Conditions – Tuberous Sclerosis Complex

Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a genetic condition that affects 1/14,500-27,000 people in the world. Some cases can be inherited from a parent and others occur because of random genetic changes.

People with TSC develop multiple tumours throughout the body which are usually benign but can have the potential to become malignant. It is because of these tumours that the features of TSC arise. The signs of TSC can be apparent from birth to adulthood, but most cases will be diagnosed between 2-6 years of age.

The clinical features vary widely and a diagnosis is made when there is the presence of multiple features. Although it is a genetic condition due to mutations in the genes TSC 1 or TSC 2, genetic testing is not required to make a diagnosis unless it cannot be made on clinical features alone.

 

Some examples of the features of Tuberous Sclerosis Complex include:

People with TSC will often have multiple providers that all play an important role in their care including doctors, support workers and allied health professionals.

Our doctors at Adelaide Disability Medical Services will coordinate the monitoring that is required for people with TSC including the following:

  • MRI brain and abdomen where needed which may require specialist input
  • Dental reviews
  • Eye checks
  • Skin checks
  • Heart check with an ECG every few years and an echocardiogram where needed
  • Screening for TSC-Associated-Neuropsychiatric-Disorders (TAND)
  • Kidney health check with blood pressure and renal function monitoring
  • Monitoring of lungs with CT scans where needed in some individuals

 

For more information, please visit:

https://tsa.org.au

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