eyes. These organs exhibit the most medically and diagnostically significant symptoms of the disorder and should be closely monitored in anyone diagnosed with TSC. However, TSC's effects are not necessarily limited to these organ systems.

The uncontrolled cell growth and proliferation associated with TSC can cause benign tumors, cysts, and other abnormalities to develop in any system of the body. This page lists areas of the body in which TSC-related symptoms occur less frequently and/or generally do not cause serious medical, developmental, or psychosocial complications.

In addition to the characteristic manifestations described elsewhere in the Living with TSC Web site, the disorder can affect the gums, teeth, and bones. It can also give rise to problems with the liver, spleen, pancreas, and gastrointestinal system. Because these manifestations are not uniquely associated with TSC, physicians sometimes overlook them or take them as indications of another disorder, especially when other signs of TSC are not obvious.

Some of the other manifestations of TSC are:

Bones
TSC may also cause lesions on the surface of bones throughout the body. These cases are relatively uncommon, and such lesions rarely cause difficulty or discomfort. In the absence of other TSC symptoms, bone lesions may be mistaken for a sign of some other disorder. However, they are considered a minor feature in the diagnostic criteria of TSC.

Gastrointestinal System
Benign tumors of the stomach, intestine, and/or colon are common among people with TSC. However, these tumors are generally small and rarely cause significant symptoms. TSC-related rectal polyps are considered a minor feature in the diagnostic criteria for the disorder.

Gums and Teeth
People with TSC typically experience dental problems. Approximately 70 percent of adults with TSC develop uneven, or nodular, growths on their gums. These tumors, called gingival fibromas, may cause irritation and may affect tooth alignment. It is also nearly certain that people with TSC will develop pits in the dental enamel of their permanent teeth. Studies have shown the prevalence of these pits to be nearly 100 percent among adults with TSC. As a result, specialists stress the importance of good oral hygiene for people with TSC. Dentists also recommend coating the teeth to fill dental pits and protect against tooth decay. Diagnostically, specialists consider the presence of both gingival fibromas and multiple dental pits to be a valuable indicator of TSC. Both are considered minor features in the diagnostic criteria of the disorder.

Liver
Angiomyolipomas (AMLs) are benign tumors that most often affect the kidneys of people with TSC. However, AMLs and cysts can also arise in the liver, and are seen in approximately 25 percent of people with TSC. Their prevalence is much higher among women than men. These lesions are generally nonprogressive and asymptomatic, although in rare cases it may be necessary to remove them surgically.

Pancreas
Benign pancreatic tumors are thought to be uncommon in people with TSC. However, their prevalence is not known given that the pancreas is not often part of regular TSC examinations. When pancreatic tumors do exist, they are generally asymptomatic, but may cause abdominal pain, behavioral changes, or hypoglycemia.

Spleen
In general, TSC leaves the spleen unaffected. In very rare cases, however, people with TSC have developed large, progressive lesions called hemangiomatous malformations that required removal of the spleen.

Next Steps

It is important to remember:

• The most serious TSC complications are likely to affect the brain, heart, skin, kidney, lung, and eye
• TSC-related tumors, cysts, and other abnormalities may also arise in the liver, spleen, pancreas, gastrointestinal system, gums, teeth, and bones
• These manifestations are generally rare and asymptomatic. However, they may have serious effects on organ function and, once identified, should be periodically monitored by a specialist in the same way that other manifestations are monitored
• Physicians should be aware that TSC can affect all the organs in the body and be familiar with both common and uncommon manifestations of the disorder
• Dentists should be informed about a TSC diagnosis and be familiar with dental manifestations of the disorder and appropriate treatments
• Good dental hygiene and regular dental examinations are important to counteract the risk of damage from dental pits