Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results in the growth of noncancerous tumors in various parts of the body, such as the brain, heart, eyes, lungs, and kidneys. While a cure for TSC remains elusive, there are treatments available to help manage its symptoms.

Causes

Tuberous Sclerosis Complex (TSC) originates from mutations in the TSC1 or TSC2 genes. These genes are instrumental in producing proteins that regulate cell growth and division. When mutations occur, this control is lost, allowing benign tumors to develop throughout the body. In most cases, TSC arises from spontaneous genetic mutations with no prior family history, known as sporadic cases. About one-third of cases are inherited due to a single mutated gene from one parent, following an autosomal dominant pattern. The severity and manifestation of TSC can vary greatly, even among family members sharing the same mutation.

Symptoms

Tuberous Sclerosis Complex (TSC) is marked by noncancerous tumors in different body regions. Common symptoms include:

• Skin Changes: Lighter skin patches or small bumps, often on the face or under the nails.

• Seizures: Frequent and typically starting in infancy due to brain tumors.

• Cognitive and Developmental Impact: Developmental delays, cognitive dysfunction, and mental health issues such as autism and ADHD.

• Kidney and Heart Tumors: Commonly present, with cardiac tumors often detected at birth.

• Respiratory Problems: Tumors in the lungs can lead to breathing difficulties, especially in women.

Early detection and management of these symptoms are crucial for effective treatment and care.

Diagnosis

The diagnosis of Tuberous Sclerosis Complex involves evaluating symptoms, family history, and specific diagnostic testing. Healthcare professionals initially examine clinical signs like skin changes, seizure activity, and developmental delays. Imaging tests such as CT or MRI scans help identify brain and organ tumors. A thorough physical examination reveals features associated with the disorder. Genetic testing stands as a vital tool, confirming mutations in the TSC1 or TSC2 genes. Diagnosis requires evidence of two or more major features or a combination of major and minor features. Early recognition is vital for managing symptoms and preventing complications.

Treatments

While Tuberous Sclerosis Complex cannot be cured, it can be managed through medications, surgery, and tailored therapies based on specific symptoms. Medications, such as Everolimus, are key in preventing seizures and controlling tumor growth. Surgery might be necessary to remove tumors impacting organ function. Dermatological treatments address visible skin changes. Additionally, ongoing monitoring and therapies like occupational and speech therapy are essential to help individuals manage daily activities and cognitive or behavioral issues.

Medications

Several medications play a role in treating Tuberous Sclerosis Complex, characterized by noncancerous tumor growth:

• Everolimus: An mTOR inhibitor used for kidney tumors and specific brain tumors, also aids in managing certain seizures.

• Sirolimus: Targets facial angiofibromas and is beneficial for lung-related issues in TSC.

• Cannabidiol: Approved for seizure management from one year of age, improving quality of life.

These medications significantly alleviate symptoms and enhance the well-being of those with TSC.

Prevention

Tuberous Sclerosis Complex stems from genetic mutations in the TSC1 or TSC2 genes, and currently, there are no means to prevent the condition. The primary risk factor is a genetic predisposition due to these mutations. Families can still manage the condition's impact through genetic counseling, which is crucial for those with a family history of TSC. This counseling helps assess the risk of passing the condition to offspring and offers family planning guidance. Though ongoing research explores potential genetic therapies, prevention at a genetic level remains unattainable. However, early diagnosis and intervention are crucial for improving the quality of life in affected individuals.