Tuberous Sclerosis Complex (TSC)

Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects multiple organ systems and can cause a range of symptoms, from mild to severe.

Causes and Genetics

TSC is caused by mutations in either the TSC1 or TSC2 gene. These genes provide instructions for making proteins called hamartin and tuberin, which help regulate cell growth and division. Mutations in these genes can lead to uncontrolled cell growth and tumor formation.

Inheritance Pattern

TSC is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. This means that if one parent has TSC, each child has a 50% chance of inheriting the mutated gene and developing the condition.

Symptoms

The symptoms of TSC can vary widely from person to person, but may include:

• Benign tumors (such as angiomyolipomas) in organs like the kidneys, brain, and heart
• Seizures and other neurological problems
• Developmental delays and intellectual disability
• Skin lesions (such as angiofibromas and shagreen patches)
• Lung disease (such as lymphangioleiomyomatosis)
• Dental problems (such as pits in the teeth)
• Cardiac problems (such as rhabdomyomas)

Diagnosis

TSC is typically diagnosed through a combination of:

• Genetic testing to identify mutations in the TSC1 or TSC2 gene
• Imaging studies (such as MRI and CT scans) to detect tumors and other abnormalities
• Clinical evaluation to assess symptoms and physical characteristics

Treatment and Management

There is no cure for TSC, but a range of treatments can help manage the condition and its symptoms. These may include:

• Surgery to remove tumors or repair damaged organs
• Medications to control seizures, blood pressure, and other symptoms
• Physical therapy and occupational therapy to support development and daily functioning
• Monitoring for potential complications (such as kidney disease and lung disease)

Prognosis

The prognosis for individuals with TSC varies widely depending on the severity of symptoms and the effectiveness of treatment. With proper management, many people with TSC can lead active and fulfilling lives.