Primary care management of tuberous sclerosis complex in children.

PURPOSE: To provide primary care providers with a general overview of the genetic disorder tuberous sclerosis complex (TSC). By understanding the disease mechanism for this genetic condition, providers can effectively care for TSC patients and properly educate families who are affected by TSC. The article also describes the multi-system clinical presentation of the disease to assist primary care providers with an early diagnosis.

DATA RESOURCES: Research articles and evidence-based guidelines found through MEDLINE and the World Wide Web.

CONCLUSIONS

Using various diagnostic tools and treatment options, providers can offer the multidisciplinary approach needed to manage this disease appropriately. New treatment options, such as rapamycin, may be the future drug of choice in treating TSC.

IMPLICATIONS FOR PRACTICE: By following evidence-based clinical practice guidelines, providers can hope to reduce TSC-related morbidity and mortality.