Tuberous Sclerosis Complex (TSC)
Description
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that can affect various organs, including the brain, heart, kidneys, skin, and lungs. This comprehensive guide provides insights into the signs and symptoms, causes, diagnosis, management, and strategies for individuals with TSC to thrive. Discover the role of genetic mutations, inheritance patterns, and the importance of early intervention.
Genes Involved
TSC is caused by mutations in either the TSC1 or TSC2 gene. These genes play a crucial role in regulating cell growth and development. Mutations in these genes can lead to uncontrolled cell growth and the formation of tumors or hamartomas (abnormal growths) in various organs.
Recognizing the Signs and Symptoms
TSC‘s symptoms can vary widely depending on the affected organs and the severity of the condition. Common signs include:
- Skin Lesions: Ash-leaf spots (pale, irregular patches), angiofibromas (small, raised bumps), and shagreen patches (rough, leathery areas).
- Brain Abnormalities: Seizures, developmental delays, autism spectrum disorder, behavioral issues, and cognitive impairments.
- Kidney Problems: Angiomyolipomas (benign tumors) in the kidneys, leading to potential complications.
- Heart Issues: Rhabdomyomas (benign tumors) in the heart, which can cause heart rhythm problems.
- Lung Abnormalities: Lymphangioleiomyomatosis (LAM), a rare lung disease affecting women.
- Other: Dental enamel pits, eye abnormalities, and tumors in other organs.
Causes
TSC is primarily caused by mutations in the TSC1 or TSC2 genes. These mutations can be inherited from a parent with TSC, or they can occur spontaneously during the formation of a sperm or egg cell. Approximately 2/3 of cases are inherited, while the remaining 1/3 are due to new mutations.
Inheritance/recurrence risk
TSC follows an autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder. If one parent has TSC, there is a 50% chance that their child will inherit the condition. In cases of spontaneous mutations, the risk of recurrence in subsequent pregnancies is low.
